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Cancer Research and Treatment > Accepted Articles
doi: https://doi.org/10.4143/crt.2020.557    [Accepted]
Germline and Somatic BRCA1/2 Gene Mutational Status and Clinical Outcomes in Epithelial Peritoneal, Ovarian, and Fallopian Tube Cancer: Over a Decade of Experience in a Single Institution in Korea
Se Ik Kim, Maria Lee, Hee Seung Kim, Hyun Hoon Chung, Jae-Weon Kim, Noh Hyun Park, Yong-Sang Song
Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, Korea
Correspondence  Maria Lee ,Tel: 82-2-2072-2842, Fax: 82-2-762-3599, Email: marialeemd@gmail.com
Received: June 8, 2020;  Accepted: July 25, 2020.  Published online: July 27, 2020.
ABSTRACT
Purpose
To present a single institutional experience with BRCA1/2 gene tests and the effects of pathogenic mutations in epithelial peritoneal, ovarian, and fallopian tube cancer (POFTC) on survival outcomes.
Materials and Methods
We identified patients with epithelial POFTCs who underwent BRCA1/2 gene testing by either germline or somatic methods between March 2007 and March 2020. Based on the BRCA1/2 test results, patients were divided into BRCA mutation and wild-type groups, followed by comparisons of clinicopathologic characteristics and survival outcomes after primary treatment.
Results
The annual number of POFTC patients who received BRCA1/2 gene tests increased gradually. In total, 511 patients were included and BRCA1/2 mutations were observed in 143 (28.0%). Among 57 patients who received both germline and somatic tests, three (5.3%) showed discordant results from the two tests. Overall, no differences in progression-free survival (PFS; p=0.467) and overall survival (p=0.641) were observed between the BRCA mutation and wild-type groups; however, multivariate analyses identified BRCA1/2 mutation as an independent favorable prognostic factor for PFS (adjusted HR, 0.765; 95% CI, 0.593-0.987; p=0.040). In 389 patients with FIGO stage III-IV, different results were shown depending on primary treatment strategy: while BRCA1/2 mutation significantly improved PFS in the subgroup of neoadjuvant chemotherapy (adjusted HR, 0.619; 95% CI, 0.385-0.995; p=0.048), it did not affect patient PFS in the subgroup of primary debulking surgery (adjusted HR, 0.759; 95% CI, 0.530-1.089; p=0.135).
Conclusion
BRCA1/2 mutations are frequently observed in patients with epithelial POFTCs, and such patients showed better PFS than did those harboring wild-type BRCA1/2.
Key words: Genital neoplasms, Female, Ovarian neoplasms, Germline test, Somatic test, BRCA1/2 mutation, Clinical outcome, Survival outcome
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