Germline variants and somatic mutation signatures of breast cancer across populations of African and European ancestry in the US and Nigeria.

ABSTRACT: Somatic mutation signatures may represent footprints of genetic and environmental exposures that cause different cancer. Few studies have comprehensively examined their association with germline variants, and none in an indigenous African population. SomaticSignatures was employed to extract mutation signatures based on whole-genome or whole-exome sequencing data from female patients with breast cancer (TCGA, training set, n = 1,011; Nigerian samples, validation set, n = 170), and to estimate contributions of signatures in each sample. Association between somatic signatures and common single nucleotide polymorphisms (SNPs) or rare deleterious variants were examined using linear regression. Nine stable signatures were inferred, and four signatures (APOBEC C>T, APOBEC C>G, aging and homologo

SUBMITTER: Wang S 

PROVIDER: S-EPMC6851589 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature