BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.

ABSTRACT:

Objective

We performed small-scale mutation and large genomic rearrangement (LGR) analysis of BRCA1/2 in ovarian cancer patients to determine the prevalence and the characteristics of the mutations.

Methods

All ovarian cancer patients who visited a single institution between September 2015 and April 2017 were included. Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and long-range polymerase chain reaction (PCR) were performed to comprehensively study BRCA1/2. The genetic risk models BRCAPRO, Myriad, and BOADICEA were used to evaluate the mutation analysis.

Results

In total, 131 patients were enrolled. Of the 131 patients, Sanger sequencing identified 16 different BRCA1/2 small-scale mutations in 20 patients (15.3%). Tw

SUBMITTER: Kim DH 

PROVIDER: S-EPMC6189434 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature