Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant.

ABSTRACT:

Purpose

We provide evidence for the reclassification of the BRCA1:c.5017_5019del variant by presenting the clinicopathological characteristics, clinical outcomes, and family history of breast or ovarian cancer in 17 patients with this variant.

Methods

This study included breast or ovarian cancer patients tested for BRCA1/2 genes between January 2008 and June 2020 at 10 medical centers in Korea. We retrospectively reviewed 17 probands from 15 families who had the BRCA1:c.5017_5019del variant according to the electronic medical records.

Results

We present 10 breast cancer patients and 7 ovarian cancer patients from 15 families identified as having BRCA1:c.5017_5019del and a total of 19 cases of breast cancer and 14 cases of ovarian cancer in

SUBMITTER: Bang YJ 

PROVIDER: S-EPMC9763777 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature