Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. 9559627 1998
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 25711197 2015
Hereditary Non-Polyposis Colon Cancer Type 2
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
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT A human compound heterozygote for two MLH1 missense mutations. 9326924 1997
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535 2010
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer. 10413423 1999
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. 10375096 1999
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 11781295 2002
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing. 11839723 2002
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? 11726306 2001
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. 8993976 1997
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170 2010
Hereditary Non-Polyposis Colon Cancer Type 2
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. 25003300 2014
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 23535968 2013
Hereditary Non-Polyposis Colon Cancer Type 2
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
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. 9311737 1997
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. 11793442 2002
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773 1996
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. 8872463 1996
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain. 11748856 2001
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT Missense mutations in hMLH1 associated with colorectal cancer. 10598809 1999
Hereditary Non-Polyposis Colon Cancer Type 2
0.700 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721 2014