Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients. 22581703

2012
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. 16885385

2006
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. 24323032

2014
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers. 16813607

2006
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Structure of the human MutSalpha DNA lesion recognition complex. 17531815

2007
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens. 28176205

2017
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. 24323032

2014
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR MSH6 germline mutations are rare in colorectal cancer families. 14520694

2003
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Teenage colorectal polyposis and cancer may be caused by constitutional mismatch repair deficiency (CMMRD). 27723366

2016
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue. 14974087

2004
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients. 24040339

2013
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915

2009
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. 21056691

2011
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome. 16283884

2005
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer. 25307252

2015
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. 11709755

2002
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Dominant negative mutator mutations in the mutS gene of Escherichia coli. 8071216

1994
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. 29348823

2017
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809

2015
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes. 16203774

2005
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Population-based molecular screening for Lynch syndrome: implications for personalized medicine. 23733757

2013
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR HNPCC: six new pathogenic mutations. 15217520

2004
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer. 25255306

2014
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer. 23541221

2013