chr17:41196312:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr17:41,196,312-41,322,262
hg38 chr17:43,044,295-43,170,245 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 squamous cell carcinoma NA BeFree,LHGDN Detail
<0.001 Carcinoma, Transitional Cell NA BeFree Detail
<0.001 Cardiomyopathy, Dilated NA BeFree Detail
<0.001 Cardiovascular Diseases NA BeFree Detail
0.122 Neoplastic Cell Transformation NA CTD_human,GAD Detail
<0.001 Malignant tumor of cervix NA BeFree Detail
<0.001 Primary biliary cirrhosis NA BeFree Detail
0.002 Chromosome Aberrations NA GAD Detail
0.004 Congenital chromosomal disease Furthermore, deletion of miR-1255b, miR-148b*, and miR-193b* in independent coho... BeFree 24843000 Detail
<0.001 colitis NA BeFree Detail
0.005 Colonic Neoplasms NA BeFree,GAD Detail
0.007 colorectal carcinoma BRCA1 and BRCA2 mutations and the risk for colorectal cancer. BeFree 25195694 Detail
0.010 Colorectal Neoplasms NA GAD,LHGDN Detail
0.120 adenoid cystic carcinoma NA CTD_human Detail
<0.001 cystadenoma NA BeFree Detail
<0.001 cystic fibrosis NA BeFree Detail
<0.001 Cyst NA BeFree Detail
<0.001 Mental Depression NA BeFree Detail
<0.001 depressive disorder NA BeFree Detail
<0.001 Diabetes NA BeFree Detail
<0.001 diabetes mellitus NA BeFree Detail
0.009 DNA Damage NA GAD Detail
0.005 Endometrial Neoplasms NA GAD,LHGDN Detail
0.003 endometriosis NA BeFree,LHGDN Detail
<0.001 Esophageal Neoplasms NA BeFree Detail
0.022 Fallopian Tube Neoplasms NA GAD,LHGDN Detail
0.010 Fanconi anemia Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. BeFree 25472942 Detail
0.010 Fanconi anemia Since the Fanconi anemia (FA) pathway coordinates several DNA repair pathways, i... BeFree 25583207 Detail
0.010 Fanconi anemia Forty-two deleterious germline mutations were identified in 21 genes of 34 patie... BeFree 25927356 Detail
<0.001 Nonproliferative fibrocystic disease NA BeFree Detail
<0.001 breast fibrocystic disease For detection of BRCA1 mutations, we used a polymerase chain reaction single-str... BeFree 24969878 Detail
<0.001 Folic Acid Deficiency NA BeFree Detail
<0.001 Genital Neoplasms, Female NA BeFree Detail
0.003 glioblastoma We have clarified the signaling and metabolic pathways (i.e. role of BRCA1 in DN... BeFree,GAD 25481245 Detail
0.003 glioblastoma BRCA1 germline mutation and glioblastoma development: report of cases. BeFree,GAD 25880076 Detail
0.003 Glioma NA BeFree,GAD Detail
<0.001 granulosa cell tumor NA BeFree Detail
<0.001 gynecomastia NA BeFree Detail
0.001 Hamartoma Syndrome, Multiple NA BeFree Detail
0.003 Head and Neck Neoplasms NA LHGDN Detail
<0.001 Heart failure NA BeFree Detail
<0.001 congestive heart failure NA BeFree Detail
<0.001 Hemangiosarcoma NA BeFree Detail
<0.001 Hemophilia A NA BeFree Detail
<0.001 hepatitis NA BeFree Detail
<0.001 hepatitis A NA BeFree Detail
<0.001 hepatitis B NA BeFree Detail
<0.001 HIV Infections BRCA1 functions as a novel transcriptional cofactor in HIV-1 infection. BeFree 25879655 Detail
0.002 Hodgkin Disease NA GAD Detail
0.080 Hypertensive disease NA RGD Detail
<0.001 hyperthyroidism NA BeFree Detail
<0.001 Immunologic Deficiency Syndromes NA BeFree Detail
<0.001 insulinoma NA BeFree Detail
<0.001 Krukenberg Tumor NA BeFree Detail
<0.001 Laryngeal neoplasm NA BeFree Detail
<0.001 leiomyosarcoma NA BeFree Detail
0.001 leukemia NA BeFree Detail
<0.001 chronic lymphocytic leukemia NA BeFree Detail
0.006 Leukemia, Myelocytic, Acute BRCA1, PARP1 and γH2AX in acute myeloid leukemia: Role as biomarkers of response... BeFree,GAD,LHGDN 25483710 Detail
0.004 Myeloid Leukemia, Chronic The downregulation of BAP1 expression by BCR-ABL reduces the stability of BRCA1 ... BeFree,LHGDN 26118501 Detail
<0.001 Leukemia, Myeloid, Chronic-Phase NA BeFree Detail
<0.001 leukopenia NA BeFree Detail
<0.001 Leukoplakia NA BeFree Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
0.002 Lymphatic Metastasis NA GAD Detail
0.006 lymphoma NA BeFree,GAD Detail
0.003 Lymphoma, Follicular NA BeFree,GAD Detail
0.005 Lymphoma, Non-Hodgkin NA BeFree,GAD Detail
<0.001 Waldenstrom Macroglobulinemia DH BC patients were on average not younger than single mutation carriers and did... BeFree 24800916 Detail
0.200 Animal Mammary Neoplasms NA CTD_human,GAD Detail
0.200 Mammary Neoplasms, Experimental NA CTD_human,RGD Detail
0.015 melanoma Individuals with a BRCA1 mutation did not have a significant increase in cancers... BeFree,GAD,LHGDN 25224030 Detail
<0.001 meningioma NA BeFree Detail
0.003 Meningomyelocele NA BeFree,GAD Detail
0.003 premature menopause NA BeFree,GAD Detail
<0.001 Mesothelioma NA BeFree Detail
0.003 microcephaly NA BeFree,LHGDN Detail
0.003 Mixed Salivary Gland Tumor NA BeFree,GAD Detail
0.120 Mouth Diseases NA CTD_human Detail
<0.001 Moyamoya disease NA BeFree Detail
<0.001 multiple myeloma NA BeFree Detail
0.003 multiple sclerosis NA BeFree,GAD Detail
<0.001 myocardial infarction NA BeFree Detail
0.002 narcolepsy NA GAD Detail
0.009 Neoplasm Invasiveness NA GAD Detail
0.010 Neoplasm Metastasis In contrast, all cases lacking BRCA1 or 2 abnormalities showed infiltrative meta... BeFree 24577588 Detail
0.010 Neoplasm Metastasis Normal ovarian epithelial cells overexpressing BRCA1-IRIS formed metastasis in m... BeFree 25132263 Detail
0.010 Neoplasm Metastasis Wild-type genotypes of BRCA1 gene SNPs combined with micro-RNA over-expression i... BeFree 25273865 Detail
0.010 Neoplasm Metastasis Annual screening with MRI and mammography improves metastasis free survival in w... BeFree 25820931 Detail
0.005 Neoplasm Recurrence, Local NA GAD Detail
0.005 Neoplasms, Multiple Primary NA GAD Detail
0.001 nephroblastoma Loss of BRCA1 expression and Wilms tumor 1 (WT-1) overexpression were detected b... BeFree 24681740 Detail
0.001 nephroblastoma This review highlights selected examples of a series of tumor suppressors, inclu... BeFree 24863809 Detail
<0.001 neuroblastoma NA BeFree Detail
<0.001 neurofibromatosis 1 NA BeFree Detail
<0.001 Neurofibromatosis 2 NA BeFree Detail
<0.001 neutropenia NA BeFree Detail
<0.001 obesity NA BeFree Detail
<0.001 osteosarcoma NA BeFree Detail
0.082 ovarian carcinoma Genetic testing for BRCA1 and BRCA2 gene mutations, in conjunction with preventi... BeFree,GAD 24199689 Detail
0.082 ovarian carcinoma Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with famil... BeFree,GAD 24372583 Detail
0.082 ovarian carcinoma In this study, the nuclear expression levels of γ-H2AX and p53 using immunohisto... BeFree,GAD 24681744 Detail
0.082 ovarian carcinoma The contribution of deleterious germline mutations in BRCA1, BRCA2 and the misma... BeFree,GAD 24728189 Detail
0.082 ovarian carcinoma BRCA1 founder mutations compared to ovarian cancer in Belarus. BeFree,GAD 24770866 Detail
0.082 ovarian carcinoma A MDP model for breast and ovarian cancer intervention strategies for BRCA1/2 mu... BeFree,GAD 24771600 Detail
0.082 ovarian carcinoma BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Lat... BeFree,GAD 24797986 Detail
0.082 ovarian carcinoma Predictors of RRO intentions were perceived risk for ovarian cancer (OR = 1.25, ... BeFree,GAD 24839250 Detail
0.082 ovarian carcinoma With the exception of the role of germ-line and possibly somatic BRCA1 and BRCA2... BeFree,GAD 24857070 Detail
0.082 ovarian carcinoma Our results could provide improvement in prediction and clinical management of H... BeFree,GAD 24879340 Detail
0.082 ovarian carcinoma DNA-testing for BRCA1 and BRCA2 has become incorporated in the diagnostic proced... BeFree,GAD 24894332 Detail
0.082 ovarian carcinoma Our multinomial logistic regression model demonstrated that no single factor was... BeFree,GAD 24894343 Detail
0.082 ovarian carcinoma Ovarian cancer is a major cause of cancer deaths, yet there have been few known ... BeFree,GAD 24909162 Detail
0.082 ovarian carcinoma In our previous study we described three LGRs in BRCA1 (exons 13-19, exon 17 and... BeFree,GAD 24947589 Detail
0.082 ovarian carcinoma With the discovery of BRCA1 and BRCA2 gene mutations, and a more comprehensive a... BeFree,GAD 24984781 Detail
0.082 ovarian carcinoma Such a dependency would also offer an explanation for the so-called BRCA-paradox... BeFree,GAD 25036526 Detail
0.082 ovarian carcinoma Germline mutations of BRCA1 confer hereditary susceptibility to breast and ovari... BeFree,GAD 25066119 Detail
0.082 ovarian carcinoma Germline deleterious mutations in the BRCA1/BRCA2 genes are associated with an i... BeFree,GAD 25069718 Detail
0.082 ovarian carcinoma BRCA1 and BRCA2 are the most well-known breast and ovarian cancer susceptibility... BeFree,GAD 25086635 Detail
0.082 ovarian carcinoma Taken together, these data strongly suggest that BRCA1-IRIS and/or BDNF/TrkB and... BeFree,GAD 25132263 Detail
0.082 ovarian carcinoma Ovarian cancer (OC) mostly arises sporadically, but a fraction of cases are asso... BeFree,GAD 25136623 Detail
0.082 ovarian carcinoma Ovarian carcinomas (OC) arising in BRCA1 and BRCA2 mutation carriers demonstrate... BeFree,GAD 25186150 Detail
0.082 ovarian carcinoma Population-based screening for breast and ovarian cancer risk due to BRCA1 and B... BeFree,GAD 25192939 Detail
0.082 ovarian carcinoma Women who carry a BRCA1 or BRCA2 mutation are at high risk of breast and ovarian... BeFree,GAD 25195694 Detail
0.082 ovarian carcinoma Individuals with a BRCA1 mutation did not have a significant increase in cancers... BeFree,GAD 25224030 Detail
0.082 ovarian carcinoma BRCA1-carriers had a higher likelihood of a positive family history (FH) of brea... BeFree,GAD 25231195 Detail
0.082 ovarian carcinoma The Mexican founder mutation (BRCA1 ex9-12del) accounted for 35% of BRCA-associa... BeFree,GAD 25236687 Detail
0.082 ovarian carcinoma Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2... BeFree,GAD 25238946 Detail
0.082 ovarian carcinoma The purpose of this study was to examine: (a) the effect of false-positive breas... BeFree,GAD 25243716 Detail
0.082 ovarian carcinoma Impact of a paternal origin of germline BRCA1/2 mutations on the age at breast a... BeFree,GAD 25251729 Detail
0.082 ovarian carcinoma The performance of BRCA1 immunohistochemistry for detecting germline, somatic, a... BeFree,GAD 25281711 Detail
0.082 ovarian carcinoma Poly (ADP-ribose) polymerase 1 (PARP1) inhibitors are actively under clinical tr... BeFree,GAD 25292178 Detail
0.082 ovarian carcinoma More than half of the women (54%) were aware that genetic tests to determine ris... BeFree,GAD 25301325 Detail
0.082 ovarian carcinoma Inherited mutations in BRCA1 or BRCA2 (BRCA1/2) confer very high risk of breast ... BeFree,GAD 25311111 Detail
0.082 ovarian carcinoma Women at high risk for ovarian cancer due to BRCA1 or BRCA2 mutation or family h... BeFree,GAD 25311333 Detail
0.082 ovarian carcinoma A novel crosstalk between BRCA1 and sirtuin 1 in ovarian cancer. BeFree,GAD 25323003 Detail
0.082 ovarian carcinoma Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA... BeFree,GAD 25336561 Detail
0.082 ovarian carcinoma For ovarian cancer, meta-analysis demonstrated that both BRCA1 and BRCA2 mutatio... BeFree,GAD 25348513 Detail
0.082 ovarian carcinoma Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer pati... BeFree,GAD 25366421 Detail
0.082 ovarian carcinoma Olaparib is an oral poly (ADP-ribose) polymerase inhibitor with activity in germ... BeFree,GAD 25366685 Detail
0.082 ovarian carcinoma We tested the COS performance in 436 Italian breast/ovarian cancer families incl... BeFree,GAD 25373702 Detail
0.082 ovarian carcinoma To analyze the effect of germline mutations in BRCA1 and BRCA2 on mortality in p... BeFree,GAD 25398451 Detail
0.082 ovarian carcinoma BRCA1 is a major breast and ovarian cancer susceptibility gene, with mutations i... BeFree,GAD 25400280 Detail
0.082 ovarian carcinoma Screening for common mutations in BRCA1 and BRCA2 genes: interest in genetic tes... BeFree,GAD 25418591 Detail
0.082 ovarian carcinoma A genomic instability score in discriminating nonequivalent outcomes of BRCA1/2 ... BeFree,GAD 25437005 Detail
0.082 ovarian carcinoma We assessed the frequency of mutations in 17 predisposition genes, including BRC... BeFree,GAD 25452441 Detail
0.082 ovarian carcinoma Three DNA-based homologous recombination deficiency (HRD) scores (HRD-loss of he... BeFree,GAD 25475740 Detail
0.082 ovarian carcinoma The poly(ADP-ribose) polymerase inhibitor olaparib has shown antitumour activity... BeFree,GAD 25481791 Detail
0.082 ovarian carcinoma BRCA1 as a nicotinamide adenine dinucleotide (NAD)-dependent metabolic switch in... BeFree,GAD 25486197 Detail
0.082 ovarian carcinoma Recent studies support the following conclusions: first, oral contraceptive use ... BeFree,GAD 25490378 Detail
0.082 ovarian carcinoma These studies have prompted the use of PARP inhibitors to treat BRCA1 and BRCA2-... BeFree,GAD 25490527 Detail
0.082 ovarian carcinoma Risk-reducing salpingo-oophorectomy: a meta-analysis on impact on ovarian cancer... BeFree,GAD 25494812 Detail
0.082 ovarian carcinoma Carboplatin and taxol resistance develops more rapidly in functional BRCA1 compa... BeFree,GAD 25499884 Detail
0.082 ovarian carcinoma Among women with both breast and ovarian cancer, 22.4% (2,237/9,982) had a BRCA1... BeFree,GAD 25503195 Detail
0.082 ovarian carcinoma BRCA1 is a multifunctional protein best known for its role in DNA repair and ass... BeFree,GAD 25522274 Detail
0.082 ovarian carcinoma BRCA1 and BRCA2 genes are critical in homologous recombination DNA repair and ha... BeFree,GAD 25526776 Detail
0.082 ovarian carcinoma After imputation to 1000 Genomes Project data, we assessed associations of 11 mi... BeFree,GAD 25581431 Detail
0.082 ovarian carcinoma Therefore, we sought to investigate the contribution of 19 genes identified in t... BeFree,GAD 25622547 Detail
0.082 ovarian carcinoma Inactivating germline mutations in the tumour suppressor gene BRCA1 are associat... BeFree,GAD 25643705 Detail
0.082 ovarian carcinoma Characterization of three alternative transcripts of the BRCA1 gene in patients ... BeFree,GAD 25683334 Detail
0.082 ovarian carcinoma Mutations in the BRCA1 and BRCA2 genes confer an increased lifetime risk for bre... BeFree,GAD 25706666 Detail
0.082 ovarian carcinoma Pathogenic germline mutations in the BRCA1 gene predispose carriers to early ons... BeFree,GAD 25724305 Detail
0.082 ovarian carcinoma Two decades beyond BRCA1/2: Homologous recombination, hereditary cancer risk and... BeFree,GAD 25725131 Detail
0.082 ovarian carcinoma We investigated the clinical implications of the loss of XCI in ovarian cancer a... BeFree,GAD 25742136 Detail
0.082 ovarian carcinoma Mutations in breast cancer susceptibility gene BRCA1 (breast cancer early-onset ... BeFree,GAD 25748678 Detail
0.082 ovarian carcinoma Most sporadic breast and ovarian cancers express low levels of the breast cancer... BeFree,GAD 25762631 Detail
0.082 ovarian carcinoma For the last 20 years, genetic tests have allowed unaffected women to determine ... BeFree,GAD 25813728 Detail
0.082 ovarian carcinoma The tumor suppressors BRCA1 and BRCA2, key players at different stages of HR, ar... BeFree,GAD 25833843 Detail
0.082 ovarian carcinoma BRCA1 and BRCA2 mutation carriers are predisposed to develop breast and ovarian ... BeFree,GAD 25836596 Detail
0.082 ovarian carcinoma Association of type and location of BRCA1 and BRCA2 mutations with risk of breas... BeFree,GAD 25849179 Detail
0.082 ovarian carcinoma Germline mutations in breast cancer susceptibility gene 1 (BRCA1) increase the r... BeFree,GAD 25880076 Detail
0.082 ovarian carcinoma Pathogenic mutations in BRCA1/2 tumor suppressor genes increase the lifetime ris... BeFree,GAD 25893891 Detail
0.082 ovarian carcinoma Although targeted screening for specific BRCA1 mutations can be offered to all P... BeFree,GAD 25948282 Detail
0.082 ovarian carcinoma In the present study, breast tumor samples from Canadian and Saudi Arabian patie... BeFree,GAD 25964535 Detail
0.082 ovarian carcinoma Further work to clarify the precise relationship between BRCA1/2 mutation genoty... BeFree,GAD 25993149 Detail
0.082 ovarian carcinoma Here we present a complete screening of consecutive series of breast and ovarian... BeFree,GAD 26193202 Detail
0.082 ovarian carcinoma Familial predisposition for ovarian cancer was defined as having a higher than 1... BeFree,GAD 26248245 Detail
0.082 ovarian carcinoma These results confirm that RAD51C and RAD51D are moderate ovarian cancer suscept... BeFree,GAD 26261251 Detail
0.082 ovarian carcinoma Inhibition of PARPs is a promising strategy for targeting cancers with defective... BeFree,GAD 26268938 Detail
0.082 ovarian carcinoma Approximately 12.9% of all ovarian cancers in Ontario occur in the 0.7% of women... BeFree,GAD 26341709 Detail
0.002 Ovarian Diseases NA GAD Detail
0.142 Pancreatic Neoplasm NA CTD_human,GAD,LHGDN Detail
0.120 Peripheral neuropathy NA CTD_human Detail
0.010 Peritoneal Neoplasms NA BeFree,GAD Detail
<0.001 peritonitis NA BeFree Detail
<0.001 Peutz-Jeghers syndrome NA BeFree Detail
<0.001 pneumonia NA BeFree Detail
0.002 Adenomatous Polyposis Coli NA BeFree Detail
0.006 Precancerous Conditions NA BeFree,GAD Detail
0.145 Prostatic Neoplasms NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 retinoblastoma NA BeFree Detail
0.002 Salivary Gland Neoplasms NA GAD Detail
<0.001 Septicemia NA BeFree Detail
0.005 Skin Neoplasms NA GAD Detail
<0.001 Sleep disturbances NA BeFree Detail
0.005 Stomach Neoplasms NA GAD,LHGDN Detail
<0.001 post-traumatic stress disorder NA BeFree Detail
<0.001 Thrombasthenia NA BeFree Detail
0.002 Tobacco use disorder NA GAD Detail
<0.001 Tongue Neoplasms NA BeFree Detail
0.002 trigeminal neuralgia NA BeFree Detail
<0.001 tuberculosis NA BeFree Detail
<0.001 tuberous sclerosis NA BeFree Detail
<0.001 Turner syndrome NA BeFree Detail
0.002 Uveal Neoplasms NA GAD Detail
<0.001 Vascular Diseases NA BeFree Detail
<0.001 Werner syndrome NA BeFree Detail
<0.001 Ichthyosis, X-Linked We analysed BRCA1 single-nucleotide polymorphisms (SNPs) in tumour specimens fro... BeFree 25602962 Detail
0.003 diffuse large B-cell lymphoma NA BeFree,GAD Detail
<0.001 Lymphoma, Large-Cell, Follicular NA BeFree Detail
0.005 spina bifida NA BeFree,GAD,LHGDN Detail
<0.001 severe combined immunodeficiency NA BeFree Detail
0.005 Neoplasms, Second Primary NA BeFree,GAD,LHGDN Detail
<0.001 Ovarian Failure, Premature NA BeFree Detail
0.002 Li-Fraumeni syndrome NA BeFree Detail
<0.001 Adenosis of Breast NA BeFree Detail
<0.001 Depressive Symptoms NA BeFree Detail
<0.001 benign neoplasm NA BeFree Detail
<0.001 Rous Sarcoma NA BeFree Detail
<0.001 Adnexal mass NA BeFree Detail
<0.001 Cutaneous Melanoma NA BeFree Detail
<0.001 Adenocarcinoma of lung (disorder) NA BeFree Detail
<0.001 esophageal carcinoma NA BeFree Detail
<0.001 Malignant neoplasm of tongue NA BeFree Detail
0.004 Malignant tumor of peritoneum Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2... BeFree 25238946 Detail
0.004 Malignant tumor of peritoneum Recent studies support the following conclusions: first, oral contraceptive use ... BeFree 25490378 Detail
0.004 Malignant tumor of peritoneum Our Hereditary Cancer Registry was searched for gynecologic and peritoneal cance... BeFree 25756400 Detail
<0.001 uterine cancer NA BeFree Detail
0.004 Malignant neoplasm of fallopian tube Patients with fallopian tube cancer had a significantly higher rate of breast ca... BeFree 25514761 Detail
0.004 Malignant neoplasm of fallopian tube At data cutoff, 21 patients were included; 10 with breast, 9 with ovarian and 2 ... BeFree 26180927 Detail
<0.001 Malignant neoplasm of abdomen NA BeFree Detail
<0.001 Secondary malignant neoplasm of lung NA BeFree Detail
0.001 Stage 0 Breast Carcinoma NA BeFree Detail
<0.001 Aortic Aneurysm, Thoracic NA BeFree Detail
<0.001 Agenesis of corpus callosum NA BeFree Detail
0.007 Tumor Progression NA BeFree,GAD Detail
<0.001 Microinvasive tumor NA BeFree Detail
<0.001 Undifferentiated carcinoma NA BeFree Detail
<0.001 Familial Atypical Multiple Mole-Melanoma NA BeFree Detail
<0.001 Amyloid Neuropathies NA BeFree Detail
<0.001 Mixed Tumor, Mullerian NA BeFree Detail
<0.001 sebaceous adenocarcinoma NA BeFree Detail
<0.001 acinar cell carcinoma NA BeFree Detail
0.003 Carcinoma, Lobular NA BeFree,GAD Detail
<0.001 Medullary carcinoma NA BeFree Detail
0.006 Cystadenocarcinoma, Serous Immunohistochemical loss of BRCA1 protein in uterine serous carcinoma. BeFree,GAD 24681740 Detail
<0.001 Carcinoma, Large Cell NA BeFree Detail
<0.001 uveal melanoma NA BeFree Detail
<0.001 Comedone NA BeFree Detail
<0.001 Premature aging syndrome NA BeFree Detail
<0.001 Difficulty sleeping NA BeFree Detail
0.004 Malignant neoplasm of female breast The four most frequent BRCA1 mutation (2798 T > C, 3971 G > A, 3971 G > A and 62... BeFree 25337278 Detail
0.008 pancreatic carcinoma The SIR for all BRCA1/2 mutation carriers compared with the rates in the general... BeFree 25788227 Detail
0.008 pancreatic carcinoma BRCA1 and BRCA2 mutations sensitize to chemotherapy in patient-derived pancreati... BeFree 26180923 Detail
0.012 Carcinoma of male breast Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutati... BeFree,GAD 25320599 Detail
0.012 Carcinoma of male breast Using a TruSeq amplicon cancer panel, this study evaluated 48 familial MBCs (3 B... BeFree,GAD 25490678 Detail
0.006 fallopian tube carcinoma Patients with fallopian tube cancer had a significantly higher rate of breast ca... BeFree 25514761 Detail
0.006 fallopian tube carcinoma At data cutoff, 21 patients were included; 10 with breast, 9 with ovarian and 2 ... BeFree 26180927 Detail
<0.001 Papillary thyroid carcinoma NA BeFree Detail
0.009 Malignant neoplasm of lung NA BeFree,GAD Detail
<0.001 Neoplasm, Residual NA BeFree Detail
0.011 Malignant neoplasm of male breast Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutati... BeFree 25320599 Detail
0.011 Malignant neoplasm of male breast Using a TruSeq amplicon cancer panel, this study evaluated 48 familial MBCs (3 B... BeFree 25490678 Detail
0.018 Breast Neoplasms, Male NA BeFree,GAD,LHGDN Detail
<0.001 Sepsis NA BeFree Detail
<0.001 Multiple tumors We found that 78% and 69% of BRCA1 and BRCA2 mutation carriers identified met th... BeFree 25138101 Detail
<0.001 Xeroderma pigmentosum, group G NA BeFree Detail
<0.001 Spastic syndrome The analysis of the homopolymers stretches of 6 bp or longer using the BRCA HP k... BeFree 25136594 Detail
0.003 Behavioral tic NA LHGDN Detail
<0.001 Carcinoma breast stage I NA BeFree Detail
<0.001 Breast cancer stage II NA BeFree Detail
0.280 Malignant neoplasm of ovary Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations shou... BeFree 16261409 Detail
0.082 ovarian carcinoma Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations shou... BeFree 16261409 Detail
0.005 Unilateral Breast Carcinoma Three pathogenic BRCA1 mutations (Cys61Gly, 3814del5, 5382insC) were identified ... BeFree 11556836 Detail
0.360 Malignant neoplasm of breast Polish women with breast cancer diagnosed at age of 50 or below should be screen... BeFree 24528374 Detail
0.080 breast carcinoma The missense BRCA1 mutation C61G was associated with a higher odds ratio for bre... BeFree 15980987 Detail
0.360 Malignant neoplasm of breast The missense BRCA1 mutation C61G was associated with a higher odds ratio for bre... BeFree 15980987 Detail
0.080 breast carcinoma Polish women with breast cancer diagnosed at age of 50 or below should be screen... BeFree 24528374 Detail
0.002 Carcinoma breast stage IV NA BeFree Detail
<0.001 Non-small cell lung cancer stage I NA BeFree Detail
<0.001 Ovarian epithelial cancer recurrent NA BeFree Detail
<0.001 Malignant Childhood Neoplasm NA BeFree Detail
<0.001 Non-small cell lung cancer metastatic NA BeFree Detail
<0.001 Lobular carcinoma in situ of breast NA BeFree Detail
<0.001 Squamous cell carcinoma of esophagus NA BeFree Detail
<0.001 Acinar cell carcinoma of pancreas NA BeFree Detail
<0.001 Solid tumour NA BeFree Detail
<0.001 stage, ovarian epithelial cancer NA BeFree Detail
<0.001 Leiomyosarcoma of uterus NA BeFree Detail
0.005 bilateral breast cancer We studied 1,504 women with a known BRCA1 or BRCA2 mutation, 411 women with bila... BeFree 24951267 Detail
0.002 Adenocarcinoma of pancreas Patients with BRCA-1 and BRCA-2 germ line mutations are at an increased risk of ... BeFree 25304989 Detail
0.003 cervix carcinoma NA BeFree,GAD Detail
0.002 Papillary serous cystadenocarcinoma NA BeFree Detail
<0.001 Non-infiltrating lobular carcinoma NA BeFree Detail
<0.001 Malignant lymphoma - lymphoplasmacytic DH BC patients were on average not younger than single mutation carriers and did... BeFree 24800916 Detail
<0.001 Mixed anxiety and depressive disorder NA BeFree Detail
<0.001 malignant mesothelioma Interestingly, BRCA1 proteins were decreased in the MM cells with BAP1 deletion,... BeFree 26011428 Detail
0.196 Breast Cancer, Familial The contribution of BRCA1/BRCA2 mutations to hereditary breast cancer in the Tun... BeFree,CLINVAR,GAD 24372583 Detail
0.196 Breast Cancer, Familial Wild-type genotypes of BRCA1 gene SNPs combined with micro-RNA over-expression i... BeFree,CLINVAR,GAD 25273865 Detail
0.196 Breast Cancer, Familial Affymetrix GeneChip miRNA Arrays were used to perform miRNA expression analysis ... BeFree,CLINVAR,GAD 25333258 Detail
0.196 Breast Cancer, Familial Evaluation of genetic variations in miRNA-binding sites of BRCA1 and BRCA2 genes... BeFree,CLINVAR,GAD 25339023 Detail
0.196 Breast Cancer, Familial Clinicians should be aware of the wide variety of hereditary breast cancer syndr... BeFree,CLINVAR,GAD 25497410 Detail
0.196 Breast Cancer, Familial In 2013, in the UK in particular, there has been unprecedented publicity in here... BeFree,CLINVAR,GAD 25510853 Detail
0.196 Breast Cancer, Familial We compared the pathological phenotype of BRCA1/BRCA2 negative familial breast c... BeFree,CLINVAR,GAD 25736863 Detail
0.196 Breast Cancer, Familial Studies in hereditary breast cancer have shown a negative psychological impact f... BeFree,CLINVAR,GAD 25786861 Detail
0.196 Breast Cancer, Familial Epigenetic changes in BRCA1-mutated familial breast cancer. BeFree,CLINVAR,GAD 25800897 Detail
0.196 Breast Cancer, Familial Most of the previous studies of PALB2 have focused on familial breast cancer cas... BeFree,CLINVAR,GAD 25833210 Detail
0.196 Breast Cancer, Familial Although germline mutations of high-penetrance genes such as BRCA1/2 are implica... BeFree,CLINVAR,GAD 25927356 Detail
0.196 Breast Cancer, Familial We conducted a case-control study to evaluate the involvement of heterozygote an... BeFree,CLINVAR,GAD 25987085 Detail
0.196 Breast Cancer, Familial The importance of analysis of long-range rearrangement of BRCA1 and BRCA2 in gen... BeFree,CLINVAR,GAD 26271414 Detail
<0.001 Benign neoplasm of breast NA BeFree Detail
<0.001 dysgerminoma of ovary NA BeFree Detail
0.008 Malignant neoplasm of pancreas The SIR for all BRCA1/2 mutation carriers compared with the rates in the general... BeFree 25788227 Detail
0.008 Malignant neoplasm of pancreas BRCA1 and BRCA2 mutations sensitize to chemotherapy in patient-derived pancreati... BeFree 26180923 Detail
<0.001 Secondary malignant neoplasm of pancreas NA BeFree Detail
<0.001 Carcinoma in situ of fallopian tube NA BeFree Detail
<0.001 Squamous cell carcinoma of tongue NA BeFree Detail
<0.001 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site NA BeFree Detail
0.048 Malignant neoplasm of prostate Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results... BeFree,GAD 24484606 Detail
0.048 Malignant neoplasm of prostate Specific genes involved in the DDR such as BRCA1/2 and P53 are mutated during pr... BeFree,GAD 25132269 Detail
0.048 Malignant neoplasm of prostate In a phase II study, researchers found that the PARP inhibitor olaparib led to s... BeFree,GAD 25583815 Detail
0.048 Malignant neoplasm of prostate Jewish BRCA1/2 mutation carriers are at an increased risk for breast and pancrea... BeFree,GAD 25788227 Detail
0.048 Malignant neoplasm of prostate Moreover, aberrations of BRCA2, BRCA1, and ATM were observed at substantially hi... BeFree,GAD 26000489 Detail
0.125 Chromosome Breakage NA CTD_human,GAD Detail
<0.001 Nijmegen breakage syndrome NA BeFree Detail
<0.001 Loss of interest NA BeFree Detail
<0.001 Occult carcinoma NA BeFree Detail
0.006 endometrial carcinoma The association between BRCA1 mutations and endometrial cancer has been investig... BeFree,GAD 24838932 Detail
0.006 endometrial carcinoma This study indicates that genetic polymorphisms of AURKA, BRCA1 and CCNE1 may co... BeFree,GAD 25463638 Detail
<0.001 Sleep Apnea, Obstructive NA BeFree Detail
<0.001 Recurrent tumor NA BeFree Detail
<0.001 Metabolic syndrome X NA BeFree Detail
<0.001 Malignant neoplasm of esophagus NA BeFree Detail
<0.001 Recurrent Carcinoma This multicenter phase II study enrolled individuals with a germline BRCA1/2 mut... BeFree 25366685 Detail
<0.001 tongue carcinoma NA BeFree Detail
0.046 Carcinogenesis Mutations in p53 and BRCA1 genes play a key role in ovarian serous carcinogenesi... BeFree 24681740 Detail
0.046 Carcinogenesis Accumulated evidences demonstrated that there is frequent chromosome loss of BRC... BeFree 25266802 Detail
0.046 Carcinogenesis BRCA1 and BRCA2 genes are critical in homologous recombination DNA repair and ha... BeFree 25526776 Detail
0.046 Carcinogenesis The BRCA1-associated genomic aberrations identified in this study provide possib... BeFree 25616998 Detail
0.046 Carcinogenesis Together, the results of this study support the hypothesis of a causative link b... BeFree 25830658 Detail
0.046 Carcinogenesis The purpose of this study was to evaluate the level of expression of the BRCA1 a... BeFree 25879355 Detail
0.046 Carcinogenesis Further on, we conclude that somatic inactivation of BRCA1 through spliciogenic ... BeFree 25884417 Detail
0.046 Carcinogenesis Furthermore, functional studies of MSH3 germline mutations confirmed the associa... BeFree 25927356 Detail
<0.001 Lymphoid neoplasm NA BeFree Detail
<0.001 Tumor Initiation NA BeFree Detail
0.020 prostate carcinoma Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results... BeFree 24484606 Detail
0.020 prostate carcinoma Specific genes involved in the DDR such as BRCA1/2 and P53 are mutated during pr... BeFree 25132269 Detail
0.020 prostate carcinoma In a phase II study, researchers found that the PARP inhibitor olaparib led to s... BeFree 25583815 Detail
0.020 prostate carcinoma Jewish BRCA1/2 mutation carriers are at an increased risk for breast and pancrea... BeFree 25788227 Detail
0.020 prostate carcinoma Moreover, aberrations of BRCA2, BRCA1, and ATM were observed at substantially hi... BeFree 26000489 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome Interventions to improve outcomes for mothers who may be at-risk for hereditary ... BeFree,CLINVAR,CTD_human,ORPHANET 23795707 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome The purpose of our study was to estimate the incidence and spectrum of pathogeni... BeFree,CLINVAR,CTD_human,ORPHANET 24372583 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome Detection of mutations within other genes than BRCA1 and BRCA2 highlights the ge... BeFree,CLINVAR,CTD_human,ORPHANET 24549055 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian canc... BeFree,CLINVAR,CTD_human,ORPHANET 24633894 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome Maximising survival: the main concern of women with hereditary breast and ovaria... BeFree,CLINVAR,CTD_human,ORPHANET 24731853 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome BRCA1 and BRCA2 are two well-known genes in the background of hereditary breast ... BeFree,CLINVAR,CTD_human,ORPHANET 24853695 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome Frequent recurrent mutations in the breast and ovarian cancer susceptibility (BR... BeFree,CLINVAR,CTD_human,ORPHANET 25236687 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome The importance of proper mutational analysis of BRCA1/2 in individuals at risk f... BeFree,CLINVAR,CTD_human,ORPHANET 25366421 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer are mainly linked to mutations in BRCA1 and... BeFree,CLINVAR,CTD_human,ORPHANET 25395318 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome We sought to determine the proportion of non-founder mutations as a percentage o... BeFree,CLINVAR,CTD_human,ORPHANET 25476495 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome Therefore, we sought to investigate the contribution of 19 genes identified in t... BeFree,CLINVAR,CTD_human,ORPHANET 25622547 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome We selected BRCA1/2 mutation carriers from an ongoing nationwide cohort study on... BeFree,CLINVAR,CTD_human,ORPHANET 25788320 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome Participation of Korean families at high risk for hereditary breast and ovarian ... BeFree,CLINVAR,CTD_human,ORPHANET 25838294 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome The Korean Hereditary Breast Cancer (KOHBRA) study was established to evaluate t... BeFree,CLINVAR,CTD_human,ORPHANET 25863477 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome Specific germline mutations in the hereditary breast-ovarian cancer susceptibili... BeFree,CLINVAR,CTD_human,ORPHANET 25925845 Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome Screening for BRCA1 and BRCA2 gene mutations is standard practice today for here... BeFree,CLINVAR,CTD_human,ORPHANET 26193202 Detail
0.032 Epithelial ovarian cancer At least 1 in 10 women with high-grade serous EOC has a BRCA1 or BRCA2 mutation. BeFree,GAD 24728189 Detail
0.032 Epithelial ovarian cancer High-grade serous ovarian cancer (HG-SOC), a major histologic type of epithelial... BeFree,GAD 24879340 Detail
0.032 Epithelial ovarian cancer There was a significant statistical difference in BRCA1 expression with regard t... BeFree,GAD 24935384 Detail
0.032 Epithelial ovarian cancer Ovarian carcinomas (OC) arising in BRCA1 and BRCA2 mutation carriers demonstrate... BeFree,GAD 25186150 Detail
0.032 Epithelial ovarian cancer Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed wi... BeFree,GAD 25398451 Detail
0.032 Epithelial ovarian cancer Methylation status and immunohistochemistry of BRCA1 in epithelial ovarian cance... BeFree,GAD 25422243 Detail
0.032 Epithelial ovarian cancer After imputation to 1000 Genomes Project data, we assessed associations of 11 mi... BeFree,GAD 25581431 Detail
0.032 Epithelial ovarian cancer Fertility treatments and invasive epithelial ovarian cancer risk in Jewish Israe... BeFree,GAD 25792249 Detail
0.032 Epithelial ovarian cancer These results confirm that RAD51C and RAD51D are moderate ovarian cancer suscept... BeFree,GAD 26261251 Detail
0.001 invasive cancer NA BeFree Detail
<0.001 Progressive Neoplastic Disease NA BeFree Detail
0.002 Carcinoma of lung NA BeFree Detail
0.003 Secondary malignant neoplasm of lymph node NA BeFree Detail
0.002 colon carcinoma NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
0.001 Malignant Female Reproductive System Neoplasm NA BeFree Detail
<0.001 Central neuroblastoma NA BeFree Detail
<0.001 Anxiety state NA BeFree Detail
<0.001 Postsurgical menopause NA BeFree Detail
<0.001 Premenopausal breast cancer However, the BRCA1 mutations associated with BC in Africa are scarcely character... BeFree 24729269 Detail
<0.001 Pelvic Cancer NA BeFree Detail
<0.001 Medullary Neoplasms NA BeFree Detail
0.003 psychological distress To investigate the influence of dyadic parenting relationships on psychological ... BeFree 23795707 Detail
<0.001 Sleep Disorders NA BeFree Detail
<0.001 Oestrogen deficiency NA BeFree Detail
0.007 Invasive breast carcinoma Women with invasive breast cancer and a pathogenic mutation in BRCA1 or BRCA2 we... BeFree 25187270 Detail
0.007 Invasive breast carcinoma The literature was searched in Pubmed and Embase up to June 2013 for studies on ... BeFree 25467311 Detail
<0.001 Endothelial dysfunction NA BeFree Detail
<0.001 breast adenocarcinoma NA BeFree Detail
0.001 Medullary carcinoma of breast NA BeFree Detail
0.001 Borderline ovarian tumour NA BeFree Detail
<0.001 Intraepithelial Neoplasia NA BeFree Detail
0.301 ovarian neoplasm Ovarian tumors deficient in Brca1 respond to treatment with cisplatin and olapar... BeFree,CTD_human,GAD,LHGDN 24748377 Detail
0.301 ovarian neoplasm Furthermore, deletion of miR-1255b, miR-148b*, and miR-193b* in independent coho... BeFree,CTD_human,GAD,LHGDN 24843000 Detail
0.301 ovarian neoplasm BRCA1-IRIS inactivation sensitizes ovarian tumors to cisplatin. BeFree,CTD_human,GAD,LHGDN 25132263 Detail
0.301 ovarian neoplasm BRCA1 is a major breast and ovarian cancer susceptibility gene, with mutations i... BeFree,CTD_human,GAD,LHGDN 25400280 Detail
<0.001 precancerous lesions NA BeFree Detail
<0.001 Ovarian adenocarcinoma NA BeFree Detail
0.002 Carcinoma of peritoneum NA BeFree Detail
<0.001 Colorectal cancer metastatic NA BeFree Detail
0.002 Coronary spastic angina NA GAD Detail
<0.001 salivary gland carcinoma NA BeFree Detail
0.011 Contralateral breast cancer Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 a... BeFree 24951267 Detail
0.011 Contralateral breast cancer Cumulative risk of second primary contralateral breast cancer in BRCA1/BRCA2 mut... BeFree 25467311 Detail
0.008 Invasive Ductal Breast Carcinoma NA BeFree,GAD Detail
0.280 Malignant neoplasm of ovary Genetic testing for BRCA1 and BRCA2 gene mutations, in conjunction with preventi... BeFree,GAD,UNIPROT 24199689 Detail
0.280 Malignant neoplasm of ovary Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with famil... BeFree,GAD,UNIPROT 24372583 Detail
0.280 Malignant neoplasm of ovary In this study, the nuclear expression levels of γ-H2AX and p53 using immunohisto... BeFree,GAD,UNIPROT 24681744 Detail
0.280 Malignant neoplasm of ovary The contribution of deleterious germline mutations in BRCA1, BRCA2 and the misma... BeFree,GAD,UNIPROT 24728189 Detail
0.280 Malignant neoplasm of ovary BRCA1 founder mutations compared to ovarian cancer in Belarus. BeFree,GAD,UNIPROT 24770866 Detail
0.280 Malignant neoplasm of ovary A MDP model for breast and ovarian cancer intervention strategies for BRCA1/2 mu... BeFree,GAD,UNIPROT 24771600 Detail
0.280 Malignant neoplasm of ovary BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Lat... BeFree,GAD,UNIPROT 24797986 Detail
0.280 Malignant neoplasm of ovary Predictors of RRO intentions were perceived risk for ovarian cancer (OR = 1.25, ... BeFree,GAD,UNIPROT 24839250 Detail
0.280 Malignant neoplasm of ovary With the exception of the role of germ-line and possibly somatic BRCA1 and BRCA2... BeFree,GAD,UNIPROT 24857070 Detail
0.280 Malignant neoplasm of ovary Our results could provide improvement in prediction and clinical management of H... BeFree,GAD,UNIPROT 24879340 Detail
0.280 Malignant neoplasm of ovary DNA-testing for BRCA1 and BRCA2 has become incorporated in the diagnostic proced... BeFree,GAD,UNIPROT 24894332 Detail
0.280 Malignant neoplasm of ovary Our multinomial logistic regression model demonstrated that no single factor was... BeFree,GAD,UNIPROT 24894343 Detail
0.280 Malignant neoplasm of ovary Ovarian cancer is a major cause of cancer deaths, yet there have been few known ... BeFree,GAD,UNIPROT 24909162 Detail
0.280 Malignant neoplasm of ovary In our previous study we described three LGRs in BRCA1 (exons 13-19, exon 17 and... BeFree,GAD,UNIPROT 24947589 Detail
0.280 Malignant neoplasm of ovary With the discovery of BRCA1 and BRCA2 gene mutations, and a more comprehensive a... BeFree,GAD,UNIPROT 24984781 Detail
0.280 Malignant neoplasm of ovary Such a dependency would also offer an explanation for the so-called BRCA-paradox... BeFree,GAD,UNIPROT 25036526 Detail
0.280 Malignant neoplasm of ovary Germline mutations of BRCA1 confer hereditary susceptibility to breast and ovari... BeFree,GAD,UNIPROT 25066119 Detail
0.280 Malignant neoplasm of ovary Germline deleterious mutations in the BRCA1/BRCA2 genes are associated with an i... BeFree,GAD,UNIPROT 25069718 Detail
0.280 Malignant neoplasm of ovary BRCA1 and BRCA2 are the most well-known breast and ovarian cancer susceptibility... BeFree,GAD,UNIPROT 25086635 Detail
0.280 Malignant neoplasm of ovary Taken together, these data strongly suggest that BRCA1-IRIS and/or BDNF/TrkB and... BeFree,GAD,UNIPROT 25132263 Detail
0.280 Malignant neoplasm of ovary Ovarian cancer (OC) mostly arises sporadically, but a fraction of cases are asso... BeFree,GAD,UNIPROT 25136623 Detail
0.280 Malignant neoplasm of ovary Population-based screening for breast and ovarian cancer risk due to BRCA1 and B... BeFree,GAD,UNIPROT 25192939 Detail
0.280 Malignant neoplasm of ovary Women who carry a BRCA1 or BRCA2 mutation are at high risk of breast and ovarian... BeFree,GAD,UNIPROT 25195694 Detail
0.280 Malignant neoplasm of ovary Individuals with a BRCA1 mutation did not have a significant increase in cancers... BeFree,GAD,UNIPROT 25224030 Detail
0.280 Malignant neoplasm of ovary BRCA1-carriers had a higher likelihood of a positive family history (FH) of brea... BeFree,GAD,UNIPROT 25231195 Detail
0.280 Malignant neoplasm of ovary The Mexican founder mutation (BRCA1 ex9-12del) accounted for 35% of BRCA-associa... BeFree,GAD,UNIPROT 25236687 Detail
0.280 Malignant neoplasm of ovary Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2... BeFree,GAD,UNIPROT 25238946 Detail
0.280 Malignant neoplasm of ovary The purpose of this study was to examine: (a) the effect of false-positive breas... BeFree,GAD,UNIPROT 25243716 Detail
0.280 Malignant neoplasm of ovary Impact of a paternal origin of germline BRCA1/2 mutations on the age at breast a... BeFree,GAD,UNIPROT 25251729 Detail
0.280 Malignant neoplasm of ovary The performance of BRCA1 immunohistochemistry for detecting germline, somatic, a... BeFree,GAD,UNIPROT 25281711 Detail
0.280 Malignant neoplasm of ovary Poly (ADP-ribose) polymerase 1 (PARP1) inhibitors are actively under clinical tr... BeFree,GAD,UNIPROT 25292178 Detail
0.280 Malignant neoplasm of ovary More than half of the women (54%) were aware that genetic tests to determine ris... BeFree,GAD,UNIPROT 25301325 Detail
0.280 Malignant neoplasm of ovary Inherited mutations in BRCA1 or BRCA2 (BRCA1/2) confer very high risk of breast ... BeFree,GAD,UNIPROT 25311111 Detail
0.280 Malignant neoplasm of ovary Women at high risk for ovarian cancer due to BRCA1 or BRCA2 mutation or family h... BeFree,GAD,UNIPROT 25311333 Detail
0.280 Malignant neoplasm of ovary A novel crosstalk between BRCA1 and sirtuin 1 in ovarian cancer. BeFree,GAD,UNIPROT 25323003 Detail
0.280 Malignant neoplasm of ovary Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA... BeFree,GAD,UNIPROT 25336561 Detail
0.280 Malignant neoplasm of ovary For ovarian cancer, meta-analysis demonstrated that both BRCA1 and BRCA2 mutatio... BeFree,GAD,UNIPROT 25348513 Detail
0.280 Malignant neoplasm of ovary Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer pati... BeFree,GAD,UNIPROT 25366421 Detail
0.280 Malignant neoplasm of ovary Olaparib is an oral poly (ADP-ribose) polymerase inhibitor with activity in germ... BeFree,GAD,UNIPROT 25366685 Detail
0.280 Malignant neoplasm of ovary We tested the COS performance in 436 Italian breast/ovarian cancer families incl... BeFree,GAD,UNIPROT 25373702 Detail
0.280 Malignant neoplasm of ovary To analyze the effect of germline mutations in BRCA1 and BRCA2 on mortality in p... BeFree,GAD,UNIPROT 25398451 Detail
0.280 Malignant neoplasm of ovary BRCA1 is a major breast and ovarian cancer susceptibility gene, with mutations i... BeFree,GAD,UNIPROT 25400280 Detail
0.280 Malignant neoplasm of ovary Screening for common mutations in BRCA1 and BRCA2 genes: interest in genetic tes... BeFree,GAD,UNIPROT 25418591 Detail
0.280 Malignant neoplasm of ovary A genomic instability score in discriminating nonequivalent outcomes of BRCA1/2 ... BeFree,GAD,UNIPROT 25437005 Detail
0.280 Malignant neoplasm of ovary We assessed the frequency of mutations in 17 predisposition genes, including BRC... BeFree,GAD,UNIPROT 25452441 Detail
0.280 Malignant neoplasm of ovary Three DNA-based homologous recombination deficiency (HRD) scores (HRD-loss of he... BeFree,GAD,UNIPROT 25475740 Detail
0.280 Malignant neoplasm of ovary The poly(ADP-ribose) polymerase inhibitor olaparib has shown antitumour activity... BeFree,GAD,UNIPROT 25481791 Detail
0.280 Malignant neoplasm of ovary BRCA1 as a nicotinamide adenine dinucleotide (NAD)-dependent metabolic switch in... BeFree,GAD,UNIPROT 25486197 Detail
0.280 Malignant neoplasm of ovary Recent studies support the following conclusions: first, oral contraceptive use ... BeFree,GAD,UNIPROT 25490378 Detail
0.280 Malignant neoplasm of ovary These studies have prompted the use of PARP inhibitors to treat BRCA1 and BRCA2-... BeFree,GAD,UNIPROT 25490527 Detail
0.280 Malignant neoplasm of ovary Risk-reducing salpingo-oophorectomy: a meta-analysis on impact on ovarian cancer... BeFree,GAD,UNIPROT 25494812 Detail
0.280 Malignant neoplasm of ovary Carboplatin and taxol resistance develops more rapidly in functional BRCA1 compa... BeFree,GAD,UNIPROT 25499884 Detail
0.280 Malignant neoplasm of ovary Among women with both breast and ovarian cancer, 22.4% (2,237/9,982) had a BRCA1... BeFree,GAD,UNIPROT 25503195 Detail
0.280 Malignant neoplasm of ovary BRCA1 is a multifunctional protein best known for its role in DNA repair and ass... BeFree,GAD,UNIPROT 25522274 Detail
0.280 Malignant neoplasm of ovary BRCA1 and BRCA2 genes are critical in homologous recombination DNA repair and ha... BeFree,GAD,UNIPROT 25526776 Detail
0.280 Malignant neoplasm of ovary After imputation to 1000 Genomes Project data, we assessed associations of 11 mi... BeFree,GAD,UNIPROT 25581431 Detail
0.280 Malignant neoplasm of ovary Therefore, we sought to investigate the contribution of 19 genes identified in t... BeFree,GAD,UNIPROT 25622547 Detail
0.280 Malignant neoplasm of ovary Inactivating germline mutations in the tumour suppressor gene BRCA1 are associat... BeFree,GAD,UNIPROT 25643705 Detail
0.280 Malignant neoplasm of ovary Characterization of three alternative transcripts of the BRCA1 gene in patients ... BeFree,GAD,UNIPROT 25683334 Detail
0.280 Malignant neoplasm of ovary Mutations in the BRCA1 and BRCA2 genes confer an increased lifetime risk for bre... BeFree,GAD,UNIPROT 25706666 Detail
0.280 Malignant neoplasm of ovary Pathogenic germline mutations in the BRCA1 gene predispose carriers to early ons... BeFree,GAD,UNIPROT 25724305 Detail
0.280 Malignant neoplasm of ovary Two decades beyond BRCA1/2: Homologous recombination, hereditary cancer risk and... BeFree,GAD,UNIPROT 25725131 Detail
0.280 Malignant neoplasm of ovary We investigated the clinical implications of the loss of XCI in ovarian cancer a... BeFree,GAD,UNIPROT 25742136 Detail
0.280 Malignant neoplasm of ovary Mutations in breast cancer susceptibility gene BRCA1 (breast cancer early-onset ... BeFree,GAD,UNIPROT 25748678 Detail
0.280 Malignant neoplasm of ovary Most sporadic breast and ovarian cancers express low levels of the breast cancer... BeFree,GAD,UNIPROT 25762631 Detail
0.280 Malignant neoplasm of ovary For the last 20 years, genetic tests have allowed unaffected women to determine ... BeFree,GAD,UNIPROT 25813728 Detail
0.280 Malignant neoplasm of ovary The tumor suppressors BRCA1 and BRCA2, key players at different stages of HR, ar... BeFree,GAD,UNIPROT 25833843 Detail
0.280 Malignant neoplasm of ovary BRCA1 and BRCA2 mutation carriers are predisposed to develop breast and ovarian ... BeFree,GAD,UNIPROT 25836596 Detail
0.280 Malignant neoplasm of ovary Association of type and location of BRCA1 and BRCA2 mutations with risk of breas... BeFree,GAD,UNIPROT 25849179 Detail
0.280 Malignant neoplasm of ovary Germline mutations in breast cancer susceptibility gene 1 (BRCA1) increase the r... BeFree,GAD,UNIPROT 25880076 Detail
0.280 Malignant neoplasm of ovary Pathogenic mutations in BRCA1/2 tumor suppressor genes increase the lifetime ris... BeFree,GAD,UNIPROT 25893891 Detail
0.280 Malignant neoplasm of ovary Although targeted screening for specific BRCA1 mutations can be offered to all P... BeFree,GAD,UNIPROT 25948282 Detail
0.280 Malignant neoplasm of ovary In the present study, breast tumor samples from Canadian and Saudi Arabian patie... BeFree,GAD,UNIPROT 25964535 Detail
0.280 Malignant neoplasm of ovary Further work to clarify the precise relationship between BRCA1/2 mutation genoty... BeFree,GAD,UNIPROT 25993149 Detail
0.280 Malignant neoplasm of ovary Here we present a complete screening of consecutive series of breast and ovarian... BeFree,GAD,UNIPROT 26193202 Detail
0.280 Malignant neoplasm of ovary Familial predisposition for ovarian cancer was defined as having a higher than 1... BeFree,GAD,UNIPROT 26248245 Detail
0.280 Malignant neoplasm of ovary These results confirm that RAD51C and RAD51D are moderate ovarian cancer suscept... BeFree,GAD,UNIPROT 26261251 Detail
0.280 Malignant neoplasm of ovary Inhibition of PARPs is a promising strategy for targeting cancers with defective... BeFree,GAD,UNIPROT 26268938 Detail
0.280 Malignant neoplasm of ovary Approximately 12.9% of all ovarian cancers in Ontario occur in the 0.7% of women... BeFree,GAD,UNIPROT 26341709 Detail
<0.001 Stage IV Esophageal Squamous Cell Carcinoma NA BeFree Detail
<0.001 Squamous cell carcinoma of the head and neck NA BeFree Detail
0.001 Ductal Carcinoma Breast cancer 1 (BRCA1)-associated breast cancers are mostly basal-like high-gra... BeFree 25417703 Detail
<0.001 Mammary Carcinoma, Human NA BeFree Detail
0.002 sarcoma This study aimed to determine whether the BRCA1 haplotype was associated with tr... BeFree 25602962 Detail
<0.001 Lymphocytic infiltration NA BeFree Detail
0.001 Atypical medullary carcinoma NA BeFree Detail
<0.001 Metaplastic carcinoma NA BeFree Detail
<0.001 Anxiety neurosis (finding) NA BeFree Detail
<0.001 Precursor B-cell lymphoblastic leukemia NA BeFree Detail
<0.001 Congenital malformation syndrome Here, we report the presence of biallelic BRCA1 mutations in a woman with multip... BeFree 25472942 Detail
0.007 Hereditary Malignant Neoplasm Interventions to improve outcomes for mothers who may be at-risk for hereditary ... BeFree 23795707 Detail
0.007 Hereditary Malignant Neoplasm A qualitative study was performed by four focus group interviews with 39 BRCA1/2... BeFree 25560807 Detail
0.007 Hereditary Malignant Neoplasm Therefore, we sought to investigate the contribution of 19 genes identified in t... BeFree 25622547 Detail
0.007 Hereditary Malignant Neoplasm This review article will discuss (1) the BRCA1 and BRCA2 genes within the larger... BeFree 25725131 Detail
0.007 Hereditary Malignant Neoplasm Development and analytical validation of a 25-gene next generation sequencing pa... BeFree 25886519 Detail
0.007 Hereditary Malignant Neoplasm Here we describe TP53 germline mutations found in French Canadian cancer familie... BeFree 25925845 Detail
0.009 Hereditary Nonpolyposis Colorectal Cancer The microarray consisted of probes corresponding to the exons and flanking intro... BeFree 25204323 Detail
0.009 Hereditary Nonpolyposis Colorectal Cancer Participants who underwent BRCA1/2 or Lynch syndrome genetic testing (n = 77; 2.... BeFree 25427996 Detail
0.009 Hereditary Nonpolyposis Colorectal Cancer In 66.6% of BRCA1 or BRCA2 mutation carriers and in 58.3% of LS mutation carrier... BeFree 25503195 Detail
0.009 Hereditary Nonpolyposis Colorectal Cancer Fifteen individuals had mutations in BRCA1 or BRCA2; 93% of these met the NCCN c... BeFree 25980754 Detail
<0.001 Hereditary Non-Polyposis Colon Cancer Type 2 NA BeFree Detail
<0.001 Hereditary Ovarian Carcinoma NA BeFree Detail
<0.001 Invasive Carcinoma NA BeFree Detail
<0.001 Locally Metastatic Malignant Neoplasm NA BeFree Detail
<0.001 Metaplastic breast carcinoma These preclinical findings suggest that patients with BRCA1-associated MBC may s... BeFree 26100884 Detail
<0.001 Breast Microglandular Adenosis NA BeFree Detail
<0.001 Ovarian Serous Adenocarcinoma NA BeFree Detail
0.001 pancreatic ductal adenocarcinoma NA BeFree Detail
0.038 Sporadic Breast Carcinoma BRCA1 gene exon 11 mutations in Uighur and Han women with early-onset sporadic b... BeFree 24969878 Detail
0.038 Sporadic Breast Carcinoma Forty breast cancers in BRCA1 mutation carriers and 40 age-matched sporadic brea... BeFree 25041042 Detail
0.038 Sporadic Breast Carcinoma However, somatic mutation of BRCA1 is infrequent in sporadic breast cancers. BeFree 25066119 Detail
0.038 Sporadic Breast Carcinoma BRCA1 PARsylation and/or RAP80 expression is defective in a subset of sporadic b... BeFree 25252691 Detail
0.038 Sporadic Breast Carcinoma The expression of miR-1179 was significantly associated with familial breast can... BeFree 25273865 Detail
0.038 Sporadic Breast Carcinoma In the first part of this review, we briefly discuss the function and regulation... BeFree 25329591 Detail
0.038 Sporadic Breast Carcinoma Early-onset diagnosis is an eligibility criterion for BRCA1 and BRCA2 (BRCA) tes... BeFree 25342642 Detail
0.038 Sporadic Breast Carcinoma The purpose of this study was to evaluate the level of expression of the BRCA1 a... BeFree 25879355 Detail
0.038 Sporadic Breast Carcinoma The promoter methylation status of this gene was also tested by methylation spec... BeFree 25880076 Detail
<0.001 Treatment related acute myeloid leukaemia NA BeFree Detail
<0.001 differentiated thyroid gland carcinoma NA BeFree Detail
<0.001 Metastatic Carcinoma NA BeFree Detail
<0.001 Cardiomyopathy, Familial Idiopathic NA BeFree Detail
0.326 Mammary Neoplasms Poly(ADP-ribose) polymerase (PARP) inhibitors are promising targeted treatment o... BeFree,CTD_human,GAD,LHGDN 24963051 Detail
0.326 Mammary Neoplasms Regulation of AKT by BRCA1 in both our cell model and BRCA1-mutated breast tumor... BeFree,CTD_human,GAD,LHGDN 25010005 Detail
0.326 Mammary Neoplasms However, there were significant differences according to average number of mutat... BeFree,CTD_human,GAD,LHGDN 25048467 Detail
0.326 Mammary Neoplasms Correlations between the expression levels of TGFβ1 and the miR181/BRCA1 axis we... BeFree,CTD_human,GAD,LHGDN 25103497 Detail
0.326 Mammary Neoplasms Using a one-step TaqMan-based qRT-PCR, 5 commonly used reference genes (ACTB, GA... BeFree,CTD_human,GAD,LHGDN 25445497 Detail
0.326 Mammary Neoplasms Thus, BRCA1 expression is critical for mediating the biological impact of vitami... BeFree,CTD_human,GAD,LHGDN 25460500 Detail
0.326 Mammary Neoplasms Integrated analysis of the global gene methylation and expression profiles of a ... BeFree,CTD_human,GAD,LHGDN 25531315 Detail
0.326 Mammary Neoplasms We also analyzed a large cohort of breast tumor samples for BRCA1-IRIS, Forkhead... BeFree,CTD_human,GAD,LHGDN 25583261 Detail
0.326 Mammary Neoplasms For this purpose, genomic and gene expression profiles of basal-like BRCA1-mutat... BeFree,CTD_human,GAD,LHGDN 25616998 Detail
0.326 Mammary Neoplasms The gene expression profiles of TNBCs are similar to those of breast tumours in ... BeFree,CTD_human,GAD,LHGDN 25682074 Detail
0.326 Mammary Neoplasms The distribution of histopathological features of invasive breast tumors in BRCA... BeFree,CTD_human,GAD,LHGDN 25857409 Detail
0.326 Mammary Neoplasms Further on, we conclude that somatic inactivation of BRCA1 through spliciogenic ... BeFree,CTD_human,GAD,LHGDN 25884417 Detail
0.002 Mammary Tumorigenesis NA BeFree Detail
<0.001 Primary Peritoneal Carcinoma NA BeFree Detail
<0.001 Cancer Cell Growth NA BeFree Detail
<0.001 ovarian clear cell adenocarcinoma NA BeFree Detail
<0.001 Tumor Immunity NA BeFree Detail
<0.001 Xenograft Model NA BeFree Detail
0.016 colorectal cancer BRCA1 and BRCA2 mutations and the risk for colorectal cancer. BeFree,GAD 25195694 Detail
<0.001 Ductal Breast Carcinoma Breast cancer 1 (BRCA1)-associated breast cancers are mostly basal-like high-gra... BeFree 25417703 Detail
<0.001 Apocrine Gland Carcinoma MLPA assay revealed gene copy gains of MYC, CCND1, ZNF703, CDH1, and TRAF4 in 50... BeFree 26208846 Detail
<0.001 Non-Neoplastic Disorder NA BeFree Detail
0.005 Unilateral Breast Carcinoma We studied 1,504 women with a known BRCA1 or BRCA2 mutation, 411 women with bila... BeFree 24951267 Detail
0.001 Mammographic Density Our findings suggest that, unlike percent mammographic density, computer-extract... BeFree 25159706 Detail
0.002 BREAST CANCER 3 Phenotypic analysis of familial breast cancer: comparison of BRCAx tumors with B... BeFree 25736863 Detail
<0.001 HYPERTRICHOSIS, CONGENITAL GENERALIZED NA BeFree Detail
<0.001 Breast Cancer, Familial Male NA BeFree Detail
0.002 uterine corpus cancer The association between BRCA1 mutations and endometrial cancer has been investig... BeFree 24838932 Detail
<0.001 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma NA BeFree Detail
<0.001 malignant neoplasm of breast stage I NA BeFree Detail
<0.001 malignant neoplasm of breast staging NA BeFree Detail
<0.001 liver carcinoma NA BeFree Detail
0.001 Li-fraumeni-like syndrome NA BeFree Detail
<0.001 RIDDLE syndrome NA BeFree Detail
<0.001 Promyelocytic leukemia NA BeFree Detail
0.121 Pancreatic carcinoma, familial NA BeFree,ORPHANET Detail
0.121 Prostate cancer, familial NA BeFree,ORPHANET Detail
<0.001 Nasopharyngeal carcinoma NA BeFree Detail
<0.001 limb ischemia NA BeFree Detail
<0.001 aggressive cancer NA BeFree Detail
<0.001 Multifocal Breast Carcinoma NA BeFree Detail
0.001 Early-Stage Breast Carcinoma NA BeFree Detail
<0.001 Contralateral Breast Carcinoma NA BeFree Detail
0.129 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. BeFree,CLINVAR 25472942 Detail
0.129 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) Since the Fanconi anemia (FA) pathway coordinates several DNA repair pathways, i... BeFree,CLINVAR 25583207 Detail
0.129 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) Forty-two deleterious germline mutations were identified in 21 genes of 34 patie... BeFree,CLINVAR 25927356 Detail
<0.001 Progressive cGVHD NA BeFree Detail
0.022 Triple Negative Breast Neoplasms Randomized clinical trials that incorporate biomarkers of response, including ge... BeFree 24857126 Detail
0.022 Triple Negative Breast Neoplasms A multi-institutional study on the association between BRCA1/BRCA2 mutational st... BeFree 24894343 Detail
0.022 Triple Negative Breast Neoplasms While up to 20% of women under 50 years of age with TNBC harbor germline mutatio... BeFree 25026298 Detail
0.022 Triple Negative Breast Neoplasms The highest AUC was obtained by shifting the age at diagnosis threshold criterio... BeFree 25138101 Detail
0.022 Triple Negative Breast Neoplasms miR-638 mediated regulation of BRCA1 affects DNA repair and sensitivity to UV an... BeFree 25228385 Detail
0.022 Triple Negative Breast Neoplasms miR-185 suppresses tumor proliferation by directly targeting E2F6 and DNMT1 and ... BeFree 25319390 Detail
0.022 Triple Negative Breast Neoplasms The nuclear grade (U = 2321.0, P = 0.030), ER (U = 4343.5, P = 0.041) and CerbB-... BeFree 25337278 Detail
0.022 Triple Negative Breast Neoplasms An overwhelming amount of data supports a strong association between BRCA1 mutat... BeFree 25342642 Detail
0.022 Triple Negative Breast Neoplasms Identification by array comparative genomic hybridization of a new amplicon on c... BeFree 25416589 Detail
0.022 Triple Negative Breast Neoplasms Mutation prevalence estimates suggest that patients with TNBC, regardless of age... BeFree 25452441 Detail
0.022 Triple Negative Breast Neoplasms BRCA1 promoter methylation was observed almost exclusively in triple negative br... BeFree 25475740 Detail
0.022 Triple Negative Breast Neoplasms BRCA1-like status associated with high-grade and triple-negative breast cancers. BeFree 25480832 Detail
0.022 Triple Negative Breast Neoplasms Subgroup analyses of 138 BRCA1 and 118 triple-negative breast cancer cases showe... BeFree 25522926 Detail
0.022 Triple Negative Breast Neoplasms These tumors account for 12-17 % of all breast cancers, preferentially affect yo... BeFree 25527230 Detail
0.022 Triple Negative Breast Neoplasms BRCA1-IRIS inactivation overcomes paclitaxel resistance in triple negative breas... BeFree 25583261 Detail
0.022 Triple Negative Breast Neoplasms Interestingly, we note that overexpression of LSD1 correlates with down-regulati... BeFree 25679396 Detail
0.022 Triple Negative Breast Neoplasms Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negativ... BeFree 25682074 Detail
0.022 Triple Negative Breast Neoplasms Androgen receptor, EGFR, and BRCA1 as biomarkers in triple-negative breast cance... BeFree 25695063 Detail
0.022 Triple Negative Breast Neoplasms The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with tripl... BeFree 25716084 Detail
0.022 Triple Negative Breast Neoplasms In view of the strong association between BRCA1 and TNBC, knowledge of baseline ... BeFree 25752562 Detail
0.022 Triple Negative Breast Neoplasms Hypermethylation of BRCA1 gene: implication for prognostic biomarker and therape... BeFree 25783183 Detail
0.022 Triple Negative Breast Neoplasms Two patients diagnosed with triple negative breast cancer (TNBC) were screened f... BeFree 25880076 Detail
<0.001 Breast cancer, lobular NA BeFree Detail
<0.001 Basal-Like Breast Carcinoma Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas require... BeFree 25616998 Detail
<0.001 Secondary malignant neoplasm of ovary NA BeFree Detail
0.003 High grade serous carcinoma We studied 102 high-grade serous carcinomas with known BRCA1 and BRCA2 genotype ... BeFree 24577588 Detail
<0.001 Diminished ovarian reserve Premature ovarian failure and diminished ovarian reserve have been noted both in... BeFree 25579682 Detail
0.014 adenocarcinoma NA BeFree,GAD,LHGDN Detail
<0.001 adenoma NA BeFree Detail
0.003 Alzheimer's disease NA LHGDN Detail
<0.001 amenorrhea NA BeFree Detail
<0.001 Anaplasia NA BeFree Detail
<0.001 anemia NA BeFree Detail
0.003 Anoxia NA LHGDN Detail
0.002 Anxiety Disorders NA BeFree Detail
<0.001 arteriosclerosis NA BeFree Detail
0.003 ataxia telangiectasia NA BeFree Detail
<0.001 atherosclerosis NA BeFree Detail
<0.001 Benign Ovarian Neoplasm NA BeFree Detail
0.005 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
<0.001 Bladder Neoplasm NA BeFree Detail
<0.001 Bloom syndrome NA BeFree Detail
0.005 Brain Neoplasms NA BeFree,GAD Detail
0.002 Malignant tumor of colon NA BeFree Detail
0.002 Malignant neoplasm of endometrium The association between BRCA1 mutations and endometrial cancer has been investig... BeFree 24838932 Detail
0.004 female breast carcinoma The four most frequent BRCA1 mutation (2798 T > C, 3971 G > A, 3971 G > A and 62... BeFree 25337278 Detail
<0.001 Malignant neoplasm of larynx NA BeFree Detail
0.002 basal cell carcinoma NA GAD Detail
0.016 Noninfiltrating Intraductal Carcinoma NA BeFree,GAD,LHGDN Detail
0.009 Non-small cell lung carcinoma Predictive role of RRM1 and BRCA1 mRNA expression on the clinical outcome of adv... BeFree 25078585 Detail
0.009 Non-small cell lung carcinoma Two biomarker-directed randomized trials in European and Chinese patients with n... BeFree 25164908 Detail
0.009 Non-small cell lung carcinoma The aim of this study was to examine the prognostic value of breast cancer susce... BeFree 25227663 Detail
<0.001 Carcinoma, Papillary NA BeFree Detail
<0.001 renal cell carcinoma NA BeFree Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
Annotation

Annotations

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Furthermore, deletion of miR-1255b, miR-148b*, and miR-193b* in independent cohorts of ovarian tumor... DisGeNET Detail
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BRCA1 and BRCA2 mutations and the risk for colorectal cancer. DisGeNET Detail
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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. DisGeNET Detail
Since the Fanconi anemia (FA) pathway coordinates several DNA repair pathways, including homologous ... DisGeNET Detail
Forty-two deleterious germline mutations were identified in 21 genes of 34 patients, including 18 (1... DisGeNET Detail
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For detection of BRCA1 mutations, we used a polymerase chain reaction single-stranded conformation p... DisGeNET Detail
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We have clarified the signaling and metabolic pathways (i.e. role of BRCA1 in DNA damage response), ... DisGeNET Detail
BRCA1 germline mutation and glioblastoma development: report of cases. DisGeNET Detail
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BRCA1 functions as a novel transcriptional cofactor in HIV-1 infection. DisGeNET Detail
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BRCA1, PARP1 and γH2AX in acute myeloid leukemia: Role as biomarkers of response to the PARP inhibit... DisGeNET Detail
The downregulation of BAP1 expression by BCR-ABL reduces the stability of BRCA1 in chronic myeloid l... DisGeNET Detail
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DH BC patients were on average not younger than single mutation carriers and did not have an excess ... DisGeNET Detail
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Individuals with a BRCA1 mutation did not have a significant increase in cancers other than breast a... DisGeNET Detail
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In contrast, all cases lacking BRCA1 or 2 abnormalities showed infiltrative metastases that containe... DisGeNET Detail
Normal ovarian epithelial cells overexpressing BRCA1-IRIS formed metastasis in mice when injected in... DisGeNET Detail
Wild-type genotypes of BRCA1 gene SNPs combined with micro-RNA over-expression in mammary tissue lea... DisGeNET Detail
Annual screening with MRI and mammography improves metastasis free survival in women with BRCA1 muta... DisGeNET Detail
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Loss of BRCA1 expression and Wilms tumor 1 (WT-1) overexpression were detected by immunohistochemica... DisGeNET Detail
This review highlights selected examples of a series of tumor suppressors, including the breast canc... DisGeNET Detail
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Genetic testing for BRCA1 and BRCA2 gene mutations, in conjunction with preventive salpingo-oophorec... DisGeNET Detail
Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset ... DisGeNET Detail
In this study, the nuclear expression levels of γ-H2AX and p53 using immunohistochemical (IHC) study... DisGeNET Detail
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ... DisGeNET Detail
BRCA1 founder mutations compared to ovarian cancer in Belarus. DisGeNET Detail
A MDP model for breast and ovarian cancer intervention strategies for BRCA1/2 mutation carriers. DisGeNET Detail
BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia. DisGeNET Detail
Predictors of RRO intentions were perceived risk for ovarian cancer (OR = 1.25, 95% CI = 1.14-1.37),... DisGeNET Detail
With the exception of the role of germ-line and possibly somatic BRCA1 and BRCA2 mutations and their... DisGeNET Detail
Our results could provide improvement in prediction and clinical management of HG-SOC, facilitate ou... DisGeNET Detail
DNA-testing for BRCA1 and BRCA2 has become incorporated in the diagnostic procedure of patients with... DisGeNET Detail
Our multinomial logistic regression model demonstrated that no single factor was sufficient, and at ... DisGeNET Detail
Ovarian cancer is a major cause of cancer deaths, yet there have been few known genetic risk factors... DisGeNET Detail
In our previous study we described three LGRs in BRCA1 (exons 13-19, exon 17 and exon 22) in Polish ... DisGeNET Detail
With the discovery of BRCA1 and BRCA2 gene mutations, and a more comprehensive assessment of heredit... DisGeNET Detail
Such a dependency would also offer an explanation for the so-called BRCA-paradox, characterized by B... DisGeNET Detail
Germline mutations of BRCA1 confer hereditary susceptibility to breast and ovarian cancer. DisGeNET Detail
Germline deleterious mutations in the BRCA1/BRCA2 genes are associated with an increased risk for th... DisGeNET Detail
BRCA1 and BRCA2 are the most well-known breast and ovarian cancer susceptibility genes. DisGeNET Detail
Taken together, these data strongly suggest that BRCA1-IRIS and/or BDNF/TrkB and NRG1/ErbB2 could se... DisGeNET Detail
Ovarian cancer (OC) mostly arises sporadically, but a fraction of cases are associated with mutation... DisGeNET Detail
Ovarian carcinomas (OC) arising in BRCA1 and BRCA2 mutation carriers demonstrate pronounced sensitiv... DisGeNET Detail
Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. DisGeNET Detail
Women who carry a BRCA1 or BRCA2 mutation are at high risk of breast and ovarian cancer, and may be ... DisGeNET Detail
Individuals with a BRCA1 mutation did not have a significant increase in cancers other than breast a... DisGeNET Detail
BRCA1-carriers had a higher likelihood of a positive family history (FH) of breast and/or ovarian ca... DisGeNET Detail
The Mexican founder mutation (BRCA1 ex9-12del) accounted for 35% of BRCA-associated ovarian cancers ... DisGeNET Detail
Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2, associated with He... DisGeNET Detail
The purpose of this study was to examine: (a) the effect of false-positive breast and ovarian cancer... DisGeNET Detail
Impact of a paternal origin of germline BRCA1/2 mutations on the age at breast and ovarian cancer di... DisGeNET Detail
The performance of BRCA1 immunohistochemistry for detecting germline, somatic, and epigenetic BRCA1 ... DisGeNET Detail
Poly (ADP-ribose) polymerase 1 (PARP1) inhibitors are actively under clinical trials for the treatme... DisGeNET Detail
More than half of the women (54%) were aware that genetic tests to determine risk for certain breast... DisGeNET Detail
Inherited mutations in BRCA1 or BRCA2 (BRCA1/2) confer very high risk of breast and ovarian cancers. DisGeNET Detail
Women at high risk for ovarian cancer due to BRCA1 or BRCA2 mutation or family history are recommend... DisGeNET Detail
A novel crosstalk between BRCA1 and sirtuin 1 in ovarian cancer. DisGeNET Detail
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. DisGeNET Detail
For ovarian cancer, meta-analysis demonstrated that both BRCA1 and BRCA2 mutation carriers had bette... DisGeNET Detail
Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recu... DisGeNET Detail
Olaparib is an oral poly (ADP-ribose) polymerase inhibitor with activity in germline BRCA1 and BRCA2... DisGeNET Detail
We tested the COS performance in 436 Italian breast/ovarian cancer families including 79 with BRCA1 ... DisGeNET Detail
To analyze the effect of germline mutations in BRCA1 and BRCA2 on mortality in patients with ovarian... DisGeNET Detail
BRCA1 is a major breast and ovarian cancer susceptibility gene, with mutations in this gene predispo... DisGeNET Detail
Screening for common mutations in BRCA1 and BRCA2 genes: interest in genetic testing of Tunisian fam... DisGeNET Detail
A genomic instability score in discriminating nonequivalent outcomes of BRCA1/2 mutations and in pre... DisGeNET Detail
We assessed the frequency of mutations in 17 predisposition genes, including BRCA1 and BRCA2, in a l... DisGeNET Detail
Three DNA-based homologous recombination deficiency (HRD) scores (HRD-loss of heterozygosity score (... DisGeNET Detail
The poly(ADP-ribose) polymerase inhibitor olaparib has shown antitumour activity in patients with pl... DisGeNET Detail
BRCA1 as a nicotinamide adenine dinucleotide (NAD)-dependent metabolic switch in ovarian cancer. DisGeNET Detail
Recent studies support the following conclusions: first, oral contraceptive use reduces ovarian canc... DisGeNET Detail
These studies have prompted the use of PARP inhibitors to treat BRCA1 and BRCA2-deficient ovarian ca... DisGeNET Detail
Risk-reducing salpingo-oophorectomy: a meta-analysis on impact on ovarian cancer risk and all cause ... DisGeNET Detail
Carboplatin and taxol resistance develops more rapidly in functional BRCA1 compared to dysfunctional... DisGeNET Detail
Among women with both breast and ovarian cancer, 22.4% (2,237/9,982) had a BRCA1 or BRCA2 mutation. DisGeNET Detail
BRCA1 is a multifunctional protein best known for its role in DNA repair and association with breast... DisGeNET Detail
BRCA1 and BRCA2 genes are critical in homologous recombination DNA repair and have been implicated i... DisGeNET Detail
After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic varian... DisGeNET Detail
Therefore, we sought to investigate the contribution of 19 genes identified in the literature as inc... DisGeNET Detail
Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a significan... DisGeNET Detail
Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer a... DisGeNET Detail
Mutations in the BRCA1 and BRCA2 genes confer an increased lifetime risk for breast and ovarian canc... DisGeNET Detail
Pathogenic germline mutations in the BRCA1 gene predispose carriers to early onset breast and ovaria... DisGeNET Detail
Two decades beyond BRCA1/2: Homologous recombination, hereditary cancer risk and a target for ovaria... DisGeNET Detail
We investigated the clinical implications of the loss of XCI in ovarian cancer and the association b... DisGeNET Detail
Mutations in breast cancer susceptibility gene BRCA1 (breast cancer early-onset 1) are associated wi... DisGeNET Detail
Most sporadic breast and ovarian cancers express low levels of the breast cancer susceptibility gene... DisGeNET Detail
For the last 20 years, genetic tests have allowed unaffected women to determine whether they are pre... DisGeNET Detail
The tumor suppressors BRCA1 and BRCA2, key players at different stages of HR, are frequently mutated... DisGeNET Detail
BRCA1 and BRCA2 mutation carriers are predisposed to develop breast and ovarian cancers, but the rea... DisGeNET Detail
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer... DisGeNET Detail
Germline mutations in breast cancer susceptibility gene 1 (BRCA1) increase the risk of breast and ov... DisGeNET Detail
Pathogenic mutations in BRCA1/2 tumor suppressor genes increase the lifetime risk for developing bre... DisGeNET Detail
Although targeted screening for specific BRCA1 mutations can be offered to all Polish breast or ovar... DisGeNET Detail
In the present study, breast tumor samples from Canadian and Saudi Arabian patients were screened fo... DisGeNET Detail
Further work to clarify the precise relationship between BRCA1/2 mutation genotype and clinical phen... DisGeNET Detail
Here we present a complete screening of consecutive series of breast and ovarian cancer patients for... DisGeNET Detail
Familial predisposition for ovarian cancer was defined as having a higher than 10% chance of having ... DisGeNET Detail
These results confirm that RAD51C and RAD51D are moderate ovarian cancer susceptibility genes and su... DisGeNET Detail
Inhibition of PARPs is a promising strategy for targeting cancers with defective DNA-damage repair, ... DisGeNET Detail
Approximately 12.9% of all ovarian cancers in Ontario occur in the 0.7% of women in the general popu... DisGeNET Detail
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We analysed BRCA1 single-nucleotide polymorphisms (SNPs) in tumour specimens from 135 advanced STS p... DisGeNET Detail
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Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2, associated with He... DisGeNET Detail
Recent studies support the following conclusions: first, oral contraceptive use reduces ovarian canc... DisGeNET Detail
Our Hereditary Cancer Registry was searched for gynecologic and peritoneal cancers linked to mutatio... DisGeNET Detail
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Patients with fallopian tube cancer had a significantly higher rate of breast cancer (25.6% vs 5.7%;... DisGeNET Detail
At data cutoff, 21 patients were included; 10 with breast, 9 with ovarian and 2 with fallopian tube ... DisGeNET Detail
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Immunohistochemical loss of BRCA1 protein in uterine serous carcinoma. DisGeNET Detail
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The four most frequent BRCA1 mutation (2798 T > C, 3971 G > A, 3971 G > A and 624 C > T) found in fe... DisGeNET Detail
The SIR for all BRCA1/2 mutation carriers compared with the rates in the general population were ele... DisGeNET Detail
BRCA1 and BRCA2 mutations sensitize to chemotherapy in patient-derived pancreatic cancer xenografts. DisGeNET Detail
Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutations. DisGeNET Detail
Using a TruSeq amplicon cancer panel, this study evaluated 48 familial MBCs (3 BRCA1 germline mutant... DisGeNET Detail
Patients with fallopian tube cancer had a significantly higher rate of breast cancer (25.6% vs 5.7%;... DisGeNET Detail
At data cutoff, 21 patients were included; 10 with breast, 9 with ovarian and 2 with fallopian tube ... DisGeNET Detail
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Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutations. DisGeNET Detail
Using a TruSeq amplicon cancer panel, this study evaluated 48 familial MBCs (3 BRCA1 germline mutant... DisGeNET Detail
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We found that 78% and 69% of BRCA1 and BRCA2 mutation carriers identified met the criteria for refer... DisGeNET Detail
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The analysis of the homopolymers stretches of 6 bp or longer using the BRCA HP kit (Multiplicom) inc... DisGeNET Detail
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Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effe... DisGeNET Detail
Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effe... DisGeNET Detail
Three pathogenic BRCA1 mutations (Cys61Gly, 3814del5, 5382insC) were identified in the group of pati... DisGeNET Detail
Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of s... DisGeNET Detail
The missense BRCA1 mutation C61G was associated with a higher odds ratio for breast cancer (OR=15) t... DisGeNET Detail
The missense BRCA1 mutation C61G was associated with a higher odds ratio for breast cancer (OR=15) t... DisGeNET Detail
Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of s... DisGeNET Detail
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We studied 1,504 women with a known BRCA1 or BRCA2 mutation, 411 women with bilateral breast cancer ... DisGeNET Detail
Patients with BRCA-1 and BRCA-2 germ line mutations are at an increased risk of developing pancreati... DisGeNET Detail
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DH BC patients were on average not younger than single mutation carriers and did not have an excess ... DisGeNET Detail
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Interestingly, BRCA1 proteins were decreased in the MM cells with BAP1 deletion, and transduction of... DisGeNET Detail
The contribution of BRCA1/BRCA2 mutations to hereditary breast cancer in the Tunisian population has... DisGeNET Detail
Wild-type genotypes of BRCA1 gene SNPs combined with micro-RNA over-expression in mammary tissue lea... DisGeNET Detail
Affymetrix GeneChip miRNA Arrays were used to perform miRNA expression analysis on 43 formalin-fixed... DisGeNET Detail
Evaluation of genetic variations in miRNA-binding sites of BRCA1 and BRCA2 genes as risk factors for... DisGeNET Detail
Clinicians should be aware of the wide variety of hereditary breast cancer syndromes beyond BRCA1 an... DisGeNET Detail
In 2013, in the UK in particular, there has been unprecedented publicity in hereditary breast cancer... DisGeNET Detail
We compared the pathological phenotype of BRCA1/BRCA2 negative familial breast cancer (BRCAx) to BRC... DisGeNET Detail
Studies in hereditary breast cancer have shown a negative psychological impact for patients testing ... DisGeNET Detail
Epigenetic changes in BRCA1-mutated familial breast cancer. DisGeNET Detail
Most of the previous studies of PALB2 have focused on familial breast cancer cases with normal/wild-... DisGeNET Detail
Although germline mutations of high-penetrance genes such as BRCA1/2 are implicated in development o... DisGeNET Detail
We conducted a case-control study to evaluate the involvement of heterozygote and homozygote haploty... DisGeNET Detail
The importance of analysis of long-range rearrangement of BRCA1 and BRCA2 in genetic diagnosis of fa... DisGeNET Detail
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The SIR for all BRCA1/2 mutation carriers compared with the rates in the general population were ele... DisGeNET Detail
BRCA1 and BRCA2 mutations sensitize to chemotherapy in patient-derived pancreatic cancer xenografts. DisGeNET Detail
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Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial sc... DisGeNET Detail
Specific genes involved in the DDR such as BRCA1/2 and P53 are mutated during prostate cancer progre... DisGeNET Detail
In a phase II study, researchers found that the PARP inhibitor olaparib led to stable disease or tum... DisGeNET Detail
Jewish BRCA1/2 mutation carriers are at an increased risk for breast and pancreatic, but not prostat... DisGeNET Detail
Moreover, aberrations of BRCA2, BRCA1, and ATM were observed at substantially higher frequencies (19... DisGeNET Detail
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The association between BRCA1 mutations and endometrial cancer has been investigated in several stud... DisGeNET Detail
This study indicates that genetic polymorphisms of AURKA, BRCA1 and CCNE1 may contribute to endometr... DisGeNET Detail
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This multicenter phase II study enrolled individuals with a germline BRCA1/2 mutation and recurrent ... DisGeNET Detail
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Mutations in p53 and BRCA1 genes play a key role in ovarian serous carcinogenesis. DisGeNET Detail
Accumulated evidences demonstrated that there is frequent chromosome loss of BRCA1 or significant BR... DisGeNET Detail
BRCA1 and BRCA2 genes are critical in homologous recombination DNA repair and have been implicated i... DisGeNET Detail
The BRCA1-associated genomic aberrations identified in this study provide possible leads to a better... DisGeNET Detail
Together, the results of this study support the hypothesis of a causative link between altered funct... DisGeNET Detail
The purpose of this study was to evaluate the level of expression of the BRCA1 and BRCA2 proteins in... DisGeNET Detail
Further on, we conclude that somatic inactivation of BRCA1 through spliciogenic mutations is, at bes... DisGeNET Detail
Furthermore, functional studies of MSH3 germline mutations confirmed the association between MSH3 mu... DisGeNET Detail
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Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial sc... DisGeNET Detail
Specific genes involved in the DDR such as BRCA1/2 and P53 are mutated during prostate cancer progre... DisGeNET Detail
In a phase II study, researchers found that the PARP inhibitor olaparib led to stable disease or tum... DisGeNET Detail
Jewish BRCA1/2 mutation carriers are at an increased risk for breast and pancreatic, but not prostat... DisGeNET Detail
Moreover, aberrations of BRCA2, BRCA1, and ATM were observed at substantially higher frequencies (19... DisGeNET Detail
Interventions to improve outcomes for mothers who may be at-risk for hereditary breast and ovarian c... DisGeNET Detail
The purpose of our study was to estimate the incidence and spectrum of pathogenic mutations in BRCA1... DisGeNET Detail
Detection of mutations within other genes than BRCA1 and BRCA2 highlights the genetic heterogeneity ... DisGeNET Detail
Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who shar... DisGeNET Detail
Maximising survival: the main concern of women with hereditary breast and ovarian cancer who undergo... DisGeNET Detail
BRCA1 and BRCA2 are two well-known genes in the background of hereditary breast and ovarian cancer. DisGeNET Detail
Frequent recurrent mutations in the breast and ovarian cancer susceptibility (BRCA) genes BRCA1 and ... DisGeNET Detail
The importance of proper mutational analysis of BRCA1/2 in individuals at risk for hereditary breast... DisGeNET Detail
Hereditary breast and ovarian cancer are mainly linked to mutations in BRCA1 and BRCA2 genes which c... DisGeNET Detail
We sought to determine the proportion of non-founder mutations as a percentage of all mutations in B... DisGeNET Detail
Therefore, we sought to investigate the contribution of 19 genes identified in the literature as inc... DisGeNET Detail
We selected BRCA1/2 mutation carriers from an ongoing nationwide cohort study on Hereditary Breast a... DisGeNET Detail
Participation of Korean families at high risk for hereditary breast and ovarian cancer in BRCA1/2 ge... DisGeNET Detail
The Korean Hereditary Breast Cancer (KOHBRA) study was established to evaluate the prevalence and sp... DisGeNET Detail
Specific germline mutations in the hereditary breast-ovarian cancer susceptibility (HBC/HBOC) genes,... DisGeNET Detail
Screening for BRCA1 and BRCA2 gene mutations is standard practice today for hereditary breast and ov... DisGeNET Detail
At least 1 in 10 women with high-grade serous EOC has a BRCA1 or BRCA2 mutation. DisGeNET Detail
High-grade serous ovarian cancer (HG-SOC), a major histologic type of epithelial ovarian cancer (EOC... DisGeNET Detail
There was a significant statistical difference in BRCA1 expression with regard to histological subty... DisGeNET Detail
Ovarian carcinomas (OC) arising in BRCA1 and BRCA2 mutation carriers demonstrate pronounced sensitiv... DisGeNET Detail
Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovaria... DisGeNET Detail
Methylation status and immunohistochemistry of BRCA1 in epithelial ovarian cancer. DisGeNET Detail
After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic varian... DisGeNET Detail
Fertility treatments and invasive epithelial ovarian cancer risk in Jewish Israeli BRCA1 or BRCA2 mu... DisGeNET Detail
These results confirm that RAD51C and RAD51D are moderate ovarian cancer susceptibility genes and su... DisGeNET Detail
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However, the BRCA1 mutations associated with BC in Africa are scarcely characterized. DisGeNET Detail
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To investigate the influence of dyadic parenting relationships on psychological distress among mothe... DisGeNET Detail
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Women with invasive breast cancer and a pathogenic mutation in BRCA1 or BRCA2 were included in the s... DisGeNET Detail
The literature was searched in Pubmed and Embase up to June 2013 for studies on CBC risk after a fir... DisGeNET Detail
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Ovarian tumors deficient in Brca1 respond to treatment with cisplatin and olaparib, a PARP inhibitor... DisGeNET Detail
Furthermore, deletion of miR-1255b, miR-148b*, and miR-193b* in independent cohorts of ovarian tumor... DisGeNET Detail
BRCA1-IRIS inactivation sensitizes ovarian tumors to cisplatin. DisGeNET Detail
BRCA1 is a major breast and ovarian cancer susceptibility gene, with mutations in this gene predispo... DisGeNET Detail
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Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation ca... DisGeNET Detail
Cumulative risk of second primary contralateral breast cancer in BRCA1/BRCA2 mutation carriers with ... DisGeNET Detail
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Genetic testing for BRCA1 and BRCA2 gene mutations, in conjunction with preventive salpingo-oophorec... DisGeNET Detail
Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset ... DisGeNET Detail
In this study, the nuclear expression levels of γ-H2AX and p53 using immunohistochemical (IHC) study... DisGeNET Detail
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ... DisGeNET Detail
BRCA1 founder mutations compared to ovarian cancer in Belarus. DisGeNET Detail
A MDP model for breast and ovarian cancer intervention strategies for BRCA1/2 mutation carriers. DisGeNET Detail
BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia. DisGeNET Detail
Predictors of RRO intentions were perceived risk for ovarian cancer (OR = 1.25, 95% CI = 1.14-1.37),... DisGeNET Detail
With the exception of the role of germ-line and possibly somatic BRCA1 and BRCA2 mutations and their... DisGeNET Detail
Our results could provide improvement in prediction and clinical management of HG-SOC, facilitate ou... DisGeNET Detail
DNA-testing for BRCA1 and BRCA2 has become incorporated in the diagnostic procedure of patients with... DisGeNET Detail
Our multinomial logistic regression model demonstrated that no single factor was sufficient, and at ... DisGeNET Detail
Ovarian cancer is a major cause of cancer deaths, yet there have been few known genetic risk factors... DisGeNET Detail
In our previous study we described three LGRs in BRCA1 (exons 13-19, exon 17 and exon 22) in Polish ... DisGeNET Detail
With the discovery of BRCA1 and BRCA2 gene mutations, and a more comprehensive assessment of heredit... DisGeNET Detail
Such a dependency would also offer an explanation for the so-called BRCA-paradox, characterized by B... DisGeNET Detail
Germline mutations of BRCA1 confer hereditary susceptibility to breast and ovarian cancer. DisGeNET Detail
Germline deleterious mutations in the BRCA1/BRCA2 genes are associated with an increased risk for th... DisGeNET Detail
BRCA1 and BRCA2 are the most well-known breast and ovarian cancer susceptibility genes. DisGeNET Detail
Taken together, these data strongly suggest that BRCA1-IRIS and/or BDNF/TrkB and NRG1/ErbB2 could se... DisGeNET Detail
Ovarian cancer (OC) mostly arises sporadically, but a fraction of cases are associated with mutation... DisGeNET Detail
Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. DisGeNET Detail
Women who carry a BRCA1 or BRCA2 mutation are at high risk of breast and ovarian cancer, and may be ... DisGeNET Detail
Individuals with a BRCA1 mutation did not have a significant increase in cancers other than breast a... DisGeNET Detail
BRCA1-carriers had a higher likelihood of a positive family history (FH) of breast and/or ovarian ca... DisGeNET Detail
The Mexican founder mutation (BRCA1 ex9-12del) accounted for 35% of BRCA-associated ovarian cancers ... DisGeNET Detail
Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2, associated with He... DisGeNET Detail
The purpose of this study was to examine: (a) the effect of false-positive breast and ovarian cancer... DisGeNET Detail
Impact of a paternal origin of germline BRCA1/2 mutations on the age at breast and ovarian cancer di... DisGeNET Detail
The performance of BRCA1 immunohistochemistry for detecting germline, somatic, and epigenetic BRCA1 ... DisGeNET Detail
Poly (ADP-ribose) polymerase 1 (PARP1) inhibitors are actively under clinical trials for the treatme... DisGeNET Detail
More than half of the women (54%) were aware that genetic tests to determine risk for certain breast... DisGeNET Detail
Inherited mutations in BRCA1 or BRCA2 (BRCA1/2) confer very high risk of breast and ovarian cancers. DisGeNET Detail
Women at high risk for ovarian cancer due to BRCA1 or BRCA2 mutation or family history are recommend... DisGeNET Detail
A novel crosstalk between BRCA1 and sirtuin 1 in ovarian cancer. DisGeNET Detail
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. DisGeNET Detail
For ovarian cancer, meta-analysis demonstrated that both BRCA1 and BRCA2 mutation carriers had bette... DisGeNET Detail
Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recu... DisGeNET Detail
Olaparib is an oral poly (ADP-ribose) polymerase inhibitor with activity in germline BRCA1 and BRCA2... DisGeNET Detail
We tested the COS performance in 436 Italian breast/ovarian cancer families including 79 with BRCA1 ... DisGeNET Detail
To analyze the effect of germline mutations in BRCA1 and BRCA2 on mortality in patients with ovarian... DisGeNET Detail
BRCA1 is a major breast and ovarian cancer susceptibility gene, with mutations in this gene predispo... DisGeNET Detail
Screening for common mutations in BRCA1 and BRCA2 genes: interest in genetic testing of Tunisian fam... DisGeNET Detail
A genomic instability score in discriminating nonequivalent outcomes of BRCA1/2 mutations and in pre... DisGeNET Detail
We assessed the frequency of mutations in 17 predisposition genes, including BRCA1 and BRCA2, in a l... DisGeNET Detail
Three DNA-based homologous recombination deficiency (HRD) scores (HRD-loss of heterozygosity score (... DisGeNET Detail
The poly(ADP-ribose) polymerase inhibitor olaparib has shown antitumour activity in patients with pl... DisGeNET Detail
BRCA1 as a nicotinamide adenine dinucleotide (NAD)-dependent metabolic switch in ovarian cancer. DisGeNET Detail
Recent studies support the following conclusions: first, oral contraceptive use reduces ovarian canc... DisGeNET Detail
These studies have prompted the use of PARP inhibitors to treat BRCA1 and BRCA2-deficient ovarian ca... DisGeNET Detail
Risk-reducing salpingo-oophorectomy: a meta-analysis on impact on ovarian cancer risk and all cause ... DisGeNET Detail
Carboplatin and taxol resistance develops more rapidly in functional BRCA1 compared to dysfunctional... DisGeNET Detail
Among women with both breast and ovarian cancer, 22.4% (2,237/9,982) had a BRCA1 or BRCA2 mutation. DisGeNET Detail
BRCA1 is a multifunctional protein best known for its role in DNA repair and association with breast... DisGeNET Detail
BRCA1 and BRCA2 genes are critical in homologous recombination DNA repair and have been implicated i... DisGeNET Detail
After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic varian... DisGeNET Detail
Therefore, we sought to investigate the contribution of 19 genes identified in the literature as inc... DisGeNET Detail
Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a significan... DisGeNET Detail
Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer a... DisGeNET Detail
Mutations in the BRCA1 and BRCA2 genes confer an increased lifetime risk for breast and ovarian canc... DisGeNET Detail
Pathogenic germline mutations in the BRCA1 gene predispose carriers to early onset breast and ovaria... DisGeNET Detail
Two decades beyond BRCA1/2: Homologous recombination, hereditary cancer risk and a target for ovaria... DisGeNET Detail
We investigated the clinical implications of the loss of XCI in ovarian cancer and the association b... DisGeNET Detail
Mutations in breast cancer susceptibility gene BRCA1 (breast cancer early-onset 1) are associated wi... DisGeNET Detail
Most sporadic breast and ovarian cancers express low levels of the breast cancer susceptibility gene... DisGeNET Detail
For the last 20 years, genetic tests have allowed unaffected women to determine whether they are pre... DisGeNET Detail
The tumor suppressors BRCA1 and BRCA2, key players at different stages of HR, are frequently mutated... DisGeNET Detail
BRCA1 and BRCA2 mutation carriers are predisposed to develop breast and ovarian cancers, but the rea... DisGeNET Detail
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer... DisGeNET Detail
Germline mutations in breast cancer susceptibility gene 1 (BRCA1) increase the risk of breast and ov... DisGeNET Detail
Pathogenic mutations in BRCA1/2 tumor suppressor genes increase the lifetime risk for developing bre... DisGeNET Detail
Although targeted screening for specific BRCA1 mutations can be offered to all Polish breast or ovar... DisGeNET Detail
In the present study, breast tumor samples from Canadian and Saudi Arabian patients were screened fo... DisGeNET Detail
Further work to clarify the precise relationship between BRCA1/2 mutation genotype and clinical phen... DisGeNET Detail
Here we present a complete screening of consecutive series of breast and ovarian cancer patients for... DisGeNET Detail
Familial predisposition for ovarian cancer was defined as having a higher than 10% chance of having ... DisGeNET Detail
These results confirm that RAD51C and RAD51D are moderate ovarian cancer susceptibility genes and su... DisGeNET Detail
Inhibition of PARPs is a promising strategy for targeting cancers with defective DNA-damage repair, ... DisGeNET Detail
Approximately 12.9% of all ovarian cancers in Ontario occur in the 0.7% of women in the general popu... DisGeNET Detail
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Breast cancer 1 (BRCA1)-associated breast cancers are mostly basal-like high-grade ductal carcinomas... DisGeNET Detail
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This study aimed to determine whether the BRCA1 haplotype was associated with trabectedin efficacy i... DisGeNET Detail
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Here, we report the presence of biallelic BRCA1 mutations in a woman with multiple congenital anomal... DisGeNET Detail
Interventions to improve outcomes for mothers who may be at-risk for hereditary breast and ovarian c... DisGeNET Detail
A qualitative study was performed by four focus group interviews with 39 BRCA1/2 mutation carriers a... DisGeNET Detail
Therefore, we sought to investigate the contribution of 19 genes identified in the literature as inc... DisGeNET Detail
This review article will discuss (1) the BRCA1 and BRCA2 genes within the larger context of homologo... DisGeNET Detail
Development and analytical validation of a 25-gene next generation sequencing panel that includes th... DisGeNET Detail
Here we describe TP53 germline mutations found in French Canadian cancer families provided from here... DisGeNET Detail
The microarray consisted of probes corresponding to the exons and flanking introns of BRCA1 and BRCA... DisGeNET Detail
Participants who underwent BRCA1/2 or Lynch syndrome genetic testing (n = 77; 2.42% of respondents) ... DisGeNET Detail
In 66.6% of BRCA1 or BRCA2 mutation carriers and in 58.3% of LS mutation carriers, >5 years passed b... DisGeNET Detail
Fifteen individuals had mutations in BRCA1 or BRCA2; 93% of these met the NCCN criteria for Lynch sy... DisGeNET Detail
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These preclinical findings suggest that patients with BRCA1-associated MBC may show poor response to... DisGeNET Detail
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BRCA1 gene exon 11 mutations in Uighur and Han women with early-onset sporadic breast cancer in the ... DisGeNET Detail
Forty breast cancers in BRCA1 mutation carriers and 40 age-matched sporadic breast cancers were immu... DisGeNET Detail
However, somatic mutation of BRCA1 is infrequent in sporadic breast cancers. DisGeNET Detail
BRCA1 PARsylation and/or RAP80 expression is defective in a subset of sporadic breast cancer cell li... DisGeNET Detail
The expression of miR-1179 was significantly associated with familial breast cancer patients without... DisGeNET Detail
In the first part of this review, we briefly discuss the function and regulation of the BRCA1 protei... DisGeNET Detail
Early-onset diagnosis is an eligibility criterion for BRCA1 and BRCA2 (BRCA) testing in sporadic bre... DisGeNET Detail
The purpose of this study was to evaluate the level of expression of the BRCA1 and BRCA2 proteins in... DisGeNET Detail
The promoter methylation status of this gene was also tested by methylation specific PCR as BRCA1 ex... DisGeNET Detail
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Poly(ADP-ribose) polymerase (PARP) inhibitors are promising targeted treatment options for hereditar... DisGeNET Detail
Regulation of AKT by BRCA1 in both our cell model and BRCA1-mutated breast tumors was suggested to p... DisGeNET Detail
However, there were significant differences according to average number of mutations and DNA copy-nu... DisGeNET Detail
Correlations between the expression levels of TGFβ1 and the miR181/BRCA1 axis were observed in prima... DisGeNET Detail
Using a one-step TaqMan-based qRT-PCR, 5 commonly used reference genes (ACTB, GAPDH, RPLPO, GUSB, an... DisGeNET Detail
Thus, BRCA1 expression is critical for mediating the biological impact of vitamin D3 in breast tumor... DisGeNET Detail
Integrated analysis of the global gene methylation and expression profiles of a set of 33 familial b... DisGeNET Detail
We also analyzed a large cohort of breast tumor samples for BRCA1-IRIS, Forkhead box class O3a (FOXO... DisGeNET Detail
For this purpose, genomic and gene expression profiles of basal-like BRCA1-mutated breast tumors (n ... DisGeNET Detail
The gene expression profiles of TNBCs are similar to those of breast tumours in women with BRCA1 mut... DisGeNET Detail
The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline ... DisGeNET Detail
Further on, we conclude that somatic inactivation of BRCA1 through spliciogenic mutations is, at bes... DisGeNET Detail
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BRCA1 and BRCA2 mutations and the risk for colorectal cancer. DisGeNET Detail
Breast cancer 1 (BRCA1)-associated breast cancers are mostly basal-like high-grade ductal carcinomas... DisGeNET Detail
MLPA assay revealed gene copy gains of MYC, CCND1, ZNF703, CDH1, and TRAF4 in 50% or greater of the ... DisGeNET Detail
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We studied 1,504 women with a known BRCA1 or BRCA2 mutation, 411 women with bilateral breast cancer ... DisGeNET Detail
Our findings suggest that, unlike percent mammographic density, computer-extracted mammographic text... DisGeNET Detail
Phenotypic analysis of familial breast cancer: comparison of BRCAx tumors with BRCA1-, BRCA2-carrier... DisGeNET Detail
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The association between BRCA1 mutations and endometrial cancer has been investigated in several stud... DisGeNET Detail
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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. DisGeNET Detail
Since the Fanconi anemia (FA) pathway coordinates several DNA repair pathways, including homologous ... DisGeNET Detail
Forty-two deleterious germline mutations were identified in 21 genes of 34 patients, including 18 (1... DisGeNET Detail
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Randomized clinical trials that incorporate biomarkers of response, including germline BRCA1 and BRC... DisGeNET Detail
A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-nega... DisGeNET Detail
While up to 20% of women under 50 years of age with TNBC harbor germline mutations in BRCA1, and the... DisGeNET Detail
The highest AUC was obtained by shifting the age at diagnosis threshold criterion from 40 to 35 year... DisGeNET Detail
miR-638 mediated regulation of BRCA1 affects DNA repair and sensitivity to UV and cisplatin in tripl... DisGeNET Detail
miR-185 suppresses tumor proliferation by directly targeting E2F6 and DNMT1 and indirectly upregulat... DisGeNET Detail
The nuclear grade (U = 2321.0, P = 0.030), ER (U = 4343.5, P = 0.041) and CerbB-2 (U = 3894.0, P = 0... DisGeNET Detail
An overwhelming amount of data supports a strong association between BRCA1 mutations and triple-nega... DisGeNET Detail
Identification by array comparative genomic hybridization of a new amplicon on chromosome 17q highly... DisGeNET Detail
Mutation prevalence estimates suggest that patients with TNBC, regardless of age at diagnosis or fam... DisGeNET Detail
BRCA1 promoter methylation was observed almost exclusively in triple negative breast cancer. DisGeNET Detail
BRCA1-like status associated with high-grade and triple-negative breast cancers. DisGeNET Detail
Subgroup analyses of 138 BRCA1 and 118 triple-negative breast cancer cases showed similar results. DisGeNET Detail
These tumors account for 12-17 % of all breast cancers, preferentially affect young women, are more ... DisGeNET Detail
BRCA1-IRIS inactivation overcomes paclitaxel resistance in triple negative breast cancers. DisGeNET Detail
Interestingly, we note that overexpression of LSD1 correlates with down-regulation of BRCA1 in tripl... DisGeNET Detail
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. DisGeNET Detail
Androgen receptor, EGFR, and BRCA1 as biomarkers in triple-negative breast cancer: a meta-analysis. DisGeNET Detail
The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast ca... DisGeNET Detail
In view of the strong association between BRCA1 and TNBC, knowledge of baseline mutation status can ... DisGeNET Detail
Hypermethylation of BRCA1 gene: implication for prognostic biomarker and therapeutic target in spora... DisGeNET Detail
Two patients diagnosed with triple negative breast cancer (TNBC) were screened for BRCA1 germline mu... DisGeNET Detail
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Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of t... DisGeNET Detail
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We studied 102 high-grade serous carcinomas with known BRCA1 and BRCA2 genotype from the archives of... DisGeNET Detail
Premature ovarian failure and diminished ovarian reserve have been noted both in female BRCA1/BRCA2 ... DisGeNET Detail
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The association between BRCA1 mutations and endometrial cancer has been investigated in several stud... DisGeNET Detail
The four most frequent BRCA1 mutation (2798 T > C, 3971 G > A, 3971 G > A and 624 C > T) found in fe... DisGeNET Detail
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Predictive role of RRM1 and BRCA1 mRNA expression on the clinical outcome of advanced non-small cell... DisGeNET Detail
Two biomarker-directed randomized trials in European and Chinese patients with nonsmall-cell lung ca... DisGeNET Detail
The aim of this study was to examine the prognostic value of breast cancer susceptibility gene 1 (BR... DisGeNET Detail
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We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386493716 dbSNP
Genome
hg19
Position
chr17:41,196,312-41,322,262
Variant Type
snv
Genome browser