rs63751207, MSH2

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455 2015
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 25711197 2015
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721 2014
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 24310308 2014
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. 25070057 2014
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. 25003300 2014
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. 23408351 2013
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 23535968 2013
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. 11598466 2001
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 CausalMutation CLINVAR
Hereditary Nonpolyposis Colorectal Cancer
0.710 GeneticVariation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698 2012
Hereditary Nonpolyposis Colorectal Cancer
0.710 GeneticVariation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
Hereditary Nonpolyposis Colorectal Cancer
0.710 GeneticVariation CLINVAR Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. 17720936 2007
Hereditary Nonpolyposis Colorectal Cancer
0.710 GeneticVariation CLINVAR In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. 16995940 2006
Hereditary Nonpolyposis Colorectal Cancer
0.710 GeneticVariation CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733 2005
Hereditary Nonpolyposis Colorectal Cancer
0.710 GeneticVariation CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030 2004
Hereditary Nonpolyposis Colorectal Cancer
0.710 GeneticVariation CLINVAR HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176 2002
Hereditary Nonpolyposis Colorectal Cancer
0.710 GeneticVariation CLINVAR Mutator phenotypes of common polymorphisms and missense mutations in MSH2. 10469597 1999
Hereditary Nonpolyposis Colorectal Cancer
0.710 GeneticVariation CLINVAR Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. 9774676 1998
Hereditary Nonpolyposis Colorectal Cancer
0.710 GeneticVariation CLINVAR Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines. 8521394 1995