Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805 2017
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682 2011
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers. 18841495 2009
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia. 17348456 2007
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 17473388 2007
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668 2006
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. 16807412 2006
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. 16034045 2005
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes. 16181381 2005
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer. 15680406 2005
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours. 14574162 2003
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation. 12112654 2002
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176 2002
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. 12067992 2002
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients. 11772966 2002
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation 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
0.700 CausalMutation CLINVAR Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. 8872463 1996