From the Guidelines
Individuals with a BRCA2 mutation should follow enhanced cancer screening and prevention strategies, including annual breast MRI starting at age 25, adding annual mammograms at age 30, and considering risk-reducing bilateral mastectomy and bilateral salpingo-oophorectomy between ages 40-45. For women, breast cancer surveillance should begin at age 25 with annual breast MRI, adding annual mammograms at age 30, as recommended by the NCCN guidelines 1. Clinical breast exams are recommended every 6-12 months beginning at age 25. Risk-reducing bilateral mastectomy can be considered, which decreases breast cancer risk by approximately 90% 1. For ovarian cancer prevention, risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes) is recommended between ages 40-45 after childbearing is complete, which reduces ovarian cancer risk by 80-90% and may also decrease breast cancer risk 1. Men with BRCA2 mutations should begin prostate cancer screening at age 40 with annual PSA testing and digital rectal exams. Both men and women should consider pancreatic cancer screening starting at age 50 or earlier if there is a family history, typically with endoscopic ultrasound or MRI. Melanoma screening through annual dermatology exams is also recommended. Lifestyle modifications for all BRCA2 carriers include maintaining a healthy weight, limiting alcohol consumption, regular exercise, and avoiding tobacco. Chemoprevention options include tamoxifen or raloxifene for breast cancer risk reduction in women who have not undergone risk-reducing surgery, as suggested by the USPSTF recommendations 1.
Some key points to consider:
- The NCCN guidelines recommend annual MRI starting at age 25, with the addition of annual mammograms at age 30 1.
- Risk-reducing bilateral mastectomy and bilateral salpingo-oophorectomy are effective strategies for reducing breast and ovarian cancer risk, respectively 1.
- Men with BRCA2 mutations should begin prostate cancer screening at age 40, and both men and women should consider pancreatic cancer screening starting at age 50 or earlier if there is a family history 1.
- Lifestyle modifications, such as maintaining a healthy weight and limiting alcohol consumption, are also important for reducing cancer risk in BRCA2 carriers.
Overall, these recommendations are more intensive than general population guidelines because BRCA2 mutations significantly increase cancer risks throughout life.
From the Research
Cancer Screening Strategies for BRCA2 Mutation Carriers
- Annual mammography and breast magnetic resonance imaging (MRI) screening, commonly alternated every six months, beginning at age 25 or individualized based on the earliest age of onset in the family, have significantly improved early detection of breast cancer among patients with deleterious BRCA mutations 2
- Clinical breast examination is also an important component of breast cancer screening for BRCA1/2 mutation carriers 3
- Novel imaging modalities, including abbreviated protocol MRI, ultrafast/accelerated MRI, and contrast-enhanced digital mammography, are being investigated for BRCA1/2 mutation carriers 4
Prevention Strategies for BRCA2 Mutation Carriers
- Risk-reducing mastectomy (RRM) is a highly effective method for reducing the risk of breast cancer development, with a decrease in incidence of breast cancer by 90 percent or more in patients with BRCA mutation 2
- Nipple-areolar sparing mastectomy (NSM) is now an option for BRCA1/2 mutation carriers, providing superior cosmetic results and optimizing oncological and aesthetic outcomes 2, 4
- Risk-reducing salpingo-oophorectomy (RRSO) is strongly recommended for BRCA1/2 mutation carriers, as it reduces mortality and decreases the risk of both breast cancer and ovarian cancer 2, 3, 4
- Chemoprevention with tamoxifen or raloxifene may be an effective risk-reduction option for BRCA mutation carriers, although further studies with longer follow-up are necessary 5
Considerations for BRCA2 Mutation Carriers
- The decision to undergo risk-reducing surgery should be made on an individual basis, taking into account quality of life and psychosocial factors, and recommendations should be readdressed periodically as science progresses and patients' goals may change 2, 3
- A personalized multidisciplinary path should guarantee accurate genetic and clinical counseling, adequate psychological support, and detailed information about all alternative risk management strategies 2
- International guidelines highlight that prophylactic mastectomy must be considered and discussed with healthy BRCA women, but without giving an absolute recommendation to perform it 2