MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1021631442
rs1021631442
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0007102
Disease:
Malignant tumor of colon
A 0.700 GeneticVariation CLINVAR Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. 23047549 2012
dbSNP: rs1021631442
rs1021631442
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0949059
Disease:
Polyp of large intestine
A 0.700 GeneticVariation CLINVAR Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. 23047549 2012
dbSNP: rs1021631442
rs1021631442
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
A 0.700 GeneticVariation CLINVAR Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. 23047549 2012
dbSNP: rs1023534466
rs1023534466
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0009402
Disease:
Colorectal Carcinoma
0.030 GeneticVariation BEFREE In conclusion, our data suggests thatMSH6 Glu39Gly polymorphism is associated with the risk of developing sporadic colorectal cancer in polish population. 28451866 2018
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.030 GeneticVariation BEFREE These findings suggest that hMSH6 Glu39Gly polymorphism is associated with the risk of developing colorectal cancer in the Polish population, probably due to a defective mismatch repair system. 29442465 2017
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0009402
Disease:
Colorectal Carcinoma
0.030 GeneticVariation BEFREE The MSH6 G39E germline polymorphism is not associated with an increased risk of either microsatellite stable or unstable sporadic colorectal cancer. 19582761 2009
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.030 GeneticVariation BEFREE The MSH6 G39E germline polymorphism is not associated with an increased risk of either microsatellite stable or unstable sporadic colorectal cancer. 19582761 2009
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0009402
Disease:
Colorectal Carcinoma
0.030 GeneticVariation BEFREE These findings suggest that hMSH6 Glu39Gly polymorphism is associated with the risk of developing colorectal cancer in the Polish population, probably due to a defective mismatch repair system. 29442465 2017
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.030 GeneticVariation BEFREE In conclusion, our data suggests thatMSH6 Glu39Gly polymorphism is associated with the risk of developing sporadic colorectal cancer in polish population. 28451866 2018
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0007102
Disease:
Malignant tumor of colon
0.020 GeneticVariation BEFREE The MSH6 Gly39Glu and MLH1 -93G>A polymorphisms were associated with risk of overall colon and MSI-positive colon cancers, respectively. 18523027 2009
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease:
Colon Carcinoma
0.020 GeneticVariation BEFREE A study was conducted to examine whether MLH1 (-93G>A and Ile219Val) and MSH6 (Gly39Glu) polymorphisms were associated with risk of colon cancer in data from 1609 colon cancer cases and 1972 controls. 18523027 2009
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0007102
Disease:
Malignant tumor of colon
0.020 GeneticVariation BEFREE In microsatellite stable tumors, homozygous carriers of the G39E polymorphism had an increased risk of CIMP+ colon cancer (odds ratio (OR) 2.2, 95% confidence interval (CI) 1.1, 4.2) and BRAF V600E mutation (OR 3.1, 95% CI 1.01, 9.7) in a case-control comparison. 19582761 2009
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. 19781088 2009
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. 18701435 2008
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer. 19781088 2009
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. 18701435 2008
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease:
Colon Carcinoma
0.020 GeneticVariation BEFREE In microsatellite stable tumors, homozygous carriers of the G39E polymorphism had an increased risk of CIMP+ colon cancer (odds ratio (OR) 2.2, 95% confidence interval (CI) 1.1, 4.2) and BRAF V600E mutation (OR 3.1, 95% CI 1.01, 9.7) in a case-control comparison. 19582761 2009
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0949059
Disease:
Polyp of large intestine
0.010 GeneticVariation BEFREE In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N=195), or both adenomas and hyperplastic polyps (N=123) versus polyp-free controls (N=624), we investigated the role of hMLH1-93G>A, hMLH1 I219V, and hMSH6 G39E polymorphisms in increasing the risk of colorectal polyps. 16771955 2006
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
0.010 GeneticVariation BEFREE Although the MSH6 G39E polymorphism is considered to be a biomarker of hereditary nonpolyposis colorectal cancer (HNPCC), many studies have also found that it may be associated with increased risks of lung, breast, and pancreatic cancers, with inconsistent estimated risks. 24622885 2014
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C3539878
Disease:
Triple Negative Breast Neoplasms
0.010 GeneticVariation BEFREE Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3 R940Q (rs184967), MSH6 G39E (rs1042821), POLD1 R119H (rs1726801), XRCC1 R194W (rs1799782), and XPC A499V (rs2228000) and/or deficiencies in 3 micronutrients (zinc, folate, and β-carotene). 25023197 2014
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE The present meta-analysis identified some statistical evidence for an association between the MSH6 G39E polymorphism and risk of cancer. 24622885 2014
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The objective of our investigation was to evaluate associations between the MSH6 G39E (116G>A) polymorphism and CpG island methylator phenotype (CIMP) and BRAF V600E mutations in tumors from a sample of 1048 individuals with colon cancer and 1964 controls from Utah, Northern California, and Minnesota. 19582761 2009
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE Although the MSH6 G39E polymorphism is considered to be a biomarker of hereditary nonpolyposis colorectal cancer (HNPCC), many studies have also found that it may be associated with increased risks of lung, breast, and pancreatic cancers, with inconsistent estimated risks. 24622885 2014
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C4722518
Disease:
Triple-Negative Breast Carcinoma
0.010 GeneticVariation BEFREE Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3 R940Q (rs184967), MSH6 G39E (rs1042821), POLD1 R119H (rs1726801), XRCC1 R194W (rs1799782), and XPC A499V (rs2228000) and/or deficiencies in 3 micronutrients (zinc, folate, and β-carotene). 25023197 2014