Genome instability in blood cells of a BRCA1+ breast cancer family.

ABSTRACT:

Background

BRCA1 plays an essential role in maintaining genome stability. Inherited BRCA1 germline mutation (BRCA1+) is a determined genetic predisposition leading to high risk of breast cancer. While BRCA1+ induces breast cancer by causing genome instability, most of the knowledge is known about somatic genome instability in breast cancer cells but not germline genome instability.

Methods

Using the exome-sequencing method, we analyzed the genomes of blood cells in a typical BRCA1+ breast cancer family with an exon 13-duplicated founder mutation, including six breast cancer-affected and two breast cancer unaffected members.

Results

We identified 23 deleterious mutations in the breast cancer-affected family members, which are absent in the unaffected members. Multiple

SUBMITTER: Xiao F 

PROVIDER: S-EPMC4031489 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature