Genetic risks for ER-positive breast cancer in diverse populations
Project 1
This project looks at how inherited changes in genes like ATM, CHEK2, PALB2, and BRCA2 affect age-related risk and outcomes for ER-positive breast cancer, with attention to African American and West African groups.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Mayo Clinic Rochester NIH-funded |
| Lab location | 1 site (Rochester, United States) |
| Project ID | NIH-11176761 on NIH RePORTER |
What this research studies
From a patient's perspective, researchers will combine genetic test results and cancer records from very large population-based studies, targeted studies of African American and West African people, and high-risk registries to estimate how risk changes by age and whether a second cancer in the other breast is more likely. They will focus on carriers of pathogenic variants in ATM, CHEK2, PALB2 and BRCA2 and look at disease outcomes and prognosis for ER-positive tumors. Analyses will break down risks into 5–10 year age groups to provide clearer, actionable risk estimates. The team will use these findings to inform more personalized counseling and management recommendations for affected people.
Who could benefit from this research
Good fit: People who carry pathogenic variants in ATM, CHEK2, PALB2 or BRCA2 and patients with ER-positive breast cancer—particularly those of African American or West African ancestry—are the most relevant candidates for this research.
Not a fit: Patients without pathogenic variants in these genes or those with ER-negative breast cancer are unlikely to directly benefit from the specific findings.
Why it matters
Potential benefit: If successful, this work could help people with these gene changes and their clinicians tailor screening, prevention, and treatment plans based on age and specific gene variant.
How similar studies have performed: Previous studies have linked BRCA1/2 and PALB2 to high breast cancer risk and ATM/CHEK2 to moderate risk, but detailed age-specific risks, contralateral risks, and prognosis data—especially in diverse populations—remain incomplete.
Where this research is happening
Rochester, United States
- Mayo Clinic Rochester — Rochester, United States (Active)
Researchers
- Principal investigator: Couch, Fergus Joseph — Mayo Clinic Rochester
- Study coordinator: Couch, Fergus Joseph
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.