Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.

ABSTRACT:

Purpose

Next-generation sequencing (NGS) allows simultaneous sequencing of multiple cancer susceptibility genes and may represent a more efficient and less expensive approach than sequential testing. We assessed the frequency of germline mutations in individuals with epithelial ovarian cancer (EOC), using multi-gene panels and NGS.

Materials and methods

Patients with EOC (n=117) with/without a family history of breast or ovarian cancer were recruited consecutively, from March 2016 toDecember 2016.GermlineDNAwas sequenced using 35-gene NGS panel, in order to identify mutations. Upon the detection of a genetic alteration using the panel, results were cross-validated using direct sequencing.

Results

Thirty-eight patients (32.5%) had 39 pathogenic or likely pathogenic mut

SUBMITTER: Eoh KJ 

PROVIDER: S-EPMC6056949 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature