The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study

Abstract

The primary aim of this study was to estimate the prevalence of BRCA1/2 mutations among familial breast cancer (BC) patients in Korea. We analyzed 775 familial BC patients who were enrolled in the Korean Hereditary Breast Cancer (KOHBRA) study and treated at 36 institutions between May 2007 and May 2010. Patients with familial BC were defined as BC patients with family histories of BC or ovarian cancer (OC) in any relatives. All probands received genetic counseling and BRCA genetic testing was performed after obtaining informed consent. The mean age of BC diagnosis was 43.6 years. The numbers of probands with family histories of BC only and OC only were 682 and 93, respectively. The overall prevalence of the BRCA mutation among familial BC patients was 21.7 % (BRCA1 9.3 % and BRCA2 12.4 %). Subgroup analyses observed prevalences of the BRCA mutation as follows: 19.6 % among patients with BC family history only (BRCA1 7.6 % and BRCA2 12.0 %) and 36.6 % among patients with OC family history only (BRCA1 21.5 % and BRCA2 15.1 %). Most of the subgroups satisfied the 10 % probability criteria to undergo BRCA testing. However, the prevalence of the BRCA mutations among subgroups that had 2 BC patients in a family with both age at diagnosis of more than 50 years old did not reach the 10 % criteria (4.1 %). Korean familial BC patients are good candidates for BRCA testing even when they have family histories of single breast cancers. However, proband age at diagnosis should be carefully considered when selecting patients for testing.

Association betweenBRCAMutation Status, Pathological Findings, and Magnetic Resonance Imaging Features in Patients with Breast Cancer at Risk for the Mutation

“…The prevalence of BRCA mutations was comparable to recently reported studies [19,20]. The relationships between genetic subtypes, MRI, and pathological findings were examined.…”

Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients

“…The prevalence of germline BRCA1/2 variants shows a large variation across different ethnicities, ranging from 6.5% to 25.0% in BC and from 12.1% to 29% in OC (Han et al, ; Kim et al, ; Robson et al, ; Weitzel et al, ). Due to remarkable advances in next‐generation sequencing (NGS) technologies (Rainville & Rana, ), it is now possible to investigate the prevalence of different BRCA1/2 variants in patients of distinct ethnicities, as well as their clinical significance (Sun et al, ; Wu et al, ).…”

Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation

“…Approximately 8.6-21.7 % of Korean patients with highrisk breast cancer have BRCA1/2 mutations [23,27,28]. Previous studies have shown that the frequency of BRCA1/ 2 mutations among Korean patients with familial breast cancer was lower than that in Western populations [23].…”