Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE MSH6 gene pathogenic variant identified in familial pancreatic cancer in the absence of colon cancer. 31851094

2020

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 AlteredExpression BEFREE Immunostaining showed that the colon cancer was positive for CDX2, SATB2, had a loss of PMS2 and intact expression of MLH1, MSH2 and MSH6, negative for AMACR, while the prostate cancer was positive for AMACR, had intact expression of PMS2, MLH1, MSH2 and MSH6, and negative for CDX2 and SATB2. 30061258

2018

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker BEFREE The expression of hMLH1, hMSH2, hMSH6, and hPMS2 in the resected tumor tissues was examined by SP immunohistochemistry, in order to analyze the relationship between defective DNA MMR (dMMR) and the clinico-pathological features and prognosis of colon cancer. 27706583

2016

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker BEFREE This study included 1966 (56% female) carriers of an MMR gene mutation (719 MLH1, 931 MSH2, 211 MSH6 and 105 PMS2) who were recruited from the USA, Canada, Australia and New Zealand into the Colon Cancer Family Registry between 1997 and 2012. 27063605

2016

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Using data from the Colon Cancer Family Registry, we compared the proportion of childhood cancers (diagnosed before 18 years of age) in the first-, second-, and third-degree relatives of 781 probands with a pathogenic mutation in one of the MMR genes; MLH1 (n = 275), MSH2 (n = 342), MSH6 (n = 99), or PMS2 (n = 55) or in EPCAM (n = 10) (Lynch syndrome families), with that of 5073 probands with MMR-deficient colorectal cancer (non-Lynch syndrome families). 25963852

2015

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant condition caused by a germline mutation in 1 of 4 DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6, or PMS2. 24051481

2014

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker BEFREE Here, we take a step toward an analogous system for the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) that confer colon cancer susceptibility in Lynch syndrome by calibrating in silico tools to estimate prior probabilities of pathogenicity for MMR gene missense substitutions. 22949387

2013

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE We obtained data from the Colon Cancer Family Registry for a cohort of 127 women who had a diagnosis of endometrial cancer and who carried a mutation in one of four MMR genes (30 carried a mutation in MLH1, 72 in MSH2, 22 in MSH6, and 3 in PMS2). 23385444

2013

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 families enrolled in the Colon Cancer Family Registry, were genotyped for the single nucleotide polymorphisms (SNPs): rs16892766 (8q23.3), rs6983267 (8q24.21), rs719725 (9p24), rs10795668 (10p14), rs3802842 (11q23.1), rs4444235 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.1) and rs961253 (20p12.3). 23434150

2013

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker BEFREE This retrospective cohort study comprised 79 carriers of germline mutation in a MMR gene (18 MLH1, 55 MSH2, 4 MSH6, and 2 PMS2) from the Colon Cancer Family Registry who had had a proctectomy for index rectal cancer. 23358792

2013

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker BEFREE Risk of metachronous CRC was estimated for 382 MMR gene mutation carriers (172 MLH1, 167 MSH2, 23 MSH6 and 20 PMS2) from the Colon Cancer Family Registry, who had surgery for their first colon cancer, using retrospective cohort analysis. 21193451

2011

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker BEFREE Immunohistochemical analysis of the patient's colon carcinoma and his GBM both revealed loss of the mismatch repair proteins mutS homolog 2 (MSH2) and mutS homolog 6 (MSH6). 21288634

2011

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker BEFREE We estimated the association between BMI at age 18-20 years and endometrial cancer risk for mismatch repair gene mutation carriers and, as a comparison group, noncarriers using 601 female carriers of a germline mutation in a mismatch repair gene (245 MLH1, 299 MSH2, 38 MSH6, and 19 PMS2) and 533 female noncarriers from the Colon Cancer Family Registry using a weighted Cox proportional hazards regression. 21422863

2011

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 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

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE The MSH6 39Glu allele was associated with increased risk of colon cancer among men (Gly/Glu or Glu/Glu vs Gly/Gly, OR 1.27; 95% CI 1.04 to 1.54). 18523027

2009

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE The C-allele of the IVS4-101G>C polymorphism in hMSH6 was associated with an increased risk of colon cancer (OR 1.34; 95% CI 1.03-1.74). 18851982

2008

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Effect of exogenous MSH6 and POLD1 expression on the mutation rate of the HPRT locus in a human colon cancer cell line with mutator phenotype, DLD-1. 14767555

2004

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE To evaluate this possibility, we treated three colon cancer cell lines that are either proficient in mismatch repair (MMR) [SW480 (MMR wild type)] or deficient in MMR [HCT116 (hMLH1 mutant) and HCT15 (hMSH6 mutant)] with three cycles of BG+BCNU. 12036916

2002

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 AlteredExpression BEFREE Expression of the hMSH6 mismatch-repair protein in colon cancer and HeLa cells. 11971198

2002

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Three human colon cancer cell lines were used, SW480 cells, which are wild-type for mismatch repair genes and have mutated p53, HCT116 cells, which are mutant in hMLH1 and wild-type for p53, and HCT15 cells, which are mutant in hMSH6 and mutant in p53 as well. 12231545

2002

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE We conclude that germ-line involvement of MSH6 and MSH3 is rare and that other genes are likely to account for a majority of MSH2-, MLH1-mutation negative families with nonpolypotic colon cancer. 11245474

2001

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 AlteredExpression BEFREE Effect of hMSH6 cDNA expression on the phenotype of mismatch repair-deficient colon cancer cell line HCT15. 10190549

1999

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE We have also recently shown the frequent presence of frameshift mutations in (A)8 and (C)8 tracts within the hMSH3 and hMSH6 DNA mismatch repair genes in sporadic colon cancer of the MMP. 9500462

1998