Managing a woman with BRCA mutations? Shared decision-making is key
A collaborative assessment of options and trade-offs—perhaps using visual decision aids—can help.
PRACTICE RECOMMENDATIONS
› Recommend genetic screening for the BRCA mutation if a patient’s family history includes a breast cancer diagnosis before age 50, occurrences of both breast and ovarian cancers, or other suggestive features. C
› Advise women with the BRCA gene to return for a clinical breast exam every 6 to 12 months starting at age 25, and to start radiologic screening at age 30. C
› Consider recommending bilateral salpingo-oophorectomy to prevent ovarian cancer in women 35 to 40 years of age with a BRCA1 mutation who have completed childbearing. C
Strength of recommendation (SOR)
A Good-quality patient-oriented evidence
B Inconsistent or limited-quality patient-oriented evidence
C Consensus, usual practice, opinion, disease-oriented evidence, case series
Adverse effects of RRSO include surgery complications (wound infection, small bowel obstruction, bladder perforation) and effects of early menopause (vasomotor symptoms, decreased sexual functioning, and increased risk of osteoporosis, cardiovascular disease, and all-cause mortality).39-41 In the absence of contraindications, ACOG recommends using hormone therapy in women undergoing RRSO until the natural age of menopause,42 particularly if their breast tissue has been removed.
Salpingectomy as an alternative. In an attempt to reduce these adverse effects of early menopause, and because a large proportion of high-grade serous tumors originate in the fallopian tube,43 interest has increased in the use of risk-reducing salpingectomy (removal of fallopian tubes) and delayed oophorectomy in women at high risk of ovarian cancer.42 Studies have shown this may be a cost-effective approach and an acceptable alternative in BRCA mutation carriers who are unwilling to undergo RRSO.44,45 A clinical trial investigating this approach in women with BRCA mutations is currently underway in the United States.46 Many centers offer salpingectomy to high-risk patients < 40 years old, understanding that ovary removal is an eventuality for these patients.
When oral contraceptive pills might be beneficial. In younger women with BRCA mutations, there may also be a role for oral contraceptive pills (OCPs) as a risk-reducing strategy. Meta-analyses have shown an approximately 50% reduction in the risk of ovarian cancer among women with BRCA mutations who use OCPs.47-49
ACOG advises that it is appropriate for women with BRCA mutations to use oral contraceptives if indicated (for pregnancy prevention or menstrual cycle regulation), and that it is reasonable to use them for cancer prevention.26 NCCN does not make a formal recommendation, although it does state OCPs may reduce the risk of ovarian cancer in women with a BRCA mutation.36 Case-control studies have produced conflicting data on the association between OCP use and breast cancer risk in BRCA mutation carriers,50-53 although 2 meta-analyses found no significant association in this population.47,48
Decision aids for women with BRCA mutations
Decision aids are visual displays of risk that help patients work through complex decisions. Most decision aids are in print or digital format and include information about the decision to be made as well as pictorial examples of possible outcomes. Pictographs are especially helpful in communicating information. Some decision aids for women with BRCA mutations can be complicated with multiple outcomes (ie, breast cancer and ovarian cancer) and multiple potential interventions (risk-reducing surgery, enhanced screening options).54
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