Ancestry-specific predisposing germline variants in cancer.

ABSTRACT:

Background

Distinct prevalence of inherited genetic predisposition may partially explain the difference of cancer risks across ancestries. Ancestry-specific analyses of germline genomes are required to inform cancer genetic risk and prognosis of diverse populations.

Methods

We conducted analyses using germline and somatic sequencing data generated by The Cancer Genome Atlas. Collapsing pathogenic and likely pathogenic variants to cancer predisposition genes (CPG), we analyzed the association between CPGs and cancer types within ancestral groups. We also identified the predisposition-associated two-hit events and gene expression effects in tumors.

Results

Genetic ancestry analysis classified the cohort of 9899 cancer cases into individuals of primarily European (N = 81

SUBMITTER: Oak N 

PROVIDER: S-EPMC7260738 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature