Introduction/Background Knowing BRCA mutation status in ovarian cancer patients is crucial for treatment decisions. Guidelines currently recommend testing of BRCA germline mutations in patients with high-grade serous ovarian cancer (HGSOC), although the implementation in practice is not uniform. The full spectrum of BRCA mutations in ovarian cancer in Romania was not previously characterized.
Methodology This was an observational, retrospective medical chart review that aimed to describe prevalence of BRCA mutations in HGSOC patients. This study was performed in multiple centers participating in the National BRCA1/2 Testing Program started in 2016. The study collected data from patients included in the Program between 04/2016–04/2017. In total, 233 platinum-sensitive HGSOC patients were included in the full analysis set (FAS). Descriptive statistical methods were applied, using R language version 3.3.1.
Results Of the 233 patients, 68 (29.2%) patients carried pathogenic BRCA1 mutations (BRCA1m+), 15 (6.4%) pathogenic BRCA2 mutations and 8 (3.4%) variants of unknown significance. The most prevalent pathogenic BRCA1 mutation was c.5266dupC (5382insC) reported for 21/68 patients, followed by c.3607C>T reported in 10/68 patients and two other mutations, c.181T>G and c.4035del A, each found in 7/68 patients. The most prevalent pathogenic BRCA2 mutation was c.9371A>T reported in 6/15 patients. In FAS, the mean age of patients at the time of HGSOC diagnosis was 53.6 years (50.4 in BRCA1m+ and 54.8 in BRCA2m+ patients) with a mean time from diagnosis to BRCA1/2 testing of 3.1 years (2.8 years in both groups with pathogenic mutations). Most patients had grade 3 advanced disease at diagnosis (∼80% in FAS and BRCAm+ groups).
Conclusion To our knowledge, this is the first comprehensive study of the BRCA1/2 mutation spectrum in HGSOC patients from Romania. These results add to and overlap with data recently provided by a study performed in high-risk breast cancer patients.
Disclosure Funding: AstraZeneca. Stanculeanu DL - Advisory Board/Consultancy: BMS, Ipsen, Eli Lilly, Merck, Pfizer, Roche, Sanofi; Lecture fees: Novartis, Pfizer, Roche, Teva; Educational grants: BMS, Ipsen; Research support: Amgen, AstraZeneca, Pfizer, Sandoz; Travel grants: Astellas, AstraZeneca, BMS, Ipsen, Merck, Pfizer, Roche, Sanofi. Median DM - Advisory role: Eli Lilly, Novartis, Roche, Pfizer; Lecture fees: AstraZeneca, Roche, Sandoz, Teva; Educational grants: AstraZeneca, Pfizer, Roche; Institutional grants: AstraZeneca, Boehringer Ingelheim, Eli Lilly, Novartis, Roche, Samsung Bioepis, Tesaro; Research grants: Roche; Travel grants: A&D Pharma, Alvogen, Genekor. Cebotaru CL- Advisory Board: Boehringer Ingelheim, Novartis, Pfizer; Lecture fees: Astellas, AstraZeneca, BMS, Bayer, Ipsen, Janssen; Educational grants: AstraZeneca; Travel grants: Alvogen, Boehringer Ingelheim, Merck Serono. Teodorescu G, Voinea C: AstraZeneca employees.
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