Actively Recruiting
Lynch Syndrome X-Talk of Enteral Mucosa With Immune System
Led by San Raffaele University · Updated on 2026-04-24
300
Participants Needed
5
Research Sites
574 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Lynch syndrome (OMIM #120435) is the most common dominantly inherited colorectal cancer syndrome with an estimated prevalence of 1:270 individuals. It increases the lifetime risk of colorectal and endometrial cancer primarily, but it is associated with a high risk of other cancers (pancreas, stomach, ovarian, central nervous system, skin, among others). It is caused by a germline mutation in one of four DNA mismatch repair genes or a terminal deletion of the MSH2-adjacent gene EpCAM. Despite adherence to cancer surveillance programs, many patients still develop colorectal cancer and endometrial cancer. The Prospective Lynch Syndrome Database (PLSD) suggests that more frequent surveillance intervals do not significantly improve cancer risk reduction. The PLSD also revealed that the incidence of colorectal cancer in MLH1 and MSH2 carriers was even higher than previously expected, reaching as high as 41-36% among MLH1 carriers, regardless of ethnic background. The development of colorectal cancer despite surveillance is an unresolved question. Therefore, there is an unmet need for effective cancer prevention strategies.
CONDITIONS
Official Title
Lynch Syndrome X-Talk of Enteral Mucosa With Immune System
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 18 years or older
- All sexes eligible
- Confirmed diagnosis of Lynch syndrome with a germline pathogenic or likely pathogenic variant in MLH1, MSH2, MSH6, PMS2, or EpCAM genes
- Undergoing surveillance gastrointestinal endoscopy and/or surgery according to clinical practice
- Fertile patients are eligible
- Lactating women are eligible
- Patients without Lynch syndrome who are 18 years or older
- Patients with sporadic colorectal lesions including cancer and adenomas
- Healthy controls without colorectal cancer or adenomas undergoing lower gastrointestinal endoscopy for abdominal pain
- PREMM5 score less than 2.5
You will not qualify if you...
- Under 18 years of age
- Having diseases known to increase colorectal cancer risk, such as inflammatory bowel disease
- Unable or unwilling to provide consent
- Pregnant
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 5 locations
1
Beckman Research Institute at City of Hope
Monrovia, California, United States, 91016
Actively Recruiting
2
Gastronterology and Gastrointestinal Endoscopy Unit, IRCCS San Raffaele Hospital
Milan, Lombardy, Italy, 20132
Actively Recruiting
3
Dipartimento di Chirurgia Oncologica e Dipartimento di Oncologia Sperimentale Istituto Nazionale Tumori
Milan, MI, Italy
Actively Recruiting
4
Dipartimento di controllo qualità e rischio chimico biologico, AOOR Villa Sofia Cervello
Palermo, PM, Italy
Actively Recruiting
5
Chirurgia Generale, Azienda Ospedaliero Universitaria di Cagliari
Cagliari, Italy
Actively Recruiting
Research Team
G
Giulia Martina Cavestro, MD, PhD
CONTACT
A
Alessandro Mannucci, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
14
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