Curating genetic variants linked to colon cancer and polyposis
InSiGHT-ClinGen Polyposis/Colon Cancer Variant Curation Expert Panel
This study is bringing together a team of experts to better understand the genetic changes linked to colon polyps and hereditary colorectal cancer, so that patients can get more accurate genetic testing and personalized care to manage their cancer risk.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Vermont & St Agric College NIH-funded |
| Lab location | 1 site (Burlington, United States) |
| Project ID | NIH-10894666 on NIH RePORTER |
What this research studies
This research focuses on creating a team of experts to evaluate and classify genetic variants that are associated with colon polyposis and hereditary colorectal cancer. By systematically determining the clinical significance of these variants, the project aims to enhance the understanding of genetic risks for patients. The initiative combines efforts from two major groups to ensure comprehensive curation of relevant genes, which is crucial for accurate cancer risk assessment and personalized treatment options. Patients may benefit from improved genetic testing and risk management strategies based on the findings.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with a family history of colon cancer or polyposis, particularly those who may benefit from genetic testing.
Not a fit: Patients without a family history of colorectal cancer or those who do not have genetic variants associated with the conditions studied may not receive benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate genetic testing and better risk assessment for patients at risk of colon cancer.
How similar studies have performed: Previous efforts in genetic variant curation have shown success in improving understanding of hereditary cancer risks, indicating that this approach is both valuable and necessary.
Where this research is happening
Burlington, United States
- University of Vermont & St Agric College — Burlington, United States (Active)
Researchers
- Principal investigator: Greenblatt, Marc S — University of Vermont & St Agric College
- Study coordinator: Greenblatt, Marc S
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.