Assessing Risk in Young Patients

Background

Health care providers can play a critical role in reducing the incidence of hereditary breast and ovarian cancer by identifying patients with elevated risk. The following guidelines can help identify young women who may have a higher risk for hereditary breast and ovarian cancer and detect early-onset breast cancer among these women.

Who is at high risk for breast cancer?

According to the American Cancer Society, women who are at high risk for breast cancer include those who:

• Have a lifetime risk of breast cancer of about 20% to 25% or greater, according to risk assessment tools that are based mainly on family history.
• Have a known BRCA1 or BRCA2 gene mutation (based on genetic testing).
• Have a first-degree relative (parent, brother, sister, or child) with a BRCA1 or BRCA2 gene mutation, and have not had genetic testing themselves.
• Had radiation therapy to the chest before age 30.
• Have Li-Fraumeni syndrome, Cowden syndrome, or Bannayan-Riley-Ruvalcaba syndrome, or have first-degree relatives with one of these syndromes.

Genetic counseling and testing guidelines

• BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing (US Preventive Services Task Force)
• Genetic Counseling and Testing for Breast Cancer Risk (American Cancer Society)
• NCCN Guidelines Version 1.2025 Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic (National Comprehensive Cancer Network) Note: Free registration required to access.

Risk assessment tools

Identifying women at increased risk for developing a hereditary cancer is the critical first step to reduce the incidence of some cancers. Health care providers can use the following resources to identify and manage patients who may be at high risk for hereditary breast and ovarian cancer. Providers can also use the tools to increase their understanding of the risk factors that put women at high genetic risk for breast and ovarian cancer.

Genetics risk assessment tool

• Breast Cancer Genetics Referral Screening Tool (B-RST)

Breast cancer risk assessment tools

• National Institutes of Health — Families SHARE: Sharing Health Assessment and Risk Evaluation
• National Cancer Institute Breast Cancer Risk Assessment Tool

The US Preventive Services Task Force offers more tools for identifying breast cancer risk and determining the need for genetic counseling for patients, including the Pedigree Assessment Tool and The Ontario Family History Assessment Tool.