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. “Given the substantial lifetime risk and high mortality of ovarian cancer in women with BRCA1/2 variants, risk reduction is a priority,” says Dr. Melissa Walker, a fifth-year resident in obstetrics and gynecology at the University of Toronto, Toronto, Ontario.
Ovarian cancer has the highest mortality of all female reproductive cancers; largely owing to the absence of early symptoms and lack of effective screening, resulting in diagnosis at an advanced stage. Hereditary breast and ovarian cancers include specifically identified genetic variants; that greatly increase the lifetime risk of breast and ovarian cancer.
Diagnosis of ovarian cancer
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, tested for the variants; as should women with a diagnosis of ovarian cancer but without family history.
However, 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 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 discuss. 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.
Risk of early menopause
Management of menopausal symptoms the risk of early menopause resulting from removal of ovaries; can be manage with hormone replacement therapy to reduce the negative effects of bone loss, heart disease and other conditions. But women who have had breast cancer are at increased risk of recurrence and should be treated with non-hormonal options.
But 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.”