From the Guidelines
The recommended risk stratification approach for high-risk breast cancer screening involves a comprehensive assessment of multiple risk factors, including family history, genetic mutations, personal history of breast biopsies, and previous chest radiation therapy, with annual mammography and breast MRI starting at age 30 or 10 years before the earliest family diagnosis, as supported by the most recent study 1.
Key Risk Factors
- Family history of breast or ovarian cancer
- Known genetic mutations (particularly BRCA1/2)
- Personal history of breast biopsies showing atypical hyperplasia or lobular carcinoma in situ
- Previous chest radiation therapy before age 30
Screening Recommendations
- Annual mammography starting at age 30 (or 10 years before the earliest family diagnosis)
- Annual breast MRI
- Clinical breast examinations every 6-12 months
Risk Assessment Tools
- Tyrer-Cuzick model
- BRCAPRO model
- Gail model
- Lifetime risk threshold of 20-25% typically warranting enhanced screening
Genetic Counseling and Testing
- Offered to women with strong family histories or those of Ashkenazi Jewish descent
- Important for identifying genetic mutations and providing personalized screening recommendations The approach outlined above is supported by recent studies, including the 2023 ESMO clinical practice guideline 1, which recommends intensified screening for women with high-risk genetic mutations, and the 2024 ACR Appropriateness Criteria update 1, which emphasizes the importance of risk assessment and personalized screening recommendations. By prioritizing the most recent and highest-quality evidence, we can provide the best possible care for women at high risk of breast cancer, reducing morbidity, mortality, and improving quality of life.
From the FDA Drug Label
"High risk" is defined as women at least 35 years of age with a 5 year predicted risk of breast cancer ≥ 1.67%, as calculated by the Gail Model. Examples of combinations of factors predicting a 5 year risk ≥ 1. High risk of breast cancer is defined as at least one breast biopsy showing lobular carcinoma in situ (LCIS) or atypical hyperplasia, one or more first-degree relatives with breast cancer, or a 5-year predicted risk of breast cancer ≥ 1. 66% (based on the modified Gail model).
The risk stratification approach for high-risk breast cancer screening is based on the Gail Model or modified Gail model, which considers factors such as:
- Age
- Number of first-degree relatives with breast cancer
- Number of breast biopsies
- Age at menarche
- Nulliparity or age of first live birth
- History of lobular carcinoma in situ (LCIS) or atypical hyperplasia A 5-year predicted risk of breast cancer ≥ 1.67% or ≥ 1.66% is considered high risk 2, 3.
From the Research
Risk Stratification for High-Risk Breast Cancer Screening
The risk stratification approach for high-risk breast cancer screening involves identifying individuals with a higher-than-average risk of developing breast cancer and recommending appropriate screening strategies. The following factors are considered when stratifying risk:
- Genetic mutations (e.g., BRCA1/2) 4, 5, 6
- Family history of breast cancer 4, 5, 6
- Personal history of breast cancer or biopsy showing atypia 5, 6
- Dense breasts 5, 6
- Age of onset of breast cancer in family members 4
Screening Recommendations for High-Risk Women
Based on the risk stratification, the following screening recommendations are made:
- Women with genetic mutations (e.g., BRCA1/2) or a calculated lifetime risk of 20% or more: annual screening breast MRI starting at ages 25-30, and annual mammography starting at ages 25-40 5, 6
- Women with a personal history of breast cancer or biopsy showing atypia: annual supplemental breast MRI, especially if other risk factors are present 5
- Women with dense breasts: breast MRI is recommended for supplemental screening 5
- Women who qualify for but cannot undergo breast MRI: contrast-enhanced mammography or ultrasound could be considered 5
Key Considerations
Some key considerations in the risk stratification and screening of high-risk women include:
- The age of onset of breast cancer in family members can help determine when to start preventive measures 4
- The sensitivity of mammography is lower in younger women with dense breasts, making MRI a more effective screening tool 6
- The addition of annual contrast-enhanced MRI to mammography can improve cancer detection and reduce breast cancer mortality rate 6, 7
- Supplemental breast MRI remains widely underutilized among high-risk women, despite its potential benefits 8