Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes.

ABSTRACT: Along with traditional effects of aging and carcinogen exposure-inherited DNA variation has substantial contribution to cancer risk. Extraordinary progress made in analysis of common variation with GWAS methodology does not provide sufficient resolution to understand rare variation. To fulfill missing classification for rare germline variation we assembled dataset of whole exome sequences from>2000 patients (selected cases tested negative for candidate genes and unselected cases) with different types of cancers (breast cancer, colon cancer, and cutaneous and ocular melanomas) matched to more than 7000 non-cancer controls and analyzed germline variation in known cancer predisposing genes to identify common properties of disease-associated DNA variation and aid the future searches for new ca

SUBMITTER: Artomov M 

PROVIDER: S-EPMC6461796 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature