Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Cancer
0.340 GeneticVariation disease BEFREE The purpose of this article is to provide a review of principles of genetic testing in prostate cancer and highlight the significance of clinical genetic testing of BRCA1/2 and other genes (CHEK2, HOXB13, PALB2), including Lynch syndrome genes (MLH1, MSH2, MSH6, and PMS2) in men with metastatic prostate cancer. 30681994 2019
Hereditary Nonpolyposis Colorectal Cancer
0.340 Biomarker disease CLINGEN Inherited DNA-Repair Defects in Colorectal Cancer. 29478780 2018
Hereditary Nonpolyposis Colorectal Cancer
0.340 Biomarker disease CLINGEN Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560 2017
Hereditary Nonpolyposis Colorectal Cancer
0.340 Biomarker disease CLINGEN A pathology atlas of the human cancer transcriptome. 28818916 2017
Hereditary Nonpolyposis Colorectal Cancer
0.340 Biomarker disease CLINGEN Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Hereditary Nonpolyposis Colorectal Cancer
0.340 Biomarker disease CLINGEN Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137 2016
Hereditary Nonpolyposis Colorectal Cancer
0.340 GeneticVariation disease BEFREE Among 159 patients with PAC who pursued genetic testing, 24 pathogenic mutations were identified (15.1%; 95% confidence interval, 9.5%-20.7%), including BRCA2 (13 mutations), BRCA1 (4 mutations), p16 (2 mutations), PALB2 (1 mutation), and Lynch syndrome (4 mutations). 26440929 2015
Hereditary Nonpolyposis Colorectal Cancer
0.340 Biomarker disease BEFREE Among 1046 study participants, 40 BRCA1/2-negative patients (3.8%; 95% CI, 2.8%-5.2%) harbored deleterious mutations, most commonly in moderate-risk breast and ovarian cancer genes (CHEK2, ATM, and PALB2) and Lynch syndrome genes. 26270727 2015
Hereditary Nonpolyposis Colorectal Cancer
0.340 Biomarker disease CLINGEN Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Hereditary Nonpolyposis Colorectal Cancer
0.340 Biomarker disease BEFREE Nevertheless, several other suppressor genes and oncogenes have been associated with hereditary ovarian cancers, including the mismatch repair (MMR) genes in Lynch syndrome, the tumor suppressor gene, TP53, in the Li-Fraumeni syndrome, and several other genes involved in the double-strand breaks repair system, such as CHEK2, RAD51, BRIP1, and PALB2. 26075229 2015
Hereditary Nonpolyposis Colorectal Cancer
0.340 Biomarker disease CLINGEN The Genotype-Tissue Expression (GTEx) project. 23715323 2013