What screening tests are recommended for breast cancer in high-risk women, including those with a family history or genetic predisposition (Genetic Mutation)?

From the Guidelines

Screening for breast cancer in high-risk women should include annual mammography, annual breast MRI, and clinical breast examinations every 6-12 months. Women with genetic mutations like BRCA1/2, a strong family history of breast cancer, prior chest radiation therapy before age 30, or a calculated lifetime risk greater than 20% are considered high risk 1. Screening typically begins at age 25-30 or 10 years before the earliest breast cancer diagnosis in the family. Mammography detects calcifications and masses, while MRI is more sensitive for detecting invasive cancers, particularly in dense breast tissue 1. Some high-risk women may also benefit from supplemental screening with ultrasound. Regular clinical breast examinations by healthcare providers complement imaging studies by detecting palpable abnormalities. Genetic counseling should be offered to high-risk women to guide screening protocols and consider risk-reducing strategies such as chemoprevention with tamoxifen, raloxifene, or aromatase inhibitors, or prophylactic surgery in appropriate candidates.

Key Considerations

• High-risk women should begin annual screening mammography at 30 years of age or 10 years prior to the youngest family member who had breast cancer, but generally not before 30 years of age 1.
• Women who underwent thoracic or upper abdominal radiation therapy at an early age (<30 years) should begin screening mammography 8 years after radiation therapy but not before 25 years of age 1.
• The American Cancer Society has recommended annual breast MRI for breast cancer screening in high-risk women since 2007 1.
• The ACR recommends annual breast MRI in high-risk women beginning as early as 25 years of age 1.

Screening Modalities

• Mammography: detects calcifications and masses
• MRI: more sensitive for detecting invasive cancers, particularly in dense breast tissue
• Ultrasound: may be beneficial for supplemental screening in some high-risk women
• Clinical breast examinations: complement imaging studies by detecting palpable abnormalities

Risk Assessment

• Genetic mutations like BRCA1/2
• Strong family history of breast cancer
• Prior chest radiation therapy before age 30
• Calculated lifetime risk greater than 20% 1

From the FDA Drug Label

Tamoxifen citrate tablets are indicated to reduce the incidence of breast cancer in women at high risk for breast cancer. “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.

The FDA drug label does not answer the question.

From the Research

Screening Tests for High-Risk Women

• Annual screening mammography and adjunctive annual screening breast MRI are recommended for patients at high risk for breast cancer, including those with a ≥20% lifetime risk, high-risk germline mutation, or history of thoracic radiation treatment between 10-30 years of age 2, 3
• Breast MRI is the supplemental screening method of choice for most women at higher-than-average risk, with MRI surveillance starting at ages 25 to 30 for those with genetics-based increased risk or calculated lifetime risk of 20% or more 2
• Annual mammography (with a variable starting age between 25 and 40, depending on the type of risk) is also recommended for women with genetics-based increased risk or calculated lifetime risk of 20% or more 2
• Contrast-enhanced mammography or ultrasound could be considered for women who qualify for but cannot undergo breast MRI 2, 3
• Digital breast tomosynthesis is a new technology that addresses limitations in mammography resulting from overlapping breast tissue, improving its sensitivity and specificity, and may be used as an alternative to mammography 4, 5

Specific Recommendations

• Women diagnosed with breast cancer before age 50 or with personal histories of breast cancer and dense breasts should undergo annual supplemental breast MRI 2
• Others with personal histories, and those with atypia at biopsy, should strongly consider MRI screening, especially if other risk factors are present 2
• Women with dense breasts who desire supplemental screening should undergo breast MRI 2
• Pregnant and lactating patients at average risk for breast cancer are recommended to undergo age-appropriate screening mammography 3

Comparison of Screening Methods

• Breast tomosynthesis has been shown to have higher sensitivity and specificity compared to digital mammography and breast MRI in some studies 4
• However, the difference in performance between breast tomosynthesis and breast MRI was not significant in one study 4
• Supplemental MRI for women with dense breasts added to DBT screening led to greater benefits and increased harms in a model-based comparative effectiveness analysis 5