Management of High-Risk Women

The American Cancer Society recommends high-risk surveillance for women with a calculated lifetime breast cancer risk that is greater than 20 percent.

The lifetime risk estimation is based on family history (using tools such as the Claus model).

High-risk surveillance includes alternating annual breast MRI and mammogram to ensure breast cancer screening every 6 months.

The National Comprehensive Cancer Network (NCCN) has established and published guidelines for cancer care, which are focused on quality, effectiveness, and efficiency. The guidelines are continuously updated to reflect current research. Specific recommendations for screening and management of individuals with an increased lifetime risk of cancer due to a hereditary cancer syndrome are briefly summarized below. Please note that most current and detailed guidelines are available through NCCN “Genetic/Familial High-Risk Assessment: Breast and Ovarian.”

NCCN Recommendations for Breast Cancer Risk Management: High-Risk Genes

BRCA1, BRCA2, CDH1, PTEN, STK11, TP53

NCCN recommendations for high-risk breast cancer genes, including BRCA1, BRCA2, CDH1, PTEN, STK11, and TP53 have been established. Current guidelines (version 1.2015) recommend breast cancer screening beginning between ages 20 and 30 depending on gene and youngest age of breast cancer diagnosis in the family. Screening involves alternating breast MRI and mammography every six months. Mammograms are not typically recommended for women younger than age 30 and at-risk individuals should discuss available screening options with their physicians. Individuals may also consider risk-reducing mastectomy due to the high lifetime risk of breast cancer. This surgery is done prophylactically, meaning prior to cancer diagnosis as a preventable measure.

NCCN Recommendations for Breast Cancer Risk Management: Moderate-Risk Genes

ATM, CHEK2, PALB2

NCCN recently published recommendations for moderate-risk genes (version 1.2015). Annual breast MRI as part of routine breast cancer screening is recommended for individuals with a mutation in ATM, CHEK2, and PALB2 genes due to the >20 percent lifetime risk of breast cancer. Age to begin screening is not specified and may be based on personal risk factors and family history. For example, breast cancer screening in the general population is recommended 10 years prior to the youngest age of diagnosis in the family or at age 40. Women at an increased risk should discuss this information with their physicians to establish an appropriate screening routine.