Obstet Gynecol Sci.  2019 Nov;62(6):411-419. 10.5468/ogs.2019.62.6.411.

Prevalence and oncologic outcomes of BRCA1/2 mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea

• Seo JH
• Jeong SY
• Kim MS
• Kang JH
• Paik ES
• Lee YY
• Kim TJ
• Lee JW
• Kim BG
• Bae DS
• Choi CH

• KMID: 2462119
• DOI: http://doi.org/10.5468/ogs.2019.62.6.411

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.

Keyword

BRCA1 gene; BRCA2 gene; Variant of unknown significance; Epithelial ovarian cancer

MeSH Terms

Asian Continental Ancestry Group
Diagnosis
Disease-Free Survival
Genes, BRCA1
Genes, BRCA2
Genetic Testing
Humans
Korea*
Ovarian Neoplasms
Prevalence*

Figure

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  Fig. 1 Kaplan-Meier curves of progression-free survival (PFS) by BRCA1. VUS, variant of unknown significance; wt, wild type; mut, mutation.

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  Fig. 2 Kaplan-Meier curves of progression-free survival (PFS) by BRCA2. VUS, variant of unknown significance; wt, wild type; mut, mutation.

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