Prevalence and oncologic outcomes of BRCA1/2 mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea
Obstetrics & Gynecology Science
;
: 411-419, 2019.
Article
in English
| WPRIM
| ID: wpr-760678
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Ovarian Neoplasms
/
Genetic Testing
/
Prevalence
/
Disease-Free Survival
/
Genes, BRCA1
/
Genes, BRCA2
/
Asian People
/
Diagnosis
/
Korea
Type of study:
Diagnostic study
/
Prevalence study
/
Prognostic study
/
Risk factors
Limits:
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Obstetrics & Gynecology Science
Year:
2019
Type:
Article
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