Purpose: The treatment of ovarian cancer continues to pose a challenge especially through the development of platinum-resistant disease and still has the highest mortality rate among gynecologic cancers. Patients are usually diagnosed with advanced stages where complete cytoreduction and standard platinum-based chemotherapy are the mainstay of treatment. Advances into the molecular underpinnings of DNA damage repair highlighted BRCA 1/2 and other related genes as key regulators of platinum sensitivity. Our study characterizes clinical features and outcomes associated with BRCA mutations in a cohort of ovarian cancer patients.
Methods: Patient data from our Institute was retrospectively extracted for all patients that were tested for the presence of BRCA germline or somatic mutations through next generation sequencing between May 2016 and August 2018.
Results: Eighty-eight patients were included in the present analysis. Advanced FIGO stage IIIC-IV was common at presentation (71.6%), with 58% of patients undergoing primary debulking surgery. BRCA mutant cases represented 44% and were associated with a significantly higher frequency for complete pathologic response, first and second platinum sensitive relapse and a significantly longer overall survival for advanced stage cases treated with neoadjuvant chemotherapy. Mean age at presentation was significantly lower in the BRCA mutated (52 years) compared to BRCA wildtype patients (54.2 years, p=0.045).
Conclusions: Upfront knowledge of BRCA status is encouraged, given the recent advent of targeted therapies and for the decision regarding optimal sequence of available therapeutic strategies.