Integrative genomic analysis identifies associations of molecular alterations to APOBEC and BRCA1/2 mutational signatures in breast cancer.

ABSTRACT:

Background

The observed mutations in cancer are the result of ~30 mutational processes, which stamp particular mutational signatures (MS). Nevertheless, it is still not clear which genomic alterations correlate to several MS. Here, a method to analyze associations of genomic data with MS is presented and applied to The Cancer Genome Atlas breast cancer data revealing promising associations.

Methods

The MS were discretized into clusters whose extremes were statistically associated with mutations, copy number, and gene expression data.

Results

Known associations for apolipoprotein B editing complex (APOBEC) and for BRCA1 and BRCA2 support the proposal. For BRCA1/2, mutations in ARAP3, three focal deletions, and one amplification were detected. Around 50 mutated genes fo

SUBMITTER: Trevino V 

PROVIDER: S-EPMC6687632 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature