Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55778204
rs55778204
MSH2
0.700 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
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT Population-based molecular detection of hereditary nonpolyposis colorectal cancer. 10829038

2000
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170

2010
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT Functional analysis of HNPCC-related missense mutations in MSH2. 18822302

2008
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. 7874129

1994
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619

2008
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 25711197

2015
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes. 15870828

2005
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. 11598466

2001
dbSNP: rs55778204
rs55778204
MSH2
0.700 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
dbSNP: rs55778204
rs55778204
MSH2
0.700 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
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy. 15896463

2005
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT Functional analysis of human MutSalpha and MutSbeta complexes in yeast. 9889267

1999
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. 9419403

1997
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575

2003
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2. 10573010

2000
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614

2012
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT Gene symbol: hMSH2. Disease: Hereditary nonpolyposis colorectal cancer. 15046096

2004
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176

2002
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. 22167527

2012
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs55778204
rs55778204
MSH2
0.700 GeneticVariation UNIPROT Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 23535968

2013