Women with BRCA1/2 gene mutations need multidisciplinary management to cater to their medical needs, including guidance on testing, screening, preventive surgery, contraception, and management of menopausal symptoms.
A new review to help physicians manage the risk of ovarian cancer in women who carry the BRCA1/2 gene mutations is published in CMAJ (Canadian Medical Association Journal).
BRCA1 and BRCA2 genetic variants are a clinically important risk factor for the development of ovarian and breast cancer, and women who carry these variants have a lifetime risk of ovarian cancer of 39%-44% and 11%-17%, respectively.
The review, which looked at 46 articles published between 2014 and 2019, provides guidance on screening, preventive surgery, contraception and management of menopausal symptoms.
- Testing - women with a family history of BRCA1/2 should be tested for the variants, as should women with a diagnosis of ovarian cancer but without family history. li>
- Screening - there is no effective screening test to detect ovarian cancer accurately. Ultrasonography and blood tests have high levels of false positives, which can cause anxiety and lead to unnecessary surgery, early menopause and other harms.
- Surgery to reduce risk - as there are no effective screening programs, surgery to remove ovaries and fallopian tubes can reduce the lifetime risk by 80%. Surgery should be performed between ages 35 and 40 years in women with BRCA1 and between 40 and 45 years in women with BRCA2. Other types of surgery, such as fallopian tube removal and hysterectomy, are also discussed.
- Contraception and fertility - although evidence is controversial, it appears hormonal contraception is safe for this population. Given that decisions around fertility and family planning are complex, early consultation with a fertility specialist is encouraged.
- Management of menopausal symptoms - the risk of early menopause resulting from removal of ovaries can be managed with hormone replacement therapy to reduce the negative effects of bone loss, heart disease and other conditions. Women who have had breast cancer are at increased risk of recurrence and should be treated with non-hormonal options. Referral to a menopause specialist is recommended.
"Women with these variants have unique and broad medical needs that cross medical specialties and areas of expertise, from surgery to genetics, oncology to nursing, menopause specialists to social work." says Dr. Walker. "Multidisciplinary management of these women is essential."