Ovarian Cancer and BRCA1/2 Testing: Opportunities to Improve Clinical Care and Disease Prevention

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.

Identifying patients with a history of ovarian cancer for referral for genetic counselling: non-randomised comparison of two case-finding strategies in primary care

“…Although the need for systematic efforts to identify patients with a history of epithelial ovarian cancer is widely supported in the literature, to the authors’ knowledge no studies addressing the effectiveness of case finding of these patients in primary care have been published previously. 9 – 12 The aforementioned suggestion that the GP is in a suitable position to identify and refer women with a history of ovarian cancer and that GPs are willing to take that role is confirmed by the study’s findings. 13 – 15 , 20 …”

Proteomics biomarkers for solid tumors: Current status and future prospects

“…Several polymerase chain reaction (PCR)‐ or microarray‐based gene expression tests have been already introduced to clinical practice (Table ). For instance, genetic testing for BRCA1/BRCA2 mutations is recommended for the risk assessment in women with ovarian cancer . Moreover, the Fluorescence In Situ Hybridization (FISH) testing for HER2 gene amplification became an essential part of the clinical evaluation of breast cancer patients and accurate HER2 results are critical in selecting the best treatment strategy (Table ) …”

“…For instance, genetic testing for BRCA1/ BRCA2 mutations is recommended for the risk assessment in women with ovarian cancer. 13 Moreover, the Fluorescence In Situ Hybridization (FISH) testing for HER2 gene amplification became an essential part of the clinical evaluation of breast cancer patients and accurate HER2 results are critical in selecting the best treatment strategy ( Table 2). 14 Several protein biomarkers are in use in clinical practice, some of them approved by the Food and Drug Administration (FDA), as further summarized in Table 2.…”

Multigene panel testing for hereditary breast cancer: An analysis of 70 BRCA-negative Turkish patients

“…Evaluation of hereditary breast cancer susceptibility genes in individuals enables early identification of individuals at risk and early prevention, especially the choice of preventive surgery. In addition, the importance of genetic testing in the treatment of pharmaceutical agents such as olaparib increases in recent years 7 . The National Comprehensive Cancer Network (NCCN) has published a guide on who should analyze for BRCA1/BRCA2, but there is no precise algorithm and guide for other genes yet 8 .…”