chr2:47922958:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:47,922,958-48,037,202 |
| hg38 | chr2:47,695,819-47,810,063 |
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 |
|---|---|---|---|---|---|
| <0.001 | squamous cell carcinoma | Analysis of his small bowel SCC revealed loss of MSH2 and MSH6 protein expressio... | BeFree | 25674277 | Detail |
| <0.001 | Carcinoma, Transitional Cell | NA | BeFree | Detail | |
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| 0.016 | Colonic Neoplasms | NA | BeFree,GAD,LHGDN | Detail | |
| 0.021 | colorectal carcinoma | Lynch syndrome is the most common inherited CRC syndrome and is associated with ... | BeFree | 23891921 | Detail |
| 0.021 | colorectal carcinoma | LS was suspected due to a positive family history of CRC and because of MSI-H an... | BeFree | 24518836 | Detail |
| 0.021 | colorectal carcinoma | We identified three significantly associated mRNA-miRNA pairs: BCL2 was positive... | BeFree | 24895601 | Detail |
| 0.021 | colorectal carcinoma | Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MS... | BeFree | 25238946 | Detail |
| 0.021 | colorectal carcinoma | In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more t... | BeFree | 25345868 | Detail |
| 0.021 | colorectal carcinoma | Validation cohort: FFPE samples from 154 patients with primary stage III CRC (or... | BeFree | 25777966 | Detail |
| 0.021 | colorectal carcinoma | Heterogenous MSH6 loss was seen in colorectal carcinoma (n=18), endometrial carc... | BeFree | 26099011 | Detail |
| 0.030 | Colorectal Neoplasms | NA | BeFree,GAD,LHGDN | Detail | |
| 0.152 | Hereditary nonpolyposis colorectal neoplasms | NA | CTD_human,GAD,LHGDN | Detail | |
| <0.001 | Crohn Disease | NA | BeFree | Detail | |
| 0.135 | Endometrial Neoplasms | NA | CTD_human,GAD,LHGDN | Detail | |
| <0.001 | endometriosis | NA | BeFree | Detail | |
| <0.001 | Exanthema | NA | BeFree | Detail | |
| <0.001 | Fanconi anemia | NA | BeFree | Detail | |
| 0.002 | glioblastoma | Expression of DNA mismatch repair proteins MLH1, MSH2, and MSH6 in recurrent gli... | BeFree | 24995467 | Detail |
| 0.002 | glioblastoma | Here, we report that in GBM cells, even a modest decrease in the mismatch repair... | BeFree | 26025730 | Detail |
| 0.001 | Glioma | These data demonstrate that endogenous MSH6 mutations may be present before alky... | BeFree | 25078279 | Detail |
| 0.120 | IgA glomerulonephritis | NA | CTD_human | Detail | |
| 0.015 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.004 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... | BeFree | 25023197 | Detail |
| <0.001 | Intestinal Neoplasms | NA | BeFree | Detail | |
| <0.001 | keratoacanthoma | NA | BeFree | Detail | |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | NA | BeFree | Detail | |
| <0.001 | Leukemia, T-Cell | NA | BeFree | Detail | |
| <0.001 | Adult T-Cell Lymphoma/Leukemia | NA | BeFree | Detail | |
| <0.001 | leukopenia | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| <0.001 | Lung Neoplasms | NA | BeFree | Detail | |
| 0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Non-Hodgkin | NA | BeFree | Detail | |
| 0.004 | Malignant neoplasm of stomach | NA | BeFree,GAD | Detail | |
| <0.001 | medulloblastoma | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | neurofibromatosis 1 | NA | BeFree | Detail | |
| <0.001 | neutropenia | NA | BeFree | Detail | |
| <0.001 | oligodendroglioma | These data demonstrate that endogenous MSH6 mutations may be present before alky... | BeFree | 25078279 | Detail |
| <0.001 | Degenerative polyarthritis | NA | BeFree | Detail | |
| 0.003 | ovarian carcinoma | Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MS... | BeFree | 25238946 | Detail |
| 0.003 | ovarian carcinoma | In the ovarian cancer probands, the most frequently mutated genes were BRIP1 (n=... | BeFree | 25622547 | Detail |
| 0.003 | ovarian carcinoma | Clinicopathologic features and the expression pattern of MMR proteins (MLH1, MSH... | BeFree | 25695547 | Detail |
| 0.007 | Pancreatic Neoplasm | NA | GAD | Detail | |
| 0.120 | Peripheral neuropathy | NA | CTD_human | Detail | |
| <0.001 | Peutz-Jeghers syndrome | NA | BeFree | Detail | |
| <0.001 | pituitary adenoma | NA | BeFree | Detail | |
| 0.004 | Adenomatous Polyposis Coli | NA | BeFree,GAD | Detail | |
| <0.001 | polyps | NA | BeFree | Detail | |
| <0.001 | Precancerous Conditions | NA | BeFree | Detail | |
| <0.001 | prolactinoma | NA | BeFree | Detail | |
| <0.001 | Sebaceous Gland Neoplasms | Heterogenous MSH6 loss was seen in colorectal carcinoma (n=18), endometrial carc... | BeFree | 26099011 | Detail |
| <0.001 | Skin lesion | The immunohistochemical analysis of the skin lesion was an important tool to con... | BeFree | 26312706 | Detail |
| <0.001 | Atrial myxoma | NA | BeFree | Detail | |
| 0.120 | Adenocarcinoma of lung (disorder) | NA | CTD_human | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Germ cell tumor | NA | BeFree | Detail | |
| <0.001 | Sarcoma, Clear Cell | NA | BeFree | Detail | |
| <0.001 | Adenomatous Polyps | NA | BeFree | Detail | |
| <0.001 | sebaceous adenocarcinoma | LS was suspected due to a positive family history of CRC and because of MSI-H an... | BeFree | 24518836 | Detail |
| <0.001 | sebaceous adenocarcinoma | Eighteen (56%) of the 32 specimens with SA or SC displayed MMR-protein deficienc... | BeFree | 25457183 | Detail |
| <0.001 | Carcinoma, Endometrioid | NA | BeFree | Detail | |
| 0.005 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
| <0.001 | Mucosa-Associated Lymphoid Tissue Lymphoma | NA | BeFree | Detail | |
| 0.364 | Turcot syndrome (disorder) | Tumor MMR-deficiency was observed for 22 cases [69 %; 95 % confidence interval (... | BeFree,CLINVAR,CTD_human,ORPHANET | 25117503 | Detail |
| 0.364 | Turcot syndrome (disorder) | PMS2 and MSH6 loss covered 100% of cases with mismatch repair deficiency. | BeFree,CLINVAR,CTD_human,ORPHANET | 26619103 | Detail |
| <0.001 | Metastatic melanoma | NA | BeFree | Detail | |
| <0.001 | Cancer of Head and Neck | NA | BeFree | Detail | |
| <0.001 | Hyperplastic Polyp | NA | BeFree | Detail | |
| <0.001 | Hamartomatous polyp | NA | BeFree | Detail | |
| 0.004 | Multiple polyps | NA | BeFree | Detail | |
| <0.001 | gliomatosis cerebri | NA | BeFree | Detail | |
| <0.001 | anaplastic oligodendroglioma | Novel MSH6 mutations in treatment-naïve glioblastoma and anaplastic oligodendrog... | BeFree | 25078279 | Detail |
| <0.001 | Adenocarcinoma of colon | NA | BeFree | Detail | |
| <0.001 | Breast Cancer, Familial | NA | BeFree | Detail | |
| <0.001 | pituitary carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | gastric lymphoma | NA | BeFree | Detail | |
| 0.007 | Malignant neoplasm of prostate | Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutatio... | BeFree,GAD | 25117503 | Detail |
| 0.007 | Malignant neoplasm of prostate | Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced... | BeFree,GAD | 25255306 | Detail |
| 0.007 | Malignant neoplasm of prostate | Concurrent reduction of three MMR genes namely hMLH1, hMSH6 and hMSH2 (34-85%, P... | BeFree,GAD | 25938433 | Detail |
| 0.143 | endometrial carcinoma | The aims of this study were to define the prevalence and associations of deficie... | BeFree,CLINVAR,GAD | 25272293 | Detail |
| 0.143 | endometrial carcinoma | Heterogenous MSH6 loss is a result of microsatellite instability within MSH6 and... | BeFree,CLINVAR,GAD | 26099011 | Detail |
| <0.001 | Ewings sarcoma | NA | BeFree | Detail | |
| <0.001 | Malignant glioma | NA | BeFree | Detail | |
| 0.004 | Carcinogenesis | NA | BeFree | Detail | |
| 0.002 | prostate carcinoma | Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutatio... | BeFree | 25117503 | Detail |
| 0.002 | prostate carcinoma | Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced... | BeFree | 25255306 | Detail |
| 0.002 | prostate carcinoma | Concurrent reduction of three MMR genes namely hMLH1, hMSH6 and hMSH2 (34-85%, P... | BeFree | 25938433 | Detail |
| 0.003 | Epithelial ovarian cancer | The aim of this study was to estimate the contribution of deleterious mutations ... | BeFree,GAD | 24728189 | Detail |
| <0.001 | invasive cancer | NA | BeFree | Detail | |
| 0.004 | breast carcinoma | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of gastrointestinal tract | NA | BeFree | Detail | |
| 0.005 | colon carcinoma | The most common hereditary colon cancer susceptibility condition, Lynch syndrome... | BeFree | 24051481 | Detail |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Well Differentiated Oligodendroglioma | These data demonstrate that endogenous MSH6 mutations may be present before alky... | BeFree | 25078279 | Detail |
| <0.001 | Spots on skin | NA | BeFree | Detail | |
| <0.001 | Advanced cancer | NA | BeFree | Detail | |
| 0.125 | Microsatellite Instability | NA | CTD_human,GAD | Detail | |
| <0.001 | Polyp of large intestine | NA | BeFree | Detail | |
| 0.007 | Malignant neoplasm of ovary | Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MS... | BeFree,GAD | 25238946 | Detail |
| 0.007 | Malignant neoplasm of ovary | In the ovarian cancer probands, the most frequently mutated genes were BRIP1 (n=... | BeFree,GAD | 25622547 | Detail |
| 0.007 | Malignant neoplasm of ovary | Clinicopathologic features and the expression pattern of MMR proteins (MLH1, MSH... | BeFree,GAD | 25695547 | Detail |
| <0.001 | Atypical adenoma | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of large intestine | NA | BeFree | Detail | |
| 0.122 | Torre-Muir syndrome | NA | BeFree,ORPHANET | Detail | |
| <0.001 | Hereditary Malignant Neoplasm | NA | BeFree | Detail | |
| 0.277 | Hereditary Nonpolyposis Colorectal Cancer | Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the ... | BeFree,CLINVAR,GAD,ORPHANET | 25318681 | Detail |
| 0.277 | Hereditary Nonpolyposis Colorectal Cancer | In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more t... | BeFree,CLINVAR,GAD,ORPHANET | 25345868 | Detail |
| 0.277 | Hereditary Nonpolyposis Colorectal Cancer | Two MMR genes namely MLH1 and MSH2 account for majority of LS cases while MSH6 a... | BeFree,CLINVAR,GAD,ORPHANET | 25420488 | Detail |
| 0.277 | Hereditary Nonpolyposis Colorectal Cancer | C8 tracts were unstable in 2 of 4 MSH6-associated Lynch syndrome (LS) tumors, bu... | BeFree,CLINVAR,GAD,ORPHANET | 26099011 | Detail |
| 0.277 | Hereditary Nonpolyposis Colorectal Cancer | Germline mutations of DNA mismatch repair genes such as MLH1, MSH2, MSH6 and PMS... | BeFree,CLINVAR,GAD,ORPHANET | 26185136 | Detail |
| <0.001 | sebaceous adenoma | Eighteen (56%) of the 32 specimens with SA or SC displayed MMR-protein deficienc... | BeFree | 25457183 | Detail |
| <0.001 | Mammary Neoplasms | NA | BeFree | Detail | |
| <0.001 | Hepatocarcinogenesis | NA | BeFree | Detail | |
| 0.102 | colorectal cancer | Lynch syndrome is the most common inherited CRC syndrome and is associated with ... | BeFree,GAD | 23891921 | Detail |
| 0.102 | colorectal cancer | LS was suspected due to a positive family history of CRC and because of MSI-H an... | BeFree,GAD | 24518836 | Detail |
| 0.102 | colorectal cancer | We identified three significantly associated mRNA-miRNA pairs: BCL2 was positive... | BeFree,GAD | 24895601 | Detail |
| 0.102 | colorectal cancer | Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MS... | BeFree,GAD | 25238946 | Detail |
| 0.102 | colorectal cancer | In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more t... | BeFree,GAD | 25345868 | Detail |
| 0.102 | colorectal cancer | Validation cohort: FFPE samples from 154 patients with primary stage III CRC (or... | BeFree,GAD | 25777966 | Detail |
| <0.001 | Rash and Dermatitis Adverse Event Associated with Chemoradiation | Two cases status post neoadjuvant chemoradiation showed heterogenous MSH6 loss b... | BeFree | 26099011 | Detail |
| <0.001 | Glioblastoma multiforme | NA | BeFree | Detail | |
| <0.001 | Glucocorticoid Receptor Deficiency | NA | BeFree | Detail | |
| 0.009 | uterine corpus cancer | The aims of this study were to define the prevalence and associations of deficie... | BeFree | 25272293 | Detail |
| 0.120 | Breast-ovarian cancer, familial, susceptibility to, 1 | NA | CTD_human | Detail | |
| <0.001 | MUTYH-Associate Polyposis | This is the first report of two somatic MSH2 mutations leading to an MSI-H tumou... | BeFree | 24518836 | Detail |
| <0.001 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | NA | BeFree | Detail | |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 rs1... | BeFree | 25023197 | Detail |
| 0.008 | adenocarcinoma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | adenoma | NA | BeFree | Detail | |
| 0.003 | rheumatoid arthritis | NA | BeFree,LHGDN | Detail | |
| <0.001 | Astrocytoma | NA | BeFree | Detail | |
| 0.010 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| 0.001 | Brain Neoplasms | The risk of brain tumors was significantly higher (2.5%) in MSH2 gene mutation c... | BeFree | 25648859 | Detail |
| 0.015 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| 0.006 | Malignant tumor of colon | The most common hereditary colon cancer susceptibility condition, Lynch syndrome... | BeFree | 24051481 | Detail |
| 0.006 | Malignant tumor of colon | Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutatio... | BeFree | 25117503 | Detail |
| 0.009 | Malignant neoplasm of endometrium | The aims of this study were to define the prevalence and associations of deficie... | BeFree | 25272293 | Detail |
| 0.001 | Rectal Carcinoma | NA | BeFree | Detail | |
| <0.001 | Noninfiltrating Intraductal Carcinoma | NA | BeFree | Detail | |
| <0.001 | mucinous adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Analysis of his small bowel SCC revealed loss of MSH2 and MSH6 protein expression, suggesting a path... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lynch syndrome is the most common inherited CRC syndrome and is associated with mutations in DNA mis... | DisGeNET | Detail |
| LS was suspected due to a positive family history of CRC and because of MSI-H and MSH2-MSH6 deficien... | DisGeNET | Detail |
| We identified three significantly associated mRNA-miRNA pairs: BCL2 was positively associated with m... | DisGeNET | Detail |
| Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associa... | DisGeNET | Detail |
| In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more than 50 founder patho... | DisGeNET | Detail |
| Validation cohort: FFPE samples from 154 patients with primary stage III CRC (originally included in... | DisGeNET | Detail |
| Heterogenous MSH6 loss was seen in colorectal carcinoma (n=18), endometrial carcinoma (n=3), and seb... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Expression of DNA mismatch repair proteins MLH1, MSH2, and MSH6 in recurrent glioblastoma. | DisGeNET | Detail |
| Here, we report that in GBM cells, even a modest decrease in the mismatch repair (MMR) components MS... | DisGeNET | Detail |
| These data demonstrate that endogenous MSH6 mutations may be present before alkylator therapy and oc... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... | 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 |
| These data demonstrate that endogenous MSH6 mutations may be present before alkylator therapy and oc... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associa... | DisGeNET | Detail |
| In the ovarian cancer probands, the most frequently mutated genes were BRIP1 (n=8; 1.72%) and MSH6 (... | DisGeNET | Detail |
| Clinicopathologic features and the expression pattern of MMR proteins (MLH1, MSH2, and MSH6) were ch... | 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 |
| Heterogenous MSH6 loss was seen in colorectal carcinoma (n=18), endometrial carcinoma (n=3), and seb... | DisGeNET | Detail |
| The immunohistochemical analysis of the skin lesion was an important tool to confirm the diagnosis, ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| LS was suspected due to a positive family history of CRC and because of MSI-H and MSH2-MSH6 deficien... | DisGeNET | Detail |
| Eighteen (56%) of the 32 specimens with SA or SC displayed MMR-protein deficiency, comprising 17 (65... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Tumor MMR-deficiency was observed for 22 cases [69 %; 95 % confidence interval (CI) 50-83 %], with t... | DisGeNET | Detail |
| PMS2 and MSH6 loss covered 100% of cases with mismatch repair deficiency. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Novel MSH6 mutations in treatment-naïve glioblastoma and anaplastic oligodendroglioma contribute to ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutation carriers (23 MSH2,... | DisGeNET | Detail |
| Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer. | DisGeNET | Detail |
| Concurrent reduction of three MMR genes namely hMLH1, hMSH6 and hMSH2 (34-85%, P<0.05) was observed ... | DisGeNET | Detail |
| The aims of this study were to define the prevalence and associations of deficient mismatch repair (... | DisGeNET | Detail |
| Heterogenous MSH6 loss is a result of microsatellite instability within MSH6 and occurs in sporadic ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutation carriers (23 MSH2,... | DisGeNET | Detail |
| Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer. | DisGeNET | Detail |
| Concurrent reduction of three MMR genes namely hMLH1, hMSH6 and hMSH2 (34-85%, P<0.05) was observed ... | DisGeNET | Detail |
| The aim of this study was to estimate the contribution of deleterious mutations in BRCA1, BRCA2, MLH... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously kn... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These data demonstrate that endogenous MSH6 mutations may be present before alkylator therapy and oc... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associa... | DisGeNET | Detail |
| In the ovarian cancer probands, the most frequently mutated genes were BRIP1 (n=8; 1.72%) and MSH6 (... | DisGeNET | Detail |
| Clinicopathologic features and the expression pattern of MMR proteins (MLH1, MSH2, and MSH6) were ch... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian popu... | DisGeNET | Detail |
| In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more than 50 founder patho... | DisGeNET | Detail |
| Two MMR genes namely MLH1 and MSH2 account for majority of LS cases while MSH6 and PMS2 may account ... | DisGeNET | Detail |
| C8 tracts were unstable in 2 of 4 MSH6-associated Lynch syndrome (LS) tumors, but all 4 showed compl... | DisGeNET | Detail |
| Germline mutations of DNA mismatch repair genes such as MLH1, MSH2, MSH6 and PMS2 have been describe... | DisGeNET | Detail |
| Eighteen (56%) of the 32 specimens with SA or SC displayed MMR-protein deficiency, comprising 17 (65... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lynch syndrome is the most common inherited CRC syndrome and is associated with mutations in DNA mis... | DisGeNET | Detail |
| LS was suspected due to a positive family history of CRC and because of MSI-H and MSH2-MSH6 deficien... | DisGeNET | Detail |
| We identified three significantly associated mRNA-miRNA pairs: BCL2 was positively associated with m... | DisGeNET | Detail |
| Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associa... | DisGeNET | Detail |
| In Lynch syndrome (LS), a dominantly inherited colorectal cancer disease, more than 50 founder patho... | DisGeNET | Detail |
| Validation cohort: FFPE samples from 154 patients with primary stage III CRC (originally included in... | DisGeNET | Detail |
| Two cases status post neoadjuvant chemoradiation showed heterogenous MSH6 loss but were microsatelli... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aims of this study were to define the prevalence and associations of deficient mismatch repair (... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This is the first report of two somatic MSH2 mutations leading to an MSI-H tumour lacking MSH2-MSH6 ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 rs1800067>R415Q (rs1800... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The risk of brain tumors was significantly higher (2.5%) in MSH2 gene mutation carriers compared to ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously kn... | DisGeNET | Detail |
| Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutation carriers (23 MSH2,... | DisGeNET | Detail |
| The aims of this study were to define the prevalence and associations of deficient mismatch repair (... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- chr2:47,922,958-48,037,202
- Variant Type
- snv
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