Introduction/Background*Germline mutations in the BRCA1 and BRCA2 genes (BRCAg) are a known risk factor for development of breast and epithelial ovarian cancer (OC). We describe the frequency of BRCAg carriers, the clinical features and survival in Norwegian OC patients.
Methodology This is a prospective cohort study including OC patients at the Norwegian Radium Hospital (covering 50% of the Norwegian population) from Jan 1st 2014 to Dec 31st 2019. Included are the patients which accepted BRCAg test after giving informed consent. DNA was isolated from peripheral blood, and mutation analyses performed with Sanger sequencing and multiplex ligation probe amplification. Data on family history, BRCAg test results was registered and data on clinical features and histopathology was collected from the department’s quality database. All statistical analyses were performed using the Stata (Stata/MP 17.1) program, Chi-square test for independence of groups and Kaplan-Meier survival analysis.
Result(s)*Altogether 73% of OC patients accepted BRCAg test and were included in the study (n=1049), 83 (7.9%) had a BRCAg, of which 46 (4.4%) had mutation in BRCA1 and 37 (3.5%) in BRCA2. Assuming that the BRCAg frequency is not higher among the not tested compared to the tested and lowest 0, we estimate 5.7-7.9% BRCAg frequency in our OC population.
The patients with BRCAg were younger at diagnosis (mean age 59.9 y vs. 63.3 y p=0.005), had more often high-grade serous histology (95% vs. 67% p<0,0001), had more advanced disease (FIGO stage III -IV) at the time of diagnosis (83% vs. 71% p=0.003) and more often received neoadjuvant chemotherapy (28% vs. 15% p 0.04) compared to non-mutation carriers. Patients with FIGO stage III-IV and BRCAg had a better overall survival compared to non-mutation carriers (median OS 76.4 months vs. 42.1 months p=0.03, figure 1). However, the difference in progression free survival between the two groups was non- significant (median PFS 31.1 months vs. 30.3 months p=0.87).
Conclusion*In our study population the BRCAg frequency was 7, 9% and BRCAg was found to be a significant prognostic factor.
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