Introduction/Background*Ovarian cancer (OC) is the second most common gynecologic malignancy in developed countries and the third most common in developing countries. Approximately 13 to 15 percent of OC are attributable to heritable mutations in BRCA1 and 2.
This study aims to: I- assess median overall survival (mOS); II- characterize patients (pts) with OC assessed in a Family Risk Consultation (FRC).
Methodology This is a multicentric, descriptive and retrospective study of pts with OC followed at the FRC between 2007-2019 in two porruguese hospitals. Data was obtained from clinical files. Statistical analysis was performed using SPSS version 24® and OS using Kaplan-Meier method.
Result(s)*There were included 70 pts, of which 23% (n=16) had BRCA1/2 mutation: BRCA1 mutation occurred in 56% (n=9) of pts and BRCA2 in 44% (n=7). The Portuguese founder mutation - BRCA2 c.156-157insAlu was found in 2 pts.
Median age of BRCA mutated (mut) pts was 56 years (39-71) and BRCA wild type (wt) was 62 years (35-78).
The most frequent histology was Serous Carcinoma, in 86% (n = 60) of pts; most frequent stages were IIIC 46% (n = 32) and IV 17% (n = 12). Neoadjuvant chemotherapy (CT) was performed in 50% of pts (n = 35) and in 37% (n = 26) surgery was the first therapeutic approach followed by adjuvant CT. Eleven pts (16%) were treated with PARP inhibitors: 6 pts BRCAmut and 5 BRCAwt.
There was family history of cancer in 56% of BRCAmut and in 45% of BRCAwt.
mOS of BRCAmut was 13.81 years (CI 95% 10.36-17.26) and 5.54 years (CI 95% 4.21-6.88) to BRCAwt, with a significant difference between the two groups (X2=4.460;P=0.035).
Conclusion*Detection rate of BRCA1/2 mut was higher than described in literature. BRCAmut pts showed a statistically significant longer survival, when compared with BRCA wt pts. Characterization of these pts at a national level would be an opportunity to obtain real data from the Portuguese population.
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