Fig. 5

Literature review of genes associated with the prognostic germline variants and mechanisms by which prognostic germline variants may exert their effects. a The cancer-related functions of genes associated with the prognostic germline variants are quite diverse. b Many of the genes associated with the variants have previously been reported to be tumor suppressor genes or oncogenes. We categorized genes as tumor suppressor genes or oncogenes based on phenotypes reported in the literature, even if the exact mechanism through which the genes act have not yet been determined. c Although many of the variants have been studied in the field, there are many genes that have not yet been studied in the context of human disease and therefore may warrant investigation by the field. d Four of the genes associated with prognostic germline variants are in previously reported cancer driver genes. e Some of the prognostic germline variants cause dramatic amino acid changes and may disrupt well-characterized protein domains. f Some of the prognostic germline variants likely act as expression quantitative trait loci in cis (cis eQTLs) and the expression of these genes are predictive of patient outcome. We found three of these germline variants to also be eQTLs in the genotype tissue expression (GTEx) database in the same tissue that the tumor was derived from. g Some of the prognostic germline variants have been reported to be associated with other diseases related to the tissue from which the tumor was derived