Improving the classification of uncertain cancer gene variants
Upgrading rigor and efficiency of germline cancer gene variant classification for the 2020s
['FUNDING_R01'] · UNIVERSITY OF UTAH · NIH-11010380
This study is working to improve how we understand and classify genetic changes linked to cancer, so families can get clearer information about their risks and better support for managing their health.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF UTAH (nih funded) |
| Locations | 1 site (SALT LAKE CITY, UNITED STATES) |
| Trial ID | NIH-11010380 on ClinicalTrials.gov |
What this research studies
This research focuses on enhancing the methods used to classify genetic variants associated with cancer, particularly those that are currently uncertain in their significance. By developing a more rigorous and efficient classification system, the project aims to better inform clinical management for families affected by these variants. The approach involves collaboration among various genetic testing communities to create a standardized framework for evaluating these variants. Patients may benefit from clearer guidance on their genetic risks and more personalized management strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals who have undergone genetic testing for cancer predisposition and have received results indicating variants of uncertain significance.
Not a fit: Patients with clearly classified benign or pathogenic variants may not receive direct benefits from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate classifications of genetic variants, improving patient care and management for those at risk of hereditary cancers.
How similar studies have performed: Previous efforts to classify genetic variants have shown promise, but this research aims to create a more comprehensive and generalizable approach, making it a novel endeavor.
Where this research is happening
SALT LAKE CITY, UNITED STATES
- UNIVERSITY OF UTAH — SALT LAKE CITY, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: TAVTIGIAN, SEAN VAHRAM — UNIVERSITY OF UTAH
- Study coordinator: TAVTIGIAN, SEAN VAHRAM
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.