Germline BRCA1/2 testing practices in ovarian cancer: Current state and opportunities for new directions

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

“…At present, a variety of selection criteria are used to determine the eligibility for BRCA1/2 testing, including family history, age at onset, tumor clinicopathological features, and computational risk prediction models (BRCAPRO, BOADICEA, Myriad, and Manchester scoring system) ( 9 ). The clinical criteria for risk assessment, genetic counseling, and genetic testing for BRCA -related cancers in women are based on personal and family history factors that may contribute to the disease ( 10 ) and are related to the likelihood of testing positive above a common testing threshold of 10% ( 11 ).…”

Impact of Clinical Genetics Attendance at a Gynecologic Oncology Tumor Board on Referrals for Genetic Counseling and BRCA Mutation Testing

“…11Y13 However, these approaches may underestimate the probability of finding a BRCA mutation. 14 The results of a recent survey of 22 tertiary gynecologic oncology referral centers in 19 countries demonstrated a marked heterogeneity in the criteria for referral of patients with ovarian cancer for BRCA1/2 mutation testing. 14 Seventy-seven percent of centers surveyed refer patients based on family history, 55% refer based on histopathology, and referral of patients with ovarian cancer for BRCA mutation testing was routine practice in only 45% of centers.…”

Genetic Versus Epigenetic BRCA1 Silencing Pathways

“…32 This emphasizes the importance of germline testing of BRCA genes for all OC patients and the BRCA mutation carriers' family members, because the detection of BRCA mutation carriers may benefit both women who were already diagnosed with OC and their unaffected family members. 33 Particularly, we found that both GMB and HMB patients showed HGSOC in a significantly higher rate with respect to BWT patients. Regarding the serous histotype, Bai et al 34 also observed that it was highly predominant among hypermethylated patients (73%).…”