chr13:32315086:> Detail (hg38) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,889,223-32,974,405 
hg38 chr13:32,315,086-32,400,268

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
Disease Drug EL ET ED CS VO TR Pubmed Links
breast cancer C Predisposing Supports Uncertain Significance Rare Germline 1 16088935 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Cardiovascular Diseases NA BeFree Detail
0.005 Neoplastic Cell Transformation NA GAD Detail
0.003 Congenital chromosomal disease NA BeFree Detail
0.005 Colonic Neoplasms NA BeFree,GAD Detail
0.005 colorectal carcinoma Although this report is based in a single family, it suggests that CRCs may be p... BeFree 24301060 Detail
0.005 colorectal carcinoma BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type ... BeFree 24814045 Detail
0.005 colorectal carcinoma BRCA1 and BRCA2 mutations and the risk for colorectal cancer. BeFree 25195694 Detail
0.005 Colorectal Neoplasms NA GAD Detail
<0.001 Presenile dementia NA BeFree Detail
<0.001 Diabetes NA BeFree Detail
<0.001 diabetes mellitus NA BeFree Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
0.007 DNA Damage NA GAD Detail
<0.001 Dwarfism NA BeFree Detail
0.005 Endometrial Neoplasms NA GAD,LHGDN Detail
0.003 endometriosis NA LHGDN Detail
0.006 Esophageal Neoplasms NA BeFree,GAD Detail
0.002 Eye Neoplasms NA GAD Detail
0.022 Fallopian Tube Neoplasms NA GAD,LHGDN Detail
0.267 Fanconi anemia Although this report is based in a single family, it suggests that CRCs may be p... BeFree,CTD_human,GAD,LHGDN,ORPHANET 24301060 Detail
0.267 Fanconi anemia Similar to BRCA2, germline mutations in PALB2 have been shown to predispose to F... BeFree,CTD_human,GAD,LHGDN,ORPHANET 24949998 Detail
0.267 Fanconi anemia Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanom... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25243787 Detail
0.267 Fanconi anemia Since the Fanconi anemia (FA) pathway coordinates several DNA repair pathways, i... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25583207 Detail
<0.001 Folic Acid Deficiency NA BeFree Detail
<0.001 fragile X syndrome Premature ovarian failure and diminished ovarian reserve have been noted both in... BeFree 25579682 Detail
0.002 Gastrointestinal Neoplasms NA GAD Detail
0.122 Glioma NA CTD_human,GAD Detail
<0.001 granulosa cell tumor NA BeFree Detail
<0.001 gynecomastia NA BeFree Detail
0.001 Hamartoma Syndrome, Multiple NA BeFree Detail
<0.001 Hemangiosarcoma NA BeFree Detail
0.002 Hodgkin Disease NA GAD Detail
0.003 male infertility NA BeFree,GAD Detail
<0.001 ischemia NA BeFree Detail
0.005 leukemia In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that ar... BeFree,LHGDN 24301060 Detail
0.004 chronic lymphocytic leukemia NA BeFree,GAD Detail
<0.001 Leukemia, Myelocytic, Acute NA BeFree Detail
<0.001 leukopenia NA BeFree Detail
<0.001 Liver neoplasms FLC samples also contained mutations in cancer-related genes such as BRCA2 (in 4... BeFree 25557953 Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
0.120 Lung Neoplasms NA CTD_human Detail
<0.001 lymphedema NA BeFree Detail
0.006 lymphoma NA BeFree,GAD Detail
0.002 Lymphoma, Non-Hodgkin NA GAD Detail
0.004 Malignant neoplasm of stomach Mutations of the BRCA2 (breast cancer 2, early onset) gene, found in 8% of our c... BeFree,GAD 25583476 Detail
0.080 Animal Mammary Neoplasms NA GAD Detail
0.024 melanoma The PALB2/BRCA2 protein interaction, as well as the increased melanoma risk obse... BeFree,GAD 24949998 Detail
0.024 melanoma Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanom... BeFree,GAD 25243787 Detail
<0.001 multiple endocrine neoplasia type 1 NA BeFree Detail
<0.001 meningioma NA BeFree Detail
<0.001 Mesothelioma NA BeFree Detail
<0.001 Metabolic Diseases NA BeFree Detail
0.002 Mouth Neoplasms NA GAD Detail
0.002 multiple sclerosis NA GAD Detail
<0.001 Mycoses NA BeFree Detail
<0.001 Myoclonus NA BeFree Detail
0.002 narcolepsy NA GAD Detail
0.007 Neoplasm Invasiveness NA GAD Detail
0.005 Neoplasm Recurrence, Local NA GAD Detail
<0.001 Embryonal Neoplasm NA BeFree Detail
0.005 Neoplasms, Multiple Primary NA GAD Detail
0.123 nephroblastoma A severe subset, due to mutations in FANCD1/BRCA2, has a cumulative incidence of... BeFree,CTD_human,GAD 25455269 Detail
<0.001 neurofibromatosis 1 NA BeFree Detail
<0.001 neutropenia NA BeFree Detail
0.005 oligospermia NA BeFree,GAD Detail
0.080 osteosarcoma NA BeFree,RGD Detail
0.002 Ovarian Diseases NA GAD Detail
0.147 Pancreatic Neoplasm NA BeFree,CTD_human,GAD,LHGDN Detail
0.120 Peripheral neuropathy NA CTD_human Detail
0.010 Peritoneal Neoplasms NA BeFree,GAD Detail
<0.001 Peutz-Jeghers syndrome NA BeFree Detail
<0.001 Pituitary Diseases NA BeFree Detail
<0.001 pneumonia NA BeFree Detail
<0.001 Adenomatous Polyposis Coli NA BeFree Detail
0.007 Precancerous Conditions NA GAD Detail
<0.001 Preleukemia NA BeFree Detail
0.216 Prostatic Neoplasms NA BeFree,CTD_human,GAD,LHGDN,RGD Detail
0.002 retinoblastoma NA BeFree Detail
<0.001 schizophrenia NA BeFree Detail
0.007 Skin Neoplasms NA GAD Detail
<0.001 sudden infant death syndrome To comprehensively assess the frequency and distribution of the most common BRCA... BeFree 25735359 Detail
<0.001 tuberculosis NA BeFree Detail
0.005 Uveal Neoplasms NA GAD Detail
0.003 B-Cell Lymphomas NA LHGDN Detail
0.003 diffuse large B-cell lymphoma NA BeFree,GAD Detail
<0.001 Central Nervous System Neoplasms NA BeFree Detail
<0.001 seasonal affective disorder NA BeFree Detail
0.002 Neoplasms, Second Primary NA GAD Detail
0.004 Li-Fraumeni syndrome NA BeFree,LHGDN Detail
<0.001 Depressive Symptoms NA BeFree Detail
0.080 cataract NA RGD Detail
<0.001 Adenocarcinoma of lung (disorder) NA BeFree Detail
<0.001 esophageal carcinoma NA BeFree Detail
0.003 Malignant tumor of peritoneum Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2... BeFree 25238946 Detail
0.003 Malignant tumor of peritoneum Recent studies support the following conclusions: first, oral contraceptive use ... BeFree 25490378 Detail
0.003 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
0.003 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 tumor of parathyroid gland NA BeFree Detail
<0.001 Secondary malignant neoplasm of lung NA BeFree Detail
<0.001 Secondary malignant neoplasm of bone NA BeFree Detail
<0.001 Stage 0 Breast Carcinoma NA BeFree Detail
<0.001 Aortic Aneurysm, Thoracic NA BeFree Detail
0.002 Tumor Progression NA BeFree Detail
<0.001 Familial Atypical Multiple Mole-Melanoma NA BeFree Detail
<0.001 Neuroectodermal Tumor, Primitive NA BeFree Detail
<0.001 Adenocarcinoma, Clear Cell NA BeFree Detail
<0.001 sebaceous adenocarcinoma NA BeFree Detail
<0.001 acinar cell carcinoma Whole exome sequencing reveals recurrent mutations in BRCA2 and FAT genes in aci... BeFree 25743105 Detail
0.003 Carcinoma, Lobular NA BeFree,GAD Detail
0.003 Cystadenocarcinoma, Serous NA BeFree,GAD Detail
0.120 Squamous Cell Neoplasms NA CTD_human Detail
0.003 uveal melanoma NA BeFree,GAD Detail
0.006 Malignant neoplasm of female breast Loss-of-function mutations in PALB2 are associated with an increased risk of bre... BeFree 25575445 Detail
0.019 pancreatic carcinoma Regarding the screening program for individuals with increased risk for PC, a co... BeFree 24756831 Detail
0.019 pancreatic carcinoma Individuals with a BRCA2 mutation had significantly higher numbers of observed c... BeFree 25224030 Detail
0.019 pancreatic carcinoma Increased in vitro and in vivo sensitivity of BRCA2-associated pancreatic cancer... BeFree 25864590 Detail
0.019 pancreatic carcinoma BRCA1 and BRCA2 mutations sensitize to chemotherapy in patient-derived pancreati... BeFree 26180923 Detail
0.018 Carcinoma of male breast Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutati... BeFree,GAD 25320599 Detail
0.018 Carcinoma of male breast Although other genes are also involved, predisposing genetic factors to MBC incl... BeFree,GAD 25529982 Detail
0.004 fallopian tube carcinoma At data cutoff, 21 patients were included; 10 with breast, 9 with ovarian and 2 ... BeFree 26180927 Detail
<0.001 Hereditary pancreatitis NA BeFree Detail
0.133 Malignant neoplasm of lung NA BeFree,GAD,GWASCAT Detail
0.020 Malignant neoplasm of male breast BRCA2-carriers were more likely to have a FH of male breast cancer compared to n... BeFree 25231195 Detail
0.020 Malignant neoplasm of male breast Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutati... BeFree 25320599 Detail
0.020 Malignant neoplasm of male breast Although other genes are also involved, predisposing genetic factors to MBC incl... BeFree 25529982 Detail
0.034 Breast Neoplasms, Male NA BeFree,GAD,LHGDN 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 Spastic syndrome The analysis of the homopolymers stretches of 6 bp or longer using the BRCA HP k... BeFree 25136594 Detail
<0.001 Familial Alzheimer Disease (FAD) NA BeFree Detail
<0.001 Carcinoma breast stage IV NA BeFree Detail
<0.001 Ovarian epithelial cancer recurrent NA BeFree Detail
0.001 Malignant Childhood Neoplasm NA BeFree Detail
0.003 Cancer of Head and Neck BRCA2 ASO treatment overcame acquired cisplatin resistance in head and neck canc... BeFree,GAD 24974076 Detail
0.002 Squamous cell carcinoma of esophagus NA BeFree Detail
<0.001 Adenocarcinoma Of Esophagus Mutational signature analysis also confirms that extreme genomic instability in ... BeFree 25351503 Detail
<0.001 Acinar cell carcinoma of pancreas NA BeFree Detail
<0.001 extraosseous Ewings sarcoma-primitive neuroepithelial tumor NA BeFree Detail
0.001 Solid tumour In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that ar... BeFree 24301060 Detail
<0.001 stage, ovarian epithelial cancer NA BeFree Detail
<0.001 laryngeal squamous cell carcinoma NA BeFree Detail
0.004 bilateral breast cancer We studied 1,504 women with a known BRCA1 or BRCA2 mutation, 411 women with bila... BeFree 24951267 Detail
0.003 Adenocarcinoma of pancreas Clinical outcomes in pancreatic adenocarcinoma associated with BRCA-2 mutation. BeFree 25304989 Detail
<0.001 cervix carcinoma NA BeFree Detail
<0.001 Senile Plaques NA BeFree Detail
<0.001 Papillary serous cystadenocarcinoma NA BeFree Detail
<0.001 Secretory breast carcinoma NA BeFree Detail
<0.001 Aphasia, Progressive NA BeFree Detail
<0.001 Maturity onset diabetes mellitus in young NA BeFree Detail
0.174 Breast Cancer, Familial The contribution of BRCA1/BRCA2 mutations to hereditary breast cancer in the Tun... BeFree,CLINVAR,GAD 24372583 Detail
0.174 Breast Cancer, Familial To ascertain whether D'Amico risk classification is an accurate discriminator of... BeFree,CLINVAR,GAD 24784491 Detail
0.174 Breast Cancer, Familial A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic r... BeFree,CLINVAR,GAD 25176351 Detail
0.174 Breast Cancer, Familial Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast can... BeFree,CLINVAR,GAD 25320599 Detail
0.174 Breast Cancer, Familial Evaluation of genetic variations in miRNA-binding sites of BRCA1 and BRCA2 genes... BeFree,CLINVAR,GAD 25339023 Detail
0.174 Breast Cancer, Familial Here, we use a genetically engineered mouse model of BRCA2-associated hereditary... BeFree,CLINVAR,GAD 25511378 Detail
0.174 Breast Cancer, Familial Germline mutations of DICER1 in Chinese women with BRCA1/BRCA2-negative familial... BeFree,CLINVAR,GAD 25526195 Detail
0.174 Breast Cancer, Familial We compared the pathological phenotype of BRCA1/BRCA2 negative familial breast c... BeFree,CLINVAR,GAD 25736863 Detail
0.174 Breast Cancer, Familial Studies in hereditary breast cancer have shown a negative psychological impact f... BeFree,CLINVAR,GAD 25786861 Detail
0.174 Breast Cancer, Familial Mutations in PALB2 are less common than BRCA1 and BRCA2 in familial breast cance... BeFree,CLINVAR,GAD 25794774 Detail
0.174 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
0.021 Malignant neoplasm of pancreas Regarding the screening program for individuals with increased risk for PC, a co... BeFree,GAD 24756831 Detail
0.021 Malignant neoplasm of pancreas Individuals with a BRCA2 mutation had significantly higher numbers of observed c... BeFree,GAD 25224030 Detail
0.021 Malignant neoplasm of pancreas Increased in vitro and in vivo sensitivity of BRCA2-associated pancreatic cancer... BeFree,GAD 25864590 Detail
0.021 Malignant neoplasm of pancreas BRCA1 and BRCA2 mutations sensitize to chemotherapy in patient-derived pancreati... BeFree,GAD 26180923 Detail
<0.001 Malignant tumor of exocrine pancreas NA BeFree Detail
<0.001 Carcinoma in situ of fallopian tube NA BeFree Detail
0.183 Malignant neoplasm of prostate Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results... BeFree,CLINVAR,GAD 24484606 Detail
0.183 Malignant neoplasm of prostate To ascertain whether D'Amico risk classification is an accurate discriminator of... BeFree,CLINVAR,GAD 24784491 Detail
0.183 Malignant neoplasm of prostate Patient-derived xenografts reveal that intraductal carcinoma of the prostate is ... BeFree,CLINVAR,GAD 25154392 Detail
0.183 Malignant neoplasm of prostate Individuals with a BRCA2 mutation had significantly higher numbers of observed c... BeFree,CLINVAR,GAD 25224030 Detail
0.183 Malignant neoplasm of prostate In addition, it was recently shown that aberrations in DNA repair genes, such as... BeFree,CLINVAR,GAD 26210103 Detail
0.003 Hematologic Neoplasms NA LHGDN Detail
0.002 Chromosome Breakage NA GAD Detail
<0.001 Carcinosarcoma of ovary NA BeFree Detail
<0.001 thrombophilia NA BeFree Detail
<0.001 Loss of interest NA BeFree Detail
<0.001 Developmental delay (disorder) NA BeFree Detail
0.002 endometrial carcinoma We queried TCGA data and found that BRCA2 alterations led to increased survival ... BeFree 24974076 Detail
<0.001 Secondary malignant neoplasm of liver NA BeFree Detail
<0.001 dementia NA BeFree Detail
<0.001 Recurrent tumor NA BeFree Detail
<0.001 Neurodegenerative Disorders NA BeFree Detail
0.010 Malignant neoplasm of esophagus NA BeFree,GAD Detail
<0.001 Thyroid carcinoma NA BeFree Detail
<0.001 Malignant melanoma of eye NA BeFree Detail
0.015 Carcinogenesis This study reveals an elaborate but highly organized molecular interplay between... BeFree 24835992 Detail
0.015 Carcinogenesis BRCA1 and BRCA2 genes are critical in homologous recombination DNA repair and ha... BeFree 25526776 Detail
0.015 Carcinogenesis While Aurora-A (Aur A) provokes, BRCA2 restrains primary tumorigenesis, the role... BeFree 25749384 Detail
0.015 Carcinogenesis The purpose of this study was to evaluate the level of expression of the BRCA1 a... BeFree 25879355 Detail
0.021 prostate carcinoma Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results... BeFree 24484606 Detail
0.021 prostate carcinoma To ascertain whether D'Amico risk classification is an accurate discriminator of... BeFree 24784491 Detail
0.021 prostate carcinoma Patient-derived xenografts reveal that intraductal carcinoma of the prostate is ... BeFree 25154392 Detail
0.021 prostate carcinoma Individuals with a BRCA2 mutation had significantly higher numbers of observed c... BeFree 25224030 Detail
0.021 prostate carcinoma In addition, it was recently shown that aberrations in DNA repair genes, such as... BeFree 26210103 Detail
0.391 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
0.391 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
0.391 Hereditary Breast and Ovarian Cancer Syndrome Frequent recurrent mutations in the breast and ovarian cancer susceptibility (BR... BeFree,CLINVAR,CTD_human,ORPHANET 25236687 Detail
0.391 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
0.391 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
0.391 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
0.391 Hereditary Breast and Ovarian Cancer Syndrome Specific germline mutations in the hereditary breast-ovarian cancer susceptibili... BeFree,CLINVAR,CTD_human,ORPHANET 25925845 Detail
0.391 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
<0.001 invasive cancer NA BeFree Detail
0.001 Carcinoma of lung NA BeFree Detail
<0.001 Ewings sarcoma-primitive neuroectodermal tumor (PNET) NA BeFree Detail
<0.001 Malignant neoplasm of gastrointestinal tract NA BeFree Detail
<0.001 Secondary malignant neoplasm of lymph node NA BeFree Detail
<0.001 Parathyroid Gland Adenocarcinoma NA BeFree Detail
0.001 colon carcinoma NA BeFree Detail
0.002 stomach carcinoma Mutations of the BRCA2 (breast cancer 2, early onset) gene, found in 8% of our c... BeFree 25583476 Detail
0.001 Malignant Female Reproductive System Neoplasm NA BeFree Detail
<0.001 Varicella zoster NA BeFree Detail
<0.001 Alzheimer Disease, Early Onset NA BeFree Detail
<0.001 Pelvic Cancer NA BeFree Detail
<0.001 malignant peripheral nerve sheath tumor NA BeFree Detail
<0.001 Medullary Neoplasms NA BeFree Detail
<0.001 Lewy Body Disease NA BeFree Detail
<0.001 psychological distress NA BeFree Detail
0.004 Invasive breast carcinoma NA BeFree Detail
<0.001 Rhabdoid Tumor of the Kidney Mutations in genes relating to genome integrity (TP53, BRCA2), chromatin remodel... BeFree 26364057 Detail
<0.001 Pancreatic adenocarcinoma metastatic NA BeFree Detail
<0.001 Borderline ovarian tumour NA BeFree Detail
<0.001 Intraepithelial Neoplasia NA BeFree Detail
<0.001 Carcinoma, Pancreatic Ductal NA BeFree Detail
0.363 ovarian neoplasm A more detailed analysis of these somatic mutations revealed a set of genes that... BeFree,CTD_human,GAD,LHGDN,RGD 25692405 Detail
<0.001 Carcinoma of peritoneum NA BeFree Detail
0.008 Contralateral breast cancer Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 a... BeFree 24951267 Detail
0.008 Contralateral breast cancer Cumulative risk of second primary contralateral breast cancer in BRCA1/BRCA2 mut... BeFree 25467311 Detail
0.003 Invasive Ductal Breast Carcinoma Assessment of changes in the BRCA2 and P53 genes in breast invasive ductal carci... BeFree,GAD 25027116 Detail
<0.001 High-Grade Prostatic Intraepithelial Neoplasia NA BeFree Detail
<0.001 Squamous cell carcinoma of the head and neck NA BeFree Detail
<0.001 Ductal Carcinoma NA BeFree Detail
<0.001 sarcoma NA BeFree Detail
<0.001 Atypical medullary carcinoma NA BeFree Detail
<0.001 Precursor B-cell lymphoblastic leukemia Thus, we propose low glucose transporter SLC2A5-inhibited human normal adjacent ... BeFree 25326153 Detail
<0.001 Pancreatic intraepithelial neoplasia NA BeFree Detail
<0.001 Liver regeneration disorder NA BeFree Detail
<0.001 BRCA1 Syndrome NA BeFree Detail
0.004 Hereditary Malignant Neoplasm We have conducted the study in a cohort of sporadic early-onset (≤35 years) brea... BeFree 25342642 Detail
0.004 Hereditary Malignant Neoplasm Therefore, we sought to investigate the contribution of 19 genes identified in t... BeFree 25622547 Detail
0.004 Hereditary Malignant Neoplasm This review article will discuss (1) the BRCA1 and BRCA2 genes within the larger... BeFree 25725131 Detail
0.004 Hereditary Malignant Neoplasm Development and analytical validation of a 25-gene next generation sequencing pa... BeFree 25886519 Detail
0.004 Hereditary Malignant Neoplasm Here we describe TP53 germline mutations found in French Canadian cancer familie... BeFree 25925845 Detail
0.007 Hereditary Nonpolyposis Colorectal Cancer Regarding the screening program for individuals with increased risk for PC, a co... BeFree 24756831 Detail
0.007 Hereditary Nonpolyposis Colorectal Cancer In this article, we review pertinent literature on the use of OCPs in patients w... BeFree 25146351 Detail
0.007 Hereditary Nonpolyposis Colorectal Cancer The microarray consisted of probes corresponding to the exons and flanking intro... BeFree 25204323 Detail
0.007 Hereditary Nonpolyposis Colorectal Cancer In 66.6% of BRCA1 or BRCA2 mutation carriers and in 58.3% of LS mutation carrier... BeFree 25503195 Detail
0.007 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 Ovarian Serous Adenocarcinoma NA BeFree Detail
0.002 pancreatic ductal adenocarcinoma Our findings support a personalized treatment approach for BRCA2-associated PDAC... BeFree 25864590 Detail
<0.001 Spinal Cord Primitive Neuroectodermal Tumor NA BeFree Detail
0.014 Sporadic Breast Carcinoma Early-onset diagnosis is an eligibility criterion for BRCA1 and BRCA2 (BRCA) tes... BeFree 25342642 Detail
0.014 Sporadic Breast Carcinoma The purpose of this study was to evaluate the level of expression of the BRCA1 a... BeFree 25879355 Detail
<0.001 Treatment related acute myeloid leukaemia NA BeFree Detail
0.302 Mammary Neoplasms Poly(ADP-ribose) polymerase (PARP) inhibitors are promising targeted treatment o... BeFree,CTD_human,GAD,LHGDN 24963051 Detail
0.302 Mammary Neoplasms BRCA2-deficient sarcomatoid mammary tumors exhibit multidrug resistance. BeFree,CTD_human,GAD,LHGDN 25511378 Detail
<0.001 Mammary Tumorigenesis NA BeFree Detail
<0.001 Primary Peritoneal Carcinoma NA BeFree Detail
<0.001 Cancer Cell Growth NA BeFree Detail
<0.001 Xenograft Model These findings were validated in a PDAC murine xenograft model derived from a pa... BeFree 25864590 Detail
0.007 colorectal cancer Although this report is based in a single family, it suggests that CRCs may be p... BeFree,GAD 24301060 Detail
0.007 colorectal cancer BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type ... BeFree,GAD 24814045 Detail
0.007 colorectal cancer BRCA1 and BRCA2 mutations and the risk for colorectal cancer. BeFree,GAD 25195694 Detail
<0.001 Non-Malignant Ascites Adverse Event NA BeFree Detail
0.003 Unilateral Breast Carcinoma We studied 1,504 women with a known BRCA1 or BRCA2 mutation, 411 women with bila... BeFree 24951267 Detail
<0.001 Meningioma, benign, no ICD-O subtype NA BeFree Detail
0.480 Malignant neoplasm of breast Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
<0.001 FRAGILE X TREMOR/ATAXIA SYNDROME NA BeFree Detail
0.002 BREAST CANCER 3 BRCA2 carriers and BRCAX patients with IDC-P had significantly worse overall and... BeFree 25154392 Detail
0.002 BREAST CANCER 3 Our findings suggest that BRCA1, BRCA2 and BRCAx tumors differ in phenotype from... BeFree 25736863 Detail
<0.001 Friedreich ataxia 1 NA BeFree Detail
<0.001 Breast Cancer, Familial Male NA BeFree Detail
0.002 uterine corpus cancer We queried TCGA data and found that BRCA2 alterations led to increased survival ... BeFree 24974076 Detail
<0.001 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma NA BeFree Detail
0.080 breast carcinoma Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
<0.001 malignant neoplasm of breast staging NA BeFree Detail
<0.001 liver carcinoma NA BeFree Detail
<0.001 Familial Atypical Mole Melanoma Syndrome NA BeFree Detail
<0.001 Li-fraumeni-like syndrome NA BeFree Detail
0.124 Pancreatic carcinoma, familial NA BeFree,ORPHANET Detail
0.122 Prostate cancer, familial There is now greater understanding for the genetic basis of familial prostate ca... BeFree,ORPHANET 26074382 Detail
<0.001 Nasopharyngeal carcinoma NA BeFree Detail
<0.001 Plaque, Amyloid NA BeFree Detail
<0.001 Antley-Bixler Syndrome, Autosomal Dominant 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
<0.001 myelodysplastic syndrome NA BeFree Detail
0.016 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanom... BeFree 25243787 Detail
0.016 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) Since the Fanconi anemia (FA) pathway coordinates several DNA repair pathways, i... BeFree 25583207 Detail
<0.001 Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor NA BeFree Detail
0.005 Triple Negative Breast Neoplasms Randomized clinical trials that incorporate biomarkers of response, including ge... BeFree 24857126 Detail
0.005 Triple Negative Breast Neoplasms A multi-institutional study on the association between BRCA1/BRCA2 mutational st... BeFree 24894343 Detail
0.005 Triple Negative Breast Neoplasms Limited family structure and TNBC are feasible predictors of BRCA mutation statu... BeFree 25342642 Detail
0.005 Triple Negative Breast Neoplasms Mutations in BRCA1 and BRCA2 or another breast cancer gene occur in one in four ... BeFree 25428789 Detail
0.005 Triple Negative Breast Neoplasms We assessed the frequency of mutations in 17 predisposition genes, including BRC... BeFree 25452441 Detail
0.005 Triple Negative Breast Neoplasms Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negativ... BeFree 25682074 Detail
0.005 Triple Negative Breast Neoplasms The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with tripl... BeFree 25716084 Detail
0.005 Triple Negative Breast Neoplasms At the most recent (5-year) follow-up, the patient was alive with good quality o... BeFree 26496295 Detail
<0.001 Breast cancer, lobular NA BeFree Detail
0.002 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
0.002 Spontaneous abortion NA GAD Detail
0.013 adenocarcinoma NA BeFree,GAD,LHGDN Detail
<0.001 Primary myelofibrosis NA BeFree Detail
<0.001 amenorrhea NA BeFree Detail
<0.001 Anxiety Disorders NA BeFree Detail
0.002 ataxia telangiectasia NA BeFree Detail
0.005 azoospermia NA BeFree,GAD,LHGDN Detail
<0.001 bipolar disorder NA BeFree Detail
0.005 Malignant neoplasm of urinary bladder NA GAD Detail
<0.001 Bloom syndrome NA BeFree Detail
0.003 Brain Neoplasms NA BeFree,GAD Detail
<0.001 Carcinoid Tumor NA BeFree Detail
0.001 Malignant tumor of colon NA BeFree Detail
0.002 Malignant neoplasm of endometrium We queried TCGA data and found that BRCA2 alterations led to increased survival ... BeFree 24974076 Detail
0.006 female breast carcinoma Loss-of-function mutations in PALB2 are associated with an increased risk of bre... BeFree 25575445 Detail
<0.001 Malignant neoplasm of larynx NA BeFree Detail
<0.001 Malignant neoplasm of thyroid NA BeFree Detail
0.002 basal cell carcinoma NA GAD Detail
0.015 Noninfiltrating Intraductal Carcinoma Patient-derived xenografts reveal that intraductal carcinoma of the prostate is ... BeFree,GAD,LHGDN 25154392 Detail
<0.001 Carcinoma, Papillary 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

DescrptionSourceLinks
De novo Alu element insertions were identified within the BRCA2 coding sequences in 3 out of 50 Port... CIViC Evidence Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Although this report is based in a single family, it suggests that CRCs may be part of the tumour sp... DisGeNET Detail
BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X. DisGeNET Detail
BRCA1 and BRCA2 mutations and the risk for colorectal cancer. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Although this report is based in a single family, it suggests that CRCs may be part of the tumour sp... DisGeNET Detail
Similar to BRCA2, germline mutations in PALB2 have been shown to predispose to Fanconi anaemia as we... DisGeNET Detail
Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. DisGeNET Detail
Since the Fanconi anemia (FA) pathway coordinates several DNA repair pathways, including homologous ... DisGeNET Detail
NA DisGeNET Detail
Premature ovarian failure and diminished ovarian reserve have been noted both in female BRCA1/BRCA2 ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with ea... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
FLC samples also contained mutations in cancer-related genes such as BRCA2 (in 4.2% of samples), whi... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutations of the BRCA2 (breast cancer 2, early onset) gene, found in 8% of our cohort and validated ... DisGeNET Detail
NA DisGeNET Detail
The PALB2/BRCA2 protein interaction, as well as the increased melanoma risk observed in families har... DisGeNET Detail
Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A severe subset, due to mutations in FANCD1/BRCA2, has a cumulative incidence of cancer of 97% by ag... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
To comprehensively assess the frequency and distribution of the most common BRCA1 and BRCA2 mutation... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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
NA DisGeNET Detail
At data cutoff, 21 patients were included; 10 with breast, 9 with ovarian and 2 with fallopian tube ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Whole exome sequencing reveals recurrent mutations in BRCA2 and FAT genes in acinar cell carcinomas ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Loss-of-function mutations in PALB2 are associated with an increased risk of breast cancer, with rec... DisGeNET Detail
Regarding the screening program for individuals with increased risk for PC, a consortium summit stat... DisGeNET Detail
Individuals with a BRCA2 mutation had significantly higher numbers of observed cases versus expected... DisGeNET Detail
Increased in vitro and in vivo sensitivity of BRCA2-associated pancreatic cancer to the poly(ADP-rib... 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
Although other genes are also involved, predisposing genetic factors to MBC include germline mutatio... DisGeNET Detail
At data cutoff, 21 patients were included; 10 with breast, 9 with ovarian and 2 with fallopian tube ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
BRCA2-carriers were more likely to have a FH of male breast cancer compared to noncarriers (P = 0.02... DisGeNET Detail
Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutations. DisGeNET Detail
Although other genes are also involved, predisposing genetic factors to MBC include germline mutatio... DisGeNET Detail
NA DisGeNET Detail
We found that 78% and 69% of BRCA1 and BRCA2 mutation carriers identified met the criteria for refer... DisGeNET Detail
The analysis of the homopolymers stretches of 6 bp or longer using the BRCA HP kit (Multiplicom) inc... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
BRCA2 ASO treatment overcame acquired cisplatin resistance in head and neck cancer cells, but induce... DisGeNET Detail
NA DisGeNET Detail
Mutational signature analysis also confirms that extreme genomic instability in EAC can be driven by... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with ea... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We studied 1,504 women with a known BRCA1 or BRCA2 mutation, 411 women with bilateral breast cancer ... DisGeNET Detail
Clinical outcomes in pancreatic adenocarcinoma associated with BRCA-2 mutation. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The contribution of BRCA1/BRCA2 mutations to hereditary breast cancer in the Tunisian population has... DisGeNET Detail
To ascertain whether D'Amico risk classification is an accurate discriminator of prostate cancer mor... DisGeNET Detail
A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in fam... DisGeNET Detail
Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer. DisGeNET Detail
Evaluation of genetic variations in miRNA-binding sites of BRCA1 and BRCA2 genes as risk factors for... DisGeNET Detail
Here, we use a genetically engineered mouse model of BRCA2-associated hereditary breast cancer to st... DisGeNET Detail
Germline mutations of DICER1 in Chinese women with BRCA1/BRCA2-negative familial 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
Mutations in PALB2 are less common than BRCA1 and BRCA2 in familial breast cancer patients. DisGeNET Detail
The importance of analysis of long-range rearrangement of BRCA1 and BRCA2 in genetic diagnosis of fa... DisGeNET Detail
NA DisGeNET Detail
Regarding the screening program for individuals with increased risk for PC, a consortium summit stat... DisGeNET Detail
Individuals with a BRCA2 mutation had significantly higher numbers of observed cases versus expected... DisGeNET Detail
Increased in vitro and in vivo sensitivity of BRCA2-associated pancreatic cancer to the poly(ADP-rib... DisGeNET Detail
BRCA1 and BRCA2 mutations sensitize to chemotherapy in patient-derived pancreatic cancer xenografts. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial sc... DisGeNET Detail
To ascertain whether D'Amico risk classification is an accurate discriminator of prostate cancer mor... DisGeNET Detail
Patient-derived xenografts reveal that intraductal carcinoma of the prostate is a prominent patholog... DisGeNET Detail
Individuals with a BRCA2 mutation had significantly higher numbers of observed cases versus expected... DisGeNET Detail
In addition, it was recently shown that aberrations in DNA repair genes, such as BRCA2 and ATM, are ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We queried TCGA data and found that BRCA2 alterations led to increased survival in patients with ova... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
This study reveals an elaborate but highly organized molecular interplay between Rad51 regulators an... DisGeNET Detail
BRCA1 and BRCA2 genes are critical in homologous recombination DNA repair and have been implicated i... DisGeNET Detail
While Aurora-A (Aur A) provokes, BRCA2 restrains primary tumorigenesis, the roles of Aur A and BRCA2... DisGeNET Detail
The purpose of this study was to evaluate the level of expression of the BRCA1 and BRCA2 proteins in... DisGeNET Detail
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial sc... DisGeNET Detail
To ascertain whether D'Amico risk classification is an accurate discriminator of prostate cancer mor... DisGeNET Detail
Patient-derived xenografts reveal that intraductal carcinoma of the prostate is a prominent patholog... DisGeNET Detail
Individuals with a BRCA2 mutation had significantly higher numbers of observed cases versus expected... DisGeNET Detail
In addition, it was recently shown that aberrations in DNA repair genes, such as BRCA2 and ATM, are ... DisGeNET Detail
Detection of mutations within other genes than BRCA1 and BRCA2 highlights the genetic heterogeneity ... 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
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
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
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutations of the BRCA2 (breast cancer 2, early onset) gene, found in 8% of our cohort and validated ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutations in genes relating to genome integrity (TP53, BRCA2), chromatin remodeling (ARID1A), cell a... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A more detailed analysis of these somatic mutations revealed a set of genes that are mutated in huma... DisGeNET Detail
NA DisGeNET Detail
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
Assessment of changes in the BRCA2 and P53 genes in breast invasive ductal carcinoma in northeast Br... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Thus, we propose low glucose transporter SLC2A5-inhibited human normal adjacent lung adenocarcinoma ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We have conducted the study in a cohort of sporadic early-onset (≤35 years) breast cancer patients (... 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
Regarding the screening program for individuals with increased risk for PC, a consortium summit stat... DisGeNET Detail
In this article, we review pertinent literature on the use of OCPs in patients with genetic suscepti... DisGeNET Detail
The microarray consisted of probes corresponding to the exons and flanking introns of BRCA1 and BRCA... 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
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our findings support a personalized treatment approach for BRCA2-associated PDAC. DisGeNET Detail
NA 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
NA DisGeNET Detail
Poly(ADP-ribose) polymerase (PARP) inhibitors are promising targeted treatment options for hereditar... DisGeNET Detail
BRCA2-deficient sarcomatoid mammary tumors exhibit multidrug resistance. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
These findings were validated in a PDAC murine xenograft model derived from a patient with bi-alleli... DisGeNET Detail
Although this report is based in a single family, it suggests that CRCs may be part of the tumour sp... DisGeNET Detail
BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X. DisGeNET Detail
BRCA1 and BRCA2 mutations and the risk for colorectal cancer. DisGeNET Detail
NA DisGeNET Detail
We studied 1,504 women with a known BRCA1 or BRCA2 mutation, 411 women with bilateral breast cancer ... DisGeNET Detail
NA DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
NA DisGeNET Detail
BRCA2 carriers and BRCAX patients with IDC-P had significantly worse overall and PCa-specific surviv... DisGeNET Detail
Our findings suggest that BRCA1, BRCA2 and BRCAx tumors differ in phenotype from non-familial and fa... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We queried TCGA data and found that BRCA2 alterations led to increased survival in patients with ova... DisGeNET Detail
NA DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
There is now greater understanding for the genetic basis of familial prostate cancer with identifica... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. DisGeNET Detail
Since the Fanconi anemia (FA) pathway coordinates several DNA repair pathways, including homologous ... DisGeNET Detail
NA DisGeNET Detail
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
Limited family structure and TNBC are feasible predictors of BRCA mutation status in sporadic early-... DisGeNET Detail
Mutations in BRCA1 and BRCA2 or another breast cancer gene occur in one in four African American bre... DisGeNET Detail
We assessed the frequency of mutations in 17 predisposition genes, including BRCA1 and BRCA2, in a l... DisGeNET Detail
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. DisGeNET Detail
The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast ca... DisGeNET Detail
At the most recent (5-year) follow-up, the patient was alive with good quality of life and no eviden... DisGeNET Detail
NA DisGeNET Detail
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
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We queried TCGA data and found that BRCA2 alterations led to increased survival in patients with ova... DisGeNET Detail
Loss-of-function mutations in PALB2 are associated with an increased risk of breast cancer, with rec... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Patient-derived xenografts reveal that intraductal carcinoma of the prostate is a prominent patholog... DisGeNET Detail
NA DisGeNET Detail
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
hg38
Position
chr13:32,315,086-32,400,268
Variant Type
snv
Variant (CIViC) (CIViC Variant)
TRUNCATING MUTATION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/708
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