Lynch Syndrome X-Talk of Enteral Mucosa With Immune System

Launched by SAN RAFFAELE UNIVERSITY · Nov 25, 2024

Keywords

ClinConnect Summary

This clinical trial is studying Lynch syndrome, a genetic condition that increases the risk of several types of cancer, especially colorectal and endometrial cancers. Researchers want to understand how the immune system interacts with the tissues in the intestines of people with Lynch syndrome. They hope this will help them find better ways to prevent cancer in these patients, especially since many still develop cancer even when they closely follow regular check-ups and screenings.

To participate in this trial, you need to be at least 18 years old and diagnosed with Lynch syndrome, which means you have a specific genetic mutation related to this condition. Those without Lynch syndrome can also join if they have certain types of colorectal issues or are healthy individuals undergoing medical checks. Participants will undergo evaluations and may be involved in procedures to help researchers gather important information. This trial is currently recruiting participants, so if you or a loved one meet the criteria, it might be a good opportunity to contribute to important cancer research.

Gender

ALL

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