Several important studies were published recently on the effectiveness of risk management strategies in BRCA carriers. Specifically, a recently published study in which ICARE participants were included suggested that preventive bilateral mastectomy for BRCA carriers greatly reduced the risk of developing breast cancer by 80%.1 Additionally, study findings showed that after preventive mastectomy, the chance of dying from breast cancer was less than 1%. Another very recently published study in BRCA1 carriers in which ICARE participants were also included is the FIRST to show that screening through MRI greatly lowered the risk of death from breast cancer (hazard ratio of 0.23) with a ‘statistically significant’ reduction seen for BRCA1 (but not BRCA2) carriers.2
Looking at studies about preventive removal of the ovaries and fallopian tubes (called bilateral salpingo-oophorectomy or BSO)
in BRCA carriers, a recently published study also including ICARE participants, showed that removing both ovaries and fallopian tubes lowered the risk of death from any cause (‘all-cause mortality’).3 The age-adjusted hazard ratio for BRCA1 was 0.28 and for BRCA2 was 0.43. Another study showed that BSO after surgery for breast cancer in BRCA carriers lowered the risk of death.4 Specifically, among almost 500 BRCA carriers treated at a single center in Italy, BSO significantly lowered the risk of death (hazard ratio [HR], 0.40; 95% CI, 0.25-0.64; P < .001),
with the strongest effect in BRCA1 carriers (HR, 0.35; 95% CI, 0.20-0.63; P = .001), those with triple-negative disease (HR, 0.21; 95% CI, 0.09-0.46; P = .002), and those with invasive ductal carcinoma (HR, 0.51; 95% CI, 0.31-0.84; P = .008). These findings highlight the potential importance of considering BSO, specifically in BRCA carriers with a breast cancer diagnosis.
As highlighted in the recently updated gynecologic section of the NCCN Familial/Genetic Breast, Ovarian, and Pancreatic Cancer Guidelines, it is important to consider BSO in BRCA carriers, but BSO leads to surgical menopause in those who are pre-menopausal. A new study showed declining cancer worry over time in most BRCA carriers who had preventive removal of their ovaries and fallopian tubes.5 However, there was a subset of patients who had concerns, and these patients are important to identify and try to offer additional support to. Furthermore, as we have highlighted in the guideline update, and our ‘Ask the Expert’ section (see below), hormone replacement treatment may be a consideration to reduce symptoms of menopause following removal of the ovaries among premenopausal BRCA carriers without a history of breast cancer or any other contraindications.
1Metcalfe, et al. Br J Cancer. 2024;130(2):269-274. PMID:38030749. Social media post Feb 27th, 2024. Available at https://tinyurl.com/post22724;
2Lubinski, et al. JAMA Oncol. 2024;Online ahead of print. PMID:38421676. Social media post March 5th, 2024. Available at https://tinyurl.com/post3524;
3Kotsopoulos, et al. JAMA Oncol. 2024;Online ahead of print. PMID:38421677. Social media post March 5th, 2024. Available at https://tinyurl.com/post3524;
4Martelli, et al. JAMA Surg. 2023;158(12):1275-1284. PMID:37792368. Social media post Dec 13th, 2023. Available at https://tinyurl.com/post121323;
5van Bommel, et al. Support Care Cancer. 2022;30(4):3409-3418. PMID:34997316. Social media post Oct 20th, 2023. Available at https://tinyurl.com/post102023.