Systematic discovery of germline cancer predisposition genes through the identification of somatic second hits

oleh: Solip Park, Fran Supek, Ben Lehner

Format: Article
Diterbitkan: Nature Portfolio 2018-07-01

Deskripsi

Inherited germline variants and somatic mutations contribute to cancer. Here, the authors present the statistical method ALFRED that tests the two-hit hypothesis of tumorigenesis and apply it to ~10,000 tumor exomes to identify rare germline variants that affect putative cancer predisposition genes, contributing substantially to cancer risk.