Prevalence and oncologic outcomes of BRCA1/2 mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea
10.5468/ogs.2019.62.6.411
- Author:
Jun Hyeong SEO
1
;
Soo Young JEONG
;
Myeong Seon KIM
;
Jun Hyeok KANG
;
E Sun PAIK
;
Yoo Young LEE
;
Tae Joong KIM
;
Jeong Won LEE
;
Byoung Gie KIM
;
Duk Soo BAE
;
Chel Hun CHOI
Author Information
1. Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. chelhun.choi@samsung.com
- Publication Type:Original Article
- Keywords:
BRCA1 gene;
BRCA2 gene;
Variant of unknown significance;
Epithelial ovarian cancer
- MeSH:
Asian Continental Ancestry Group;
Diagnosis;
Disease-Free Survival;
Genes, BRCA1;
Genes, BRCA2;
Genetic Testing;
Humans;
Korea;
Ovarian Neoplasms;
Prevalence
- From:Obstetrics & Gynecology Science
2019;62(6):411-419
- CountryRepublic of Korea
- Language:English
-
Abstract:
OBJECTIVE: BRCA mutational status is important in the management of ovarian cancer, but there is a lack of evidence supporting genetic testing in Asian populations. This study was performed to investigate the prevalence and prognostic outcomes of BRCA1/2 mutation and variant of unknown significance (VUS) in Korean patients diagnosed with epithelial ovarian cancer (EOC). METHODS: Among patients newly diagnosed with EOC between January 2007 and January 2017, those tested for germline BRCA1/2 mutation were studied, regardless of family history. Overall survival (OS) and progression-free survival (PFS) were compared between the patients with and without BRCA1/2 mutation and VUS. RESULTS: A total of 313 patients underwent BRCA testing: 88 patients had a BRCA1/2 mutation and 48 patients had a BRCA1/2 VUS (28.1% and 15.3%, respectively). There were no significant associations between BRCA1/2 mutation, BRCA1/2 wild-type, or BRCA1/2 VUS with age at diagnosis, histologic distribution, or residual disease status after primary cytoreductive surgery. BRCA1 mutation, including BRCA1 VUS, showed no difference in PFS or OS compared to BRCA1 wild-type. In contrast, BRCA2 mutation showed longer PFS than that of BRCA2 wild-type (P=0.04) or BRCA2 VUS (P=0.02). BRCA2 mutation, including BRCA2 VUS, did not show any difference in OS compared to BRCA2 wild-type. CONCLUSION: BRCA mutation and BRCA VUS had similar clinical characteristics and survival outcomes, except that BRCA2 mutation showed better PFS. The results of this study will help to understand the prognostic significance of BRCA mutation and VUS in Korean patients.
