Increasing the Uptake of Cancer Risk Management Strategies for Women With BRCA1/2 Sequence Variations
Menée auprès de 2 488 femmes porteuses de variants au niveau du gène BRCA1 ou BRCA2 (âge moyen : 41,2 ans ; durée moyenne de suivi : 9,2 ans), cette étude évalue l'effet d'une surveillance par IRM sur la mortalité par cancer du sein
The prevalence of pathogenic variants (PV) in the BRCA1 and BRCA2 (BRCA1/2) genes is approximately 1 in 400 in the general population, and women who carry a PV in BRCA1/2 have an elevated lifetime risk of developing breast cancer and ovarian cancer. Advances in technology now allow us to quickly identify carriers of PVs in cancer predisposition syndromes at lower cost than in the past. Identifying carriers of PVs in BRCA1/2 can allow for implementation of cancer risk management strategies in both men and women as outlined by the National Comprehensive Cancer Network (NCCN). With respect to breast cancer screening for women carrying PVs in BRCA1/2, NCCN guidelines recommend breast awareness starting at 18 years of age, followed by a clinical breast examination and breast MRI starting at 25 years of age, with the addition of mammography at 30 years of age. Women may also consider prophylactic mastectomy and antiestrogen therapy with tamoxifen or aromatase inhibitors to reduce the risk of developing breast cancer. For ovarian cancer risk reduction, the NCCN guidelines recommend risk-reducing bilateral salpingo-oophorectomy (RR-BSO) between 35 and 45 years of age. The use of oral contraceptives to reduce the risk of ovarian cancer is also an option recommended in the NCCN guidelines for carriers of PVs in BRCA1/2.
JAMA Oncology , éditorial, 2023