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: rs1187393388
rs1187393388
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C2931038
Disease:
Pancreatic carcinoma, familial
0.010 GeneticVariation BEFREE Specifically, our observation supports the association between the MSH6 c.2194C>T pathogenic variant and extracolonic tumours and it suggests that MSH6 pathogenic variants are associated with familial pancreatic cancer more frequently than assumed. 31851094 2020
dbSNP: rs587779930
rs587779930
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C2931038
Disease:
Pancreatic carcinoma, familial
0.010 GeneticVariation BEFREE Specifically, our observation supports the association between the MSH6 c.2194C>T pathogenic variant and extracolonic tumours and it suggests that MSH6 pathogenic variants are associated with familial pancreatic cancer more frequently than assumed. 31851094 2020
dbSNP: rs63751127
rs63751127
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1319315
Disease:
Adenocarcinoma of large intestine
0.010 GeneticVariation BEFREE We identified the MSH6 gene pathogenic variant c.2194C>T, p.(Arg732Ter) in a family with hereditary pancreatic cancer without diagnosed cases of colorectal adenocarcinoma. 31851094 2020
dbSNP: rs63751127
rs63751127
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C2931038
Disease:
Pancreatic carcinoma, familial
0.010 GeneticVariation BEFREE Specifically, our observation supports the association between the MSH6 c.2194C>T pathogenic variant and extracolonic tumours and it suggests that MSH6 pathogenic variants are associated with familial pancreatic cancer more frequently than assumed. 31851094 2020
dbSNP: rs587781462
rs587781462
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE To the best of our knowledge, this is the first description of MSH6 T767I pathogenic variant that could be associated with a hereditary endometrial cancer. 31100584 2019
dbSNP: rs587781462
rs587781462
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE To the best of our knowledge, this is the first description of MSH6 T767I pathogenic variant that could be associated with a hereditary endometrial cancer. 31100584 2019
dbSNP: rs773162893
rs773162893
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
0.010 GeneticVariation BEFREE Here, we report substitution of one base-pair in exon 1 of MLH3 (c.1397C>A) and a frameshift mutation in exon 19 of MLH1 (c.2250_2251ins AA) in a 43-year-old Chinese male with an LS pedigree. 30614234 2019
dbSNP: rs773162893
rs773162893
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C4552100
Disease:
Lynch Syndrome
0.010 GeneticVariation BEFREE Here, we report substitution of one base-pair in exon 1 of MLH3 (c.1397C>A) and a frameshift mutation in exon 19 of MLH1 (c.2250_2251ins AA) in a 43-year-old Chinese male with an LS pedigree. 30614234 2019
dbSNP: rs2020912
rs2020912
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C3539878
Disease:
Triple Negative Breast Neoplasms
0.010 GeneticVariation BEFREE Whole exome sequencing in triple negative breast cancer cases (n = 8) and targeted sequencing in healthy controls (n = 48) revealed BRIP1 rs552752779 (MAF: 75% vs. 6.25%, OR 45.00, 95% CI 9.43-243.32), ERBB2 rs527779103 (MAF: 62.5% vs. 7.29%, OR 21.19, 95% CI 5.11-94.32), ERCC2 rs121913016 (MAF: 56.25% vs. 7.29%, OR 16.34, 95% CI 4.02-70.41), MSH6 rs2020912 (MAF: 56.25% vs. 1.04%, OR 122.13, 95% CI 12.29-2985.48) as risk factors for triple negative breast cancer. 30136158 2018
dbSNP: rs2020912
rs2020912
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C4722518
Disease:
Triple-Negative Breast Carcinoma
0.010 GeneticVariation BEFREE Whole exome sequencing in triple negative breast cancer cases (n = 8) and targeted sequencing in healthy controls (n = 48) revealed BRIP1 rs552752779 (MAF: 75% vs. 6.25%, OR 45.00, 95% CI 9.43-243.32), ERBB2 rs527779103 (MAF: 62.5% vs. 7.29%, OR 21.19, 95% CI 5.11-94.32), ERCC2 rs121913016 (MAF: 56.25% vs. 7.29%, OR 16.34, 95% CI 4.02-70.41), MSH6 rs2020912 (MAF: 56.25% vs. 1.04%, OR 122.13, 95% CI 12.29-2985.48) as risk factors for triple negative breast cancer. 30136158 2018
dbSNP: rs863225401
rs863225401
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Molecular analyses of tumor and blood tissues revealed an <i>MSH6</i> homozygous c.1883G>A mutation consistent with CMMRD. 30104292 2018
dbSNP: rs863225401
rs863225401
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0017636
Disease:
Glioblastoma
0.010 GeneticVariation BEFREE In this report, we present the case of a 5-year-old female with GBM and CMMRD due to an <i>MSH6</i> homozygous c.1883G>A mutation, who continues to experience an exceptional and durable response (9 months) to the immune checkpoint inhibitor (ICPI) nivolumab. 30104292 2018
dbSNP: rs863225401
rs863225401
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1621958
Disease:
Glioblastoma Multiforme
0.010 GeneticVariation BEFREE In this report, we present the case of a 5-year-old female with GBM and CMMRD due to an <i>MSH6</i> homozygous c.1883G>A mutation, who continues to experience an exceptional and durable response (9 months) to the immune checkpoint inhibitor (ICPI) nivolumab. 30104292 2018
dbSNP: rs1800932
rs1800932
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Concurrent reduction of three MMR genes namely hMLH1, hMSH6 and hMSH2 (34-85%, P<0.05) was observed in prostate cancer tissues. hMSH6 polymorphism rs1800932(Pro92Pro) conferred a borderline protection in cancer patients (OR = 0.33, 95% CI = 0.15-0.75). 25938433 2015
dbSNP: rs1800932
rs1800932
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Concurrent reduction of three MMR genes namely hMLH1, hMSH6 and hMSH2 (34-85%, P<0.05) was observed in prostate cancer tissues. hMSH6 polymorphism rs1800932(Pro92Pro) conferred a borderline protection in cancer patients (OR = 0.33, 95% CI = 0.15-0.75). 25938433 2015
dbSNP: rs730881791
rs730881791
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE None of these tumors showed immunohistochemical staining suggestive of the IDH1 R132H mutation. 25648859 2015
dbSNP: rs768299607
rs768299607
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C0334108
Disease:
Multiple polyps
0.010 GeneticVariation BEFREE We examined 1188 familial CRC and polyposis index patients for POLE p.(Leu424Val) and POLD1 p.(Ser478Asn) variants using competitive allele-specific PCR. 25370038 2015
dbSNP: rs786201042
rs786201042
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C4552100
Disease:
Lynch Syndrome
0.010 GeneticVariation BEFREE We identified an MSH6 mutation (c.10C>T, p.Gln4*) causing Lynch syndrome (LS) in 11 French Canadian (FC) families from the Canadian province of Quebec. 25318681 2015
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: 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
dbSNP: rs1042821
rs1042821
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1306459
Disease:
Primary malignant neoplasm
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: rs1064793184
rs1064793184
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
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