Ten-point guide on the management of healthy women carrying BRCA1/2 mutations

Abstract

Healthy women carrying pathogenic germline mutations in BRCA1 or BRCA2 genes have an increased risk of breast and ovarian cancer. Prophylactic gynecological surgery includes risk-reducing bilateral salpingo-oophorectomy, which, in selected cases, can be combined with hysterectomy. Prophylactic gynecological surgery is recommended after completion of childbearing and can be performed for women aged 35 or more for BRCA1 or 40 or more for BRCA2 mutation carriers. Risk-reducing bilateral salpingo-oophorectomy has several adverse effects related to estrogen deprivation, and so hormonal therapy could be the main strategy for healthy women. However, health professionals have many doubts about whether they are able to offer clear counseling on the management of early menopausal symptoms (i.e. vasomotor and genitourinary symptoms) in healthy women with a hereditary predisposition to female cancer. This 'Ten-Point Guide' summarizes the evidence regarding prophylactic gynecological surgery and supports healthcare providers in the management of healthy women carrying germline BRCA1 and BRCA2 mutations.

Keywords: BRCA mutation; Breast cancer; Genitourinary syndrome of the menopause; Hormone therapy; Menopause; Osteoporosis; Risk-reducing salpingo-oophorectomy; Vasomotor symptoms.