Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome. 24933100 2014
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years. 22306203 2012
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2014
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. 23729658 2013
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR [Constitutional mismatch repair deficiency syndrome]. 26200421 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC. 17718861 2007
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Feasibility of screening for Lynch syndrome among patients with colorectal cancer. 18809606 2008
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group LHGDN A new interphase fluorescence in situ hybridization approach for genomic rearrangements involving MLH1 and MSH6 in hereditary nonpolyposis colorectal cancer-suspected mutation-negative patients. 17498565 2007
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein. 23621914 2013
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379 2013
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. 21155762 2011
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. 18269114 2008
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. 19851887 2010
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group LHGDN A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694 2008
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. 28531214 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412 2010
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group LHGDN Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. 15571801 2004
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 GeneticVariation group LHGDN Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome. 17653898 2007