Improving how inherited cancer gene changes are interpreted
Upgrading rigor and efficiency of germline cancer gene variant classification for the 2020s
This project works to make genetic test results for inherited cancer genes like BRCA1 and BRCA2 clearer and more reliable for people and families.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Utah State Higher Education System--University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project ID | NIH-11266199 on NIH RePORTER |
What this research studies
This project focuses on variants of uncertain significance (VUS) found in inherited cancer genes and aims to give families clearer answers. The team will combine large collections of genetic data, standardized interpretation rules, laboratory functional tests, and computational methods to better classify unclear gene changes. They will create shared procedures and expert review steps so different testing labs reach more consistent conclusions. Over time this should let more people with unclear genetic findings receive definite classifications.
Who could benefit from this research
Good fit: People who have had genetic testing that found a VUS in BRCA1, BRCA2, or similar inherited cancer-risk genes, or who can share genetic data or samples for re-analysis, would be the most relevant participants.
Not a fit: People without inherited cancer gene changes or with variants outside the genes studied are unlikely to see direct benefit from this project.
Why it matters
Potential benefit: If successful, people with unclear genetic test results could get clearer, more actionable answers about their inherited cancer risk.
How similar studies have performed: Previous consortium efforts and the ACMG guideline framework have helped reclassify some VUS, but a general, highly consistent system across genes remains to be achieved.
Where this research is happening
Salt Lake City, United States
- Utah State Higher Education System--University of Utah — Salt Lake City, United States (Active)
Researchers
- Principal investigator: Tavtigian, Sean Vahram — Utah State Higher Education System--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.