Breast cancer screening for women with moderate genetic or estimated lifetime risk

Breast Cancer Screening Adherence for Women at Moderate Risk for Breast Cancer

This project will see if women aged 30–74 with certain moderate-risk gene variants or a 20–40% lifetime risk follow recommended annual breast MRI and mammogram screening.

Quick facts

• Study type: Observational
• Enrollment: 150 (estimated)
• Ages: 30 Years to 75 Years
• Sex: Female
• Sponsor: University of Southern California (Academic / other)
• Locations: 2 sites (Los Angeles, California and 1 other locations)
• Trial ID: NCT07076147 on ClinicalTrials.gov

What this trial studies

This observational study compares women who carry moderately increased-risk gene variants (ATM, CHEK2, BARD1, RAD51C, RAD51D) with women whose Tyrer-Cuzick model gives a 20–40% lifetime breast cancer risk. Participants complete a questionnaire and allow review of their medical records to document whether they received recommended annual breast MRI and/or mammography. Eligible women had genetic counseling at USC Norris or Los Angeles General at least 12 months before enrollment and were advised to begin annual imaging at the time of counseling. The study will analyze differences in screening uptake and identify facilitators and barriers to adherence.

Who should consider this trial

Good fit: Women aged 30–74 without prior breast cancer who had genetic counseling at USC Norris or LA General at least 12 months ago and who either carry a moderate-risk pathogenic variant (ATM, CHEK2, BARD1, RAD51C, or RAD51D) or have a Tyrer-Cuzick–estimated lifetime risk of 20–40% are ideal candidates, provided they were recommended annual MRI and/or mammogram and speak English or Spanish.

Not a fit: Women with a prior breast cancer diagnosis, metastatic cancer at the time of counseling, those outside the 30–74 age range, those who did not receive counseling at the specified Los Angeles centers, or who cannot communicate in English or Spanish are unlikely to benefit from participation.

Why it matters

Potential benefit: If successful, the findings could help tailor outreach and support so more moderate-risk women complete recommended screening and potentially detect cancers earlier.

How similar studies have performed: Previous work has improved screening in high-risk groups, but direct comparisons of moderate-risk mutation carriers versus empiric-risk women are limited, so this design is relatively novel.

Eligibility criteria

Inclusion Criteria:

* \* \>= 30 years

  * =\< 75 years
  * Women with either:

    * Genetic test results showing moderately increased breast cancer risk due to a pathogenic/likely pathogenic variant in ATM, CHEK2, BARD1, RAD51C, or RAD51D (Mutation carrier group) OR
    * Calculated lifetime breast cancer risk estimates between 20% and 40% according to the Tyrer-Cuzick V8.0B empiric risk model (Empiric risk group)
  * Patients provided breast cancer risk assessments by genetic counselors at USC Norris or LA General Hospital beginning in 2021 and at least 12 months ago
  * Women recommended to undergo annual breast MRI and/or annual mammogram beginning at the time of their genetic counseling risk assessment
  * English or Spanish speaking patients

Exclusion Criteria:

* \* History of breast cancer before genetic counseling at University of Southern California (USC)

  * Any metastatic cancer diagnosis at time of genetic counseling risk assessment
  * Deceased
  * Patient underwent a risk reducing mastectomy before their genetic counseling risk assessment

Where this trial is running

Los Angeles, California and 1 other locations

• Los Angeles General Medical Center — Los Angeles, California, United States (Recruiting)
• USC / Norris Comprehensive Cancer Center — Los Angeles, California, United States (Recruiting)

Study contacts

• Principal investigator: Jacob Comeaux — University of Southern California

Conditions Breast Carcinoma