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 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A cohort analysis of men with a family history of BRCA1/2 and Lynch mutations for prostate cancer. 27456091

2016
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes. 24689082

2014
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein. 23621914

2013
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population. 25318681

2015
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients. 16736289

2006
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. 28466842

2017
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728

2016
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation 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 GeneticVariation CLINVAR Longitudinal analysis of treatment-induced genomic alterations in gliomas. 28153049

2017
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614

2012
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Massively Parallel Sequencing-Based Clonality Analysis of Synchronous Endometrioid Endometrial and Ovarian Carcinomas. 26832770

2016
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation 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 Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009

2007
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490

2013
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR MSH6 mutation in Muir-Torre syndrome: could this be a rare finding? 17199584

2007
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients. 20007843

2010
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. 19459153

2009
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698

2012
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Identification of germline genetic mutations in patients with pancreatic cancer. 26440929

2015
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394

2013
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. 16418736

2006
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014