Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation 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 Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome. 24933100 2014
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR MSH6 mutation in Muir-Torre syndrome: could this be a rare finding? 17199584 2007
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Impact of an immunohistochemistry-based universal screening protocol for Lynch syndrome in endometrial cancer on genetic counseling and testing. 25617771 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer. 9929971 1999
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 CausalMutation group CLINVAR Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum. 19130300 2009
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569 2010
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. 15098177 2004
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Identification of germline genetic mutations in patients with pancreatic cancer. 26440929 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915 2009
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 CausalMutation group CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. 28195393 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189 2014
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473 2012
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. 26687385 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer. 16360201 2006
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. 16034045 2005
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. 12732731 2003
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome. 12019211 2002
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Mutation spectrum in HNPCC in the Israeli population. 18389388 2008
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 CausalMutation group CLINVAR Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait. 16525781 2006