Search Results

Bilateral risk-reducing oophorectomy (BRRO) is widely used for cancer risk reduction in women with BRCA1 and BRCA2 (BRCA1/2) mutations. BRRO significantly reduces breast cancer risk by approximately 50% and ovarian cancer risk by 85% to 95%, but it may be accompanied by menopausal symptoms, impaired quality of life, and accelerated bone loss. Therefore, decisions regarding the timing of BRRO, the risks and benefits of a simultaneous hysterectomy, and the use of hormone replacement therapy (HRT) must be made in concert with the patient and individualized to their circumstances. However, recent data demonstrate that HRT after BRRO in unaffected premenopausal women does not negate the breast cancer risk reduction that BRRO provides. This article reviews the studies regarding BRRO in BRCA1/2 mutation carriers, with particular focus on the use of HRT.

With the introduction of panel and direct-to-consumer testing, genetic testing has become commonplace in recent years, paving the way for both increased awareness around prevalent genetic cancer risks, and also an onslaught of misinformation. At the NCCN 2020 Virtual Annual Conference, Dr. Tuya Pal led a panel of experts in discussing the utility and difficulties associated with multigene testing, the emerging role of moderate-penetrance genes in defining risks for hereditary cancer, and the controversies associated with direct-to-consumer genetic testing services.

The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic or likely pathogenic variants associated with increased risk of breast, ovarian, and pancreatic cancer and recommended approaches to genetic testing/counseling and management strategies in individuals with these pathogenic or likely pathogenic variants. This manuscript focuses on cancer risk and risk management for BRCA-related breast/ovarian cancer syndrome and Li-Fraumeni syndrome. Carriers of a BRCA1/2 pathogenic or likely pathogenic variant have an excessive risk for both breast and ovarian cancer that warrants consideration of more intensive screening and preventive strategies. There is also evidence that risks of prostate cancer and pancreatic cancer are elevated in these carriers. Li-Fraumeni syndrome is a highly penetrant cancer syndrome associated with a high lifetime risk for cancer, including soft tissue sarcomas, osteosarcomas, premenopausal breast cancer, colon cancer, gastric cancer, adrenocortical carcinoma, and brain tumors.

The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic provide recommendations for genetic testing and counseling for hereditary cancer syndromes, and risk management recommendations for patients who are diagnosed with syndromes associated with an increased risk of these cancers. The NCCN panel meets at least annually to review comments, examine relevant new data, and reevaluate and update recommendations. These NCCN Guidelines Insights summarize the panel’s discussion and most recent recommendations regarding criteria for high-penetrance genes associated with breast and ovarian cancer beyond BRCA1/2, pancreas screening and genes associated with pancreatic cancer, genetic testing for the purpose of systemic therapy decision-making, and testing for people with Ashkenazi Jewish ancestry.