Tumor mutation burden forecasts outcome in ovarian cancer with BRCA1 or BRCA2 mutations.

ABSTRACT:

Background

Increased number of single nucleotide substitutions is seen in breast and ovarian cancer genomes carrying disease-associated mutations in BRCA1 or BRCA2. The significance of these genome-wide mutations is unknown. We hypothesize genome-wide mutation burden mirrors deficiencies in DNA repair and is associated with treatment outcome in ovarian cancer.

Methods and results

The total number of synonymous and non-synonymous exome mutations (Nmut), and the presence of germline or somatic mutation in BRCA1 or BRCA2 (mBRCA) were extracted from whole-exome sequences of high-grade serous ovarian cancers from The Cancer Genome Atlas (TCGA). Cox regression and Kaplan-Meier methods were used to correlate Nmut with chemotherapy response and outcome. Higher Nmut correlated with a

SUBMITTER: Birkbak NJ 

PROVIDER: S-EPMC3827141 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature