Studies how immune surveillance affects colorectal cancer in Lynch syndrome
Observes immune activity in the bowel lining of adults with Lynch syndrome.
Plain-language title generated from the registry record
Registry title: Lynch Syndrome X-Talk of Enteral Mucosa With Immune System
Key facts
- Where
- Cagliari, Milan, and Palermo, ItalySee the 4 sites
Where in Italy
- Chirurgia Generale, Azienda Ospedaliero Universitaria di CagliariCagliari, ItalyTaking people
- Dipartimento di Chirurgia Oncologica e Dipartimento di Oncologia Sperimentale Istituto Nazionale TumoriMilan, ItalyTaking people
- Gastronterology and Gastrointestinal Endoscopy Unit, IRCCS San Raffaele HospitalMilan, ItalyTaking people
- Dipartimento di controllo qualità e rischio chimico biologico, AOOR Villa Sofia CervelloPalermo, ItalyTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- San Raffaele University
- Trial code
- NCT06708429
- Record updated
- 24 April 2026
- Original description
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.Read full original descriptionShow less
Impact of Immune-surveillance on the Development of Colorectal Cancer in Patients With Lynch Syndrome
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.
Inclusion: Age ≥18 years; All sexes eligible; Established diagnosis of Lynch syndrome performed as part of clinical practice, with a germline pathogenic/likely pathogenic variant in one of the following genes: MLH1, MSH2, MSH6, PMS2, and EpCAM; Subjects with Lynch syndrome undergoing surveillance gastrointestinal endoscopy and/or surgery according to clinical practice; Fertile patients (both males and females) are eligible; Lactating women are eligible; Age ≥18 years; All sexes eligible; Patients with sporadic colorectal lesions, including colorectal cancer and colorectal adenomas; Healthy controls without colorectal cancer or adenomas undergoing lower gastrointestinal endoscopy for abdominal pain; PREMM5 < 2.5 [PREMM5 is an online, free-to-use, clinical prediction algorithm that estimates the cumulative probability of an individual carrying a germline mutation in the mismatch repair genes responsible for Lynch syndrome].
Exclusion: Diseases that are known to predispose to colorectal cancer (personal past or recent history of inflammatory bowel disease); Age < 18 years; Patients unable/unwilling to provide consent; Pregnancy.