Somatic mutational profiles and germline polygenic risk scores in human cancer.

ABSTRACT:

Background

The mutational profile of cancer reflects the activity of the mutagenic processes which have been operative throughout the lineage of the cancer cell. These processes leave characteristic profiles of somatic mutations called mutational signatures. Mutational signatures, including single-base substitution (SBS) signatures, may reflect the effects of exogenous or endogenous exposures.

Methods

We used polygenic risk scores (PRS) to summarize common germline variation associated with cancer risk and other cancer-related traits and examined the association between somatic mutational profiles and germline PRS in 12 cancer types from The Cancer Genome Atlas. Somatic mutational profiles were constructed from whole-exome sequencing data of primary tumors. PRS were calculat

SUBMITTER: Liu Y 

PROVIDER: S-EPMC8832866 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature