A recent large prospective cohort study (see ‘Related ObG Project’ below) demonstrated that by age 80, the cumulative breast cancer risk for BRCA1 mutation carriers is 72% (95% CI, 65%-79%) and 69% (95% CI, 61%-77%) for BRCA2. In the context of women with high risk for breast cancer, consider the following:
There are other management options aside from RRM for women who are at high risk for breast cancer due to pathogenic variants in BRCA and related genes. Chemoprevention using risk reducing medications such as tamoxifen and raloxifene may be appropriate. Selection of these agents depends on age, race, breast cancer risk and history of hysterectomy. Aromatase inhibitors have also been investigated for use as risk reducing agents. However, these medications are more effective at preventing ER+ disease which is more highly associated with BRCA2 compared to BRCA1. Surveillance programs using imaging studies are also available. Monitoring with MRI is not a preventative strategy but rather an approach that can be used for early detection.
According to the National Cancer Institute, other women at high risk for breast cancer, aside from BRCA mutation carriers, who might consider risk reducing mastectomy include (see ‘Primary Sources – Learn More’ below)
Those with a strong family history of breast cancer (such as having a mother, sister, and/or daughter who was diagnosed with bilateral breast cancer or with breast cancer before age 50 years or having multiple family members with breast or ovarian cancer)
Those with lobular carcinoma in situ (LCIS) plus a family history of breast cancer
Those who have had radiation therapy to the chest (including the breasts) before the age of 30 years
ACOG Practice Bulletin 182: Hereditary Breast and Ovarian Cancer Syndrome
NCCN Guidelines For Detection, Prevention, & Risk Reduction: Breast Cancer Risk Reduction
NCI: Surgery to Reduce the Risk of Breast Cancer
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