Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer. 9506527 1998
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer. 11385712 2001
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412 2010
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. 22883484 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer. 17505997 2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease. 20682701 2010
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Microsatellite Instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer. 11304573 2001
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group 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: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group CLINVAR Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases. 10995807 2000
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene. 15222003 2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group CLINVAR Mismatch repair gene mutations in Chinese HNPCC patients. 18931482 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Cancer risk in 348 French MSH2 or MLH1 gene carriers. 12624141 2003
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations. 17601929 2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families. 23170986 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186 2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome. 27606285 2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799 2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Mismatch repair gene mutations in Chinese HNPCC patients. 18931482 2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088 2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Clinical features and mismatch repair gene mutation screening in Chinese patients with hereditary nonpolyposis colorectal carcinoma. 15309712 2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 GeneticVariation group CLINVAR Thyroid cancer in a patient with Lynch syndrome - case report and literature review. 28769567 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR The mutational spectrum of Lynch syndrome in cyprus. 25133505 2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.900 CausalMutation group CLINVAR High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry. 25117503 2014