Understanding Inherited Genes in Barrett's Esophagus
Pathogenic Germline Mutations in Barrett's Esophagus
This research aims to discover how inherited gene changes might explain why some people with Barrett's Esophagus develop cancer while others do not.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11161555 on NIH RePORTER |
What this research studies
Esophageal adenocarcinoma is a very serious cancer, and while Barrett's Esophagus is a known precursor, very few people with BE actually develop cancer. We know that changes in certain genes within the tumor itself play a role, but these don't fully explain why some individuals progress. Our work focuses on inherited gene changes, called germline mutations, that people are born with, especially in genes like ATM and BRCA2. We believe these inherited changes might influence the risk of progression and how tumors develop, particularly in cases where other common genetic changes aren't present.
Who could benefit from this research
Good fit: Ideal candidates for future related studies might include adults aged 21 and older with Barrett's Esophagus, especially those with a family history of cancer or known mutations in genes like ATM or BRCA2.
Not a fit: Patients without Barrett's Esophagus or those whose cancer progression is not linked to specific inherited genetic mutations may not directly benefit from this particular line of research.
Why it matters
Potential benefit: If successful, this work could lead to better ways to identify individuals with Barrett's Esophagus who are at higher risk of developing esophageal cancer, allowing for more targeted monitoring and early intervention.
How similar studies have performed: Previous research has extensively characterized genetic changes within Barrett's Esophagus and esophageal cancer, and our preliminary data suggests a strong link between inherited mutations and disease progression.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Gala, Manish — Massachusetts General Hospital
- Study coordinator: Gala, Manish
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.