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Lynch Syndrome X-Talk of Enteral Mucosa With Immune System

Impact of Immune-surveillance on the Development of Colorectal Cancer in Patients With Lynch Syndrome

Who can join

As published by the study on ClinicalTrials.gov. "Not stated" means the study hasn't said — ask the study team.

Age
18 Years and older
Sex
All sexes
Healthy volunteers
Not stated
Compensation
Not stated

Other requirements are listed under Eligibility below. Only the study team can confirm whether you can join.

What to expect

No one can promise a trial will help you personally — that is what the research is trying to find out.

What participation involves

Not stated in the study description — ask the study team about visits and procedures.

Compensation
Not stated
  • Study-related exams and procedures are typically provided at no cost. This is how many trials work in general — confirm the details for this study with the study team.
  • Participants are monitored closely by the research team throughout the study.
  • Some participants may receive access to an investigational treatment, which is still being studied.
  • Your participation helps researchers learn whether this approach could help future patients.

About this study

In plain language

This study looks at how the gut lining and immune system interact in Lynch syndrome, an inherited condition that raises cancer risk. It includes adults with Lynch syndrome and adults without it, including some with colon or rectal growths.

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.

Compensation is read from the study's own description and may be missing — always confirm with the study team.

Eligibility

Who can join

  • Age 18 or older; all sexes are eligible.
  • For the Lynch syndrome group: a confirmed inherited change that causes or likely causes disease in MLH1, MSH2, MSH6, PMS2, or EpCAM.
  • For the Lynch syndrome group: having routine gut checks with a scope and/or surgery.
  • People with Lynch syndrome who can have children or are breastfeeding may join.
  • For the group without Lynch syndrome: colon or rectal growths not linked to an inherited condition, including cancer or adenomas (polyps).
  • Healthy comparison participants: no colon or rectal cancer or adenomas, and having a lower gut scope exam for belly pain.
  • For the group without Lynch syndrome: a PREMM5 score below 2.5. This tool estimates the chance of an inherited gene change linked to Lynch syndrome.

Who can't join

  • Younger than 18.
  • A condition known to raise colon or rectal cancer risk, including past or current inflammatory bowel disease (long-term swelling in the gut).
  • Unable or unwilling to give consent to join.
  • Pregnant.

Simplified for readability. The official criteria below are what the study team uses.

Official eligibility criteria

Inclusion Criteria (for participants with Lynch syndrome): * 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 Inclusion Criteria (for participants without Lynch syndrome): * 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 Criteria (for participants with or without Lynch syndrome): * Age \< 18 years; * Diseases that are known to predispose to colorectal cancer (personal past or recent history of inflammatory bowel disease); * Patients unable/unwilling to provide consent; * Pregnancy

Study sites (1)

CA