Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.

ABSTRACT:

Background

It is often assumed any cancer in a germline BRCA1 or BRCA2 (collectively termed BRCA) mutation carrier was caused by that mutation. It is also often assumed the occurrence of breast or ovarian cancer in an individual with a variant of uncertain significance (VUS) suggests the VUS is pathogenic. These assumptions have profound management implications for cancer patients and healthy individuals.

Methods

We compared the frequency of BRCA mutations, allele loss, and Signature 3 in 7632 individuals with 28 cancers and 1000 population controls. Because only increased frequency was the focus of the study, all statistical tests were one-sided.

Results

Individuals with breast or ovarian cancer had increased germline BRCA pathogenic mutation frequencie

SUBMITTER: Yost S 

PROVIDER: S-EPMC6649772 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature