Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.

ABSTRACT:

Background

Whole-genome sequencing (WGS) is a powerful method for revealing the diversity and complexity of the somatic mutation burden of tumours. Here, we investigated the utility of tumour and matched germline WGS for understanding aetiology and treatment opportunities for high-risk individuals with familial breast cancer.

Patients and methods

We carried out WGS on 78 paired germline and tumour DNA samples from individuals carrying pathogenic variants in BRCA1 (n = 26) or BRCA2 (n = 22) or from non-carriers (non-BRCA1/2; n = 30).

Results

Matched germline/tumour WGS and somatic mutational signature analysis revealed patients with unreported, dual pathogenic germline variants in cancer risk genes (BRCA1/BRCA2; BRCA1/MUTYH). The strategy identified that 100% of tumour

SUBMITTER: Nones K 

PROVIDER: S-EPMC6637375 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature