Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 GeneticVariation CLINVAR Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. 30376427

2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer. 31101557

2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing. 28932927

2018
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome. 29575718

2018
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 GeneticVariation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Thyroid cancer in a patient with Lynch syndrome - case report and literature review. 28769567

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 GeneticVariation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome. 27606285

2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Frequent mismatch-repair defects link prostate cancer to Lynch syndrome. 27013479

2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 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: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 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: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers. 25110875

2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799

2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 GeneticVariation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799

2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Mismatch repair deficient-crypts in non-neoplastic colonic mucosa in Lynch syndrome: insights from an illustrative case. 25173403

2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. 26437257

2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Lynch Syndrome in patients with clear cell and endometrioid cancers of the ovary. 25093288

2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Muir-Torre syndrome: case report and molecular characterization. 24474082

2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. 25194673

2014