Investigating genetic variants linked to hereditary cancer in stem cells
Hereditary Cancer Variants of Uncertain Significance in Stem Cells
This study is looking at how certain unclear genetic changes in people with Lynch syndrome might affect their cancer risk, using advanced lab techniques to better understand these changes and help improve diagnosis and treatment for those at risk.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Connecticut Sch of Med/dnt NIH-funded |
| Lab location | 1 site (Farmington, United States) |
| Project ID | NIH-10814368 on NIH RePORTER |
What this research studies
This research focuses on Lynch syndrome, a hereditary condition that increases the risk of several cancers, including colorectal and endometrial cancers. It aims to clarify the impact of genetic variations of uncertain significance found in DNA mismatch repair genes, which complicate diagnosis and management. By utilizing human pluripotent stem cells and CRISPR-Cas9 gene editing, the study will assess how these genetic variants affect protein function and contribute to cancer risk. This approach allows for a more accurate understanding of the genetic factors involved in Lynch syndrome.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with a family history of Lynch syndrome or those who have been identified with genetic variants of uncertain significance in MMR genes.
Not a fit: Patients without a family history of Lynch syndrome or those who do not carry any genetic variants of uncertain significance may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic methods and management strategies for patients with Lynch syndrome.
How similar studies have performed: Previous research has shown promise in using stem cells and gene editing techniques to study genetic variants, indicating that this approach could yield valuable insights.
Where this research is happening
Farmington, United States
- University of Connecticut Sch of Med/dnt — Farmington, United States (Active)
Researchers
- Principal investigator: Heinen, Christopher D. — University of Connecticut Sch of Med/dnt
- Study coordinator: Heinen, Christopher D.
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.