Abstract
Without prevention or screening options available, ovarian cancer is the most lethal malignancy of the female reproductive tract. High-grade serous ovarian cancer (HGSOC) is the most common histologic subtype, and the role of germline BRCA1/2 mutation in predisposition and prognosis is established. Given the targeted treatment opportunities with PARP inhibitors, a predictive role for BRCA1/2 mutation has emerged. Despite recommendations to provide BRCA1/2 testing to all women with histologically confirmed HGSOC, uniform implementation remains challenging. The opportunity to review and revise genetic screening and testing practices will identify opportunities, where universal adoption of BRCA1/2 mutation testing will impact and improve treatment of women with ovarian cancer. Improving education and awareness of genetic testing for women with cancer, as well as the broader general community, will help focus much-needed attention on opportunities to advance prevention and screening programs in ovarian cancer. This is imperative not only for women with cancer and those at risk of developing cancer but also for their first-degree relatives. In addition, BRCA1/2 testing may have direct implications for patients with other types of cancers, many of which are now being found to have BRCA1/2 involvement.
Highlights
Over the last four decades, there has been modest progress in the 5-year overall survival rates of women diagnosed with ovarian cancer, despite enhanced surgical efforts and introduction of doublet platinum/taxane chemotherapy
The lifetime risk of spontaneously developing and dying from ovarian cancer are 1.39 and 1.04%, respectively; the incidence of developing ovarian cancer significantly increases in carriers of germline mutations, mainly with either the breast cancer gene 1 (BRCA1) or 2 (BRCA2) genes
The preplanned retrospective analysis of outcomes by BRCA1/2 status in this study demonstrated that BRCA-mutated patients had better progression-free survival (PFS) with olaparib maintenance compared to those receiving placebo (11·2 versus 4·3 months; HR 0·18; p < 0·0001) [30]
Summary
Over the last four decades, there has been modest progress in the 5-year overall survival rates of women diagnosed with ovarian cancer, despite enhanced surgical efforts and introduction of doublet platinum/taxane chemotherapy. Further studies of associated hysterectomy are warranted in the population to provide appropriate family counseling guidance [55, 56] These discussions are important as data from nine countries have shown that preventative practices in women with germline BRCA1/2 mutations are varied despite guidelines [57]. Knowledge of germline BRCA1/2 status in women living with ovarian cancer directly impacts first-degree relatives (FDRs), who have a 50% probability of carrying the same mutation and are yet to be diagnosed, and could benefit from risk-reducing prevention strategies [58]. Cost-effective analyses conducted in parallel to the above study show that even when incorporating BRCA1/2 prevalence in family history negative individuals and genetic counseling costs, this specific population-based screening for germline BRCA1/2 mutations is highly cost-effective compared to family history-based approaches in Ashkenazi Jewish women aged 30 years and older [15]. Can potentially support specific population-based genetic testing, similar to the Ashkenazi Jewish population
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