Positive Monogenic Risk
Monogenic risk for Breast Cancer results from a pathogenic variant in any of the following genes: BRCA1, BRCA2, PALB2, PTEN, and TP53. For participants with monogenic risk, the GIRA report recommends referral to a genetic counselor.
High BOADICEA Risk Score
BOADICEA is a comprehensive model used to estimate the risk of developing breast or ovarian cancer by combining information on monogenic risk, polygenic risk scores (PRSs), family history, and personal factors including age, sex, body mass index, breast density, reproductive history, and hormonal exposure.
A high PRS is associated with 1.6 to 2.5 times increased risk for developing Breast Cancer relative to a person not in the high-risk category. The data is based on populations of African, European, Hispanic/Latino, and Asian descent. Information is insufficient or not available for populations of other descent.
For participants with a lifetime risk of Breast Cancer > 12%, recommendations include:
- Monthly self-breast exam and annual breast exam by a care provider.
- Risk factor counseling; maintaining ideal body weight, a diet rich in fruits and vegetables, exercising regularly and minimizing alcohol intake.
- Consider consultation with a breast specialist about medications (e.g., tamoxifen) to reduce the risk of breast cancer.
- Consider risks and benefits of hormone replacement therapy.
- Consider annual mammograms starting at age 40 or 10 years before the youngest breast cancer in the family, whichever is younger.
- Consider annual breast MRI starting at age 40 or 10 years before the youngest breast cancer in the family, whichever is younger.