Breast Cancer

Polygenic risk

People with high polygenic risk scores are 1.6 to 2.5 times more likely to get breast cancer than are people who aren't in the high-risk category.

This estimate is based on data from people of African, European, and Hispanic or Latino ancestry. Information is lacking or not available for those of other ancestries.

Monogenic risk

Monogenic risk of breast cancer can be due to variants in any one of these genes:

  • BRCA1.
  • BRCA2.
  • PALB2.
  • PTEN.
  • TP53.

For participants with monogenic risk, the Genome Informed Risk Assessment (GIRA) report recommends referral to a genetic counselor.

BOADICEA score

The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) score is a combined score used to estimate people's risk of getting breast or ovarian cancer.

For participants with a lifetime breast cancer risk above 12%, recommendations include:

  • Do a monthly self-breast exam and get an annual breast exam from a healthcare professional.
  • Get risk factor counseling on topics including:
    • Reaching or keeping a healthy body weight.
    • Eating a diet rich in fruits and vegetables.
    • Exercising regularly.
    • Minimizing alcohol intake.
  • Consider consulting a breast specialist about medicines, such as tamoxifen (Soltamox), to lower the risk of breast cancer.
  • Consider the risks and benefits of hormone replacement therapy.
  • Consider recommending annual mammograms, starting at age 40 or 10 years before the youngest breast cancer in the family — whichever comes first.
  • Consider recommending an annual breast MRI, starting at age 40 or 10 years before the youngest breast cancer in the family — whichever comes first.