A comprehensive analysis of clinical and polygenic germline influences on somatic mutational burden

We investigated how genetic and non-genetic host characteristics influence the accumulation of both somatic point mutations and copy number variants. We found fine-scale genetic ancestry and polygenic risk scores were associated with tumor mutational burden. We additionally found that many of these associations impacted overall survival.

Source: The American Journal of Human Genetics - January 10, 2024 Category: Genetics & Stem Cells Authors: Kodi Taraszka, Stefan Groha, David King, Robert Tell, Kevin White, Elad Ziv, Noah Zaitlen, Alexander Gusev Tags: Article Source Type: research