How inherited gene changes affect breast cancer risk
Resolving the cancer relevance of predisposition gene mutations
This project looks at how inherited changes in certain genes affect breast cancer risk and treatment for people with or at risk of breast cancer.
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-11177611 on NIH RePORTER |
What this research studies
From a patient's perspective, the team analyzes genetic testing data from people with and without breast cancer to estimate 5- and 10-year as well as lifetime risks linked to known predisposition genes such as BRCA1/2, ATM, CHEK2, PALB2, and TP53. They compare risks by age and across different populations, including minority groups, and search for new genes that might explain unexplained family histories. The goal is to make genetic test results more useful for managing cancer risk and for selecting breast cancer therapies. The work combines large-scale genetic sequencing, analysis of clinical records, and collaboration with diverse patient groups.
Who could benefit from this research
Good fit: People with a personal or family history of breast cancer or known inherited changes in genes like ATM, BRCA1/2, CHEK2, PALB2, RAD51C/D, BARD1, NF1, PTEN, or TP53 are the most relevant candidates.
Not a fit: People without a personal or family history of breast cancer and no relevant inherited gene changes are unlikely to benefit directly from this work.
Why it matters
Potential benefit: If successful, patients could receive more precise short-term risk estimates and more personalized guidance for prevention and treatment decisions.
How similar studies have performed: Previous studies from this group and others have linked many of these genes to breast cancer risk, but generating age-specific short-term risk estimates and identifying additional predisposition genes is newer work.
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.