Understanding genetic variants linked to breast, ovarian, and pancreatic cancers
BRCA1/2 and Hereditary Breast, Ovarian and Pancreatic (HBOP) Cancer Variant Curation Expert Panels
This study is for women with certain genetic changes that raise their chances of getting breast, ovarian, or pancreatic cancer, and it aims to help them better understand their cancer risks by improving how these genetic changes are classified.
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-10894307 on NIH RePORTER |
What this research studies
This research focuses on women who carry genetic variants that increase their risk for breast, ovarian, and pancreatic cancers. It aims to improve the classification of these variants, particularly in genes like BRCA1, BRCA2, ATM, and BARD1, to help patients understand their cancer risks better. By developing expert panels and rules for variant classification, the research seeks to enhance risk assessment and management strategies for affected individuals. This will ultimately empower patients to make informed decisions regarding their health and treatment options.
Who could benefit from this research
Good fit: Ideal candidates for this research are women with known germline variants in breast, ovarian, or pancreatic cancer predisposition genes.
Not a fit: Patients without any identified germline variants in the relevant cancer predisposition genes may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide patients with clearer insights into their cancer risks and more personalized management strategies.
How similar studies have performed: Previous research has shown success in classifying genetic variants and improving patient outcomes in hereditary cancer risk assessment.
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.