Actively Recruiting

Age: 18Years +
All Genders
ID06708429

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

Led by San Raffaele University · Updated on 2026-04-24

300

Participants Needed

5

Research Sites

52 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

Lynch syndrome is a common inherited condition that increases the risk of colorectal and endometrial cancers, among others, due to genetic mutations affecting DNA repair. Despite regular cancer screenings, many patients still develop colorectal cancer, and the reasons behind this are unclear. This research investigates the interaction between the intestinal lining and the immune system to better understand early cancer development and identify biological markers and processes that may help in prevention. The study analyzes blood, mucosal tissue, and hair samples to measure microRNAs, antibodies against specific peptides, bacteria present in colon tissue, and environmental exposures to carcinogens. Participants include groups with Lynch syndrome gene mutations both with and without colorectal cancer or advanced adenomas, as well as individuals without these mutations but with various colorectal conditions. This observational study looks at immune and microbiome profiles to find early signs of cancer and better understand disease mechanisms. Participants will undergo regular clinical evaluations, including gastrointestinal endoscopy and sample collection of blood, mucosa, and hair. Researchers will assess immune responses, tumor microbiomes, and environmental factors, measuring outcomes such as sensitivity and specificity of biomarkers over about one year. The study aims to improve early cancer detection and prevention strategies by closely monitoring biological indicators and immune surveillance in high-risk individuals.

CONDITIONS

Brief Title

Lynch Syndrome X-Talk of Enteral Mucosa With Immune System

Who Can Participate

Age: 18Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Age 18 years or older
  • All sexes eligible
  • Confirmed diagnosis of Lynch syndrome with a germline pathogenic variant in MLH1, MSH2, MSH6, PMS2, or EpCAM genes
  • Undergoing surveillance gastrointestinal endoscopy and/or surgery according to clinical practice
  • Fertile patients, both males and females, are eligible
  • Lactating women are eligible
  • Patients without Lynch syndrome aged 18 years or older
  • Patients with sporadic colorectal lesions including colorectal cancer and adenomas
  • Healthy controls without colorectal cancer or adenomas undergoing lower gastrointestinal endoscopy for abdominal pain
  • PREMM5 score less than 2.5
Not Eligible

You will not qualify if you...

  • Age under 18 years
  • Personal past or recent history of inflammatory bowel disease
  • Unable or unwilling to provide consent
  • Pregnancy

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - Up to 1 year

Participants undergo a combination of blood-based, mucosal-based, and hair-based analyses to evaluate early biomarkers and biological signatures related to colorectal cancer risk in Lynch syndrome, including microRNA expression, anti-frame-shift peptide antibodies, mucosal-resident bacteria, and environmental exposure to potential carcinogens.

Periodic visits as per clinical practice during surveillance gastrointestinal endoscopy and/or surgery

Long-term Monitoring

Duration - Up to 1 year

Participants are observed over time to monitor biomarkers, tumor microbiome, immuno-environmental signatures, and exposure analysis to understand early cancer development and risk in Lynch syndrome.

Follow-up visits aligned with routine surveillance endoscopy and clinical care

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

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Research Team

G

Giulia Martina Cavestro, MD, PhD

A

Alessandro Mannucci, MD

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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Published Research Related To This Trial

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

Sigurdis Haraldsdottir, Thorunn Rafnar, Wendy L Frankel...

https://pubmed.ncbi.nlm.nih.gov/28466842

No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.

Christoph Engel, Hans F Vasen, Toni Seppälä...

https://pubmed.ncbi.nlm.nih.gov/30063918

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.

Pål Møller, Toni Seppälä, Inge Bernstein...

https://pubmed.ncbi.nlm.nih.gov/26657901

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report.

Toni Seppälä, Kirsi Pylvänäinen, Dafydd Gareth Evans...

https://pubmed.ncbi.nlm.nih.gov/29046738