Introduction/Background This study aimed to review multicenter real-world data for BRCA1/2 gene test and clinical outcomes in epithelial ovarian, peritoneal, fallopian tube cancer.
Methodology We reviewed the patients who underwent primary surgery and adjuvant treatment between January 2009 and December 2021 in Seoul, Yeouido, and Incheon St. Mary’s Hospital, College of Medicine, the Catholic University of Korea. The following data were retrospectively obtained for analysis: clinical factors such as patient age, levels of tumor markers (CA 125, CA 19–9); stage (International Federation of Gynecology and Obstetrics) at diagnosis, histopathology, and the results of BRCA1/2 gene test.
Results In total, 652 patients were evaluated and 237 patients (36.3%) underwent BRCA1/2 gene test. Among all patients who received BRCA1/2 gene test, BRAC1/2 mutations were noted in 62 patients (26.2%). In BRCA1/2 mutation group, 53 had high-grade serous ovarian cancer (HGSOC), and 9 had non-HGSOC consisting of endometrioid carcinoma (n=5), clear cell carcinoma (n=2), and mixed carcinoma (n=2). The portion of HGSOC in BRCA1/2 mutation group was significant higher than that in BRCA1/2 wild-type group (85.8% versus 61.0%, p<0.001). Progression free survival (PFS) of BRCA1/2 mutation group was significantly worse than that of BRCA1/2 wild-type group (30.4 versus 36.6 month, p=0.003). Overall survival of mutation group was better than that of wild-type group without significant differences (64.4 versus 48.8 month, p=0.807). The 26 patients in BRCA1/2 mutation group were treated by poly ADP ribose polymerase (PARP) inhibitor for maintenance therapy.
Conclusion BRCA1/2 mutations were reported in epithelial ovarian, peritoneal, and fallopian tube cancer. In contrast to other studies that reported better PFS in BRCA1/2 mutation group than in BRCA1/2 wild-type group, BRCA1/2 mutation group showed worse PFS in this study. Further studies are needed on the effect of the BRCA1/2 mutation on prognosis.
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