Testing many gene changes to learn how they influence inherited cancer risk
Expanding the Reach of Massively Parallel Variant Effect Screens
['FUNDING_OTHER'] · UNIVERSITY OF MICHIGAN AT ANN ARBOR · NIH-11323012
This project uses high-throughput lab tests to see how thousands of changes in DNA mismatch repair genes affect cancer risk for people with inherited cancer syndromes.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MICHIGAN AT ANN ARBOR (nih funded) |
| Locations | 1 site (ANN ARBOR, UNITED STATES) |
| Trial ID | NIH-11323012 on ClinicalTrials.gov |
What this research studies
Researchers are building lab methods that can measure the effects of thousands of different DNA changes at once. They will focus on DNA mismatch repair (MMR) genes, which when altered can raise the chance of inherited cancers like Lynch syndrome. The team will pay special attention to variants that only partly change gene function and to interactions between nearby variants. The resulting maps will be used to make genetic test results clearer and more useful for patients and families.
Who could benefit from this research
Good fit: People with a personal or family history of Lynch syndrome or other inherited cancers, or those who have uncertain (VUS) variants in MMR genes, are the most likely candidates to benefit.
Not a fit: Patients whose cancers are unrelated to DNA mismatch repair genes or who have not undergone genetic testing are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could turn uncertain genetic test results into clearer information that helps guide screening and care decisions.
How similar studies have performed: Previous large-scale variant-mapping studies have successfully linked lab-measured effects to clinical interpretation, but scaling this across an entire MMR pathway and probing subtle partial-loss variants is a newer advance.
Where this research is happening
ANN ARBOR, UNITED STATES
- UNIVERSITY OF MICHIGAN AT ANN ARBOR — ANN ARBOR, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: KITZMAN, JACOB OTTO — UNIVERSITY OF MICHIGAN AT ANN ARBOR
- Study coordinator: KITZMAN, JACOB OTTO
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.
Conditions: Cancers