Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

ABSTRACT:

Background

Multigene panels are routinely used to assess for predisposing germline mutations in families at high breast cancer risk. The number of variants of unknown significance thereby identified increases with the number of sequenced genes. We aimed to determine whether tumor sequencing can help refine the analysis of germline variants based on second somatic genetic events in the same gene.

Methods

Whole-exome sequencing (WES) was performed on whole blood DNA from 70 unrelated breast cancer patients referred for genetic testing and without a BRCA1, BRCA2, TP53, or CHEK2 mutation. Rare variants were retained in a list of 735 genes. WES was performed on matched tumor DNA to identify somatic second hits (copy number alterations (CNAs) or mutations) in the same genes. Disti

SUBMITTER: Van Marcke C 

PROVIDER: S-EPMC7161277 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature