Breast Cancer Screening in Women with BRCA1 or BRCA2 Mutations

NCCN Guidelines

The National Comprehensive Cancer Network (known as the NCCN) has recently published practice guidelines for care of people with BRCA1/2 mutations.  The NCCN guidelines related to breast cancer screening in women include the following:

  1. Monthly breast self-exam (beginning in early adulthood)
  2. Semiannual clinical breast examination (beginning at 25 years old)
  3. Annual mammogram (beginning at age 25-35 years)
  4. Annual breast MRI (beginning at age 25-35 years)

Age to Begin Screening

The ages at which screening starts are commonly individualized based on the youngest age of breast cancer diagnosis in the family (with screening beginning 10 years of age prior to that for other high risk women in the family.

MRI and Mammography

The evidence supporting the importance of MRI in breast cancer screening in women with BRCA1 or BRCA2 mutations is now quite strong.  Additionally, by using both MRI and mammography, it is possible to detect more cancers than with either alone.

Key References – Breast Cancer Screening in Women with BRCA1/2 Mutations

Daly MB, Axilbund JE, Buys S, et al. Genetic/familial high-risk assessment: breast and ovarian.  Journal of the National Comprehensive Cancer Network 2010; 8:562-94.

Kriege M, Brekelmans CT, Boetes C, et al. Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition.  New England Journal of Medicine 2004; 351:427-37.

Warner E, Messersmith H, Causer P, et al. Systematic review: using magnetic resonance imaging to screen women at high risk for breast cancer.  Ann Intern Med 2008; 148:671-9.

Warner E, Plewes DB, Hill KA, et al. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination.  JAMA 2004; 292:1317-25.