Lynch Syndrome X-Talk of Enteral Mucosa With Immune System

Summary

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

• Lynch Syndrome
• Lynch Syndrome I
• Lynch Syndrome II
• Lynch Syndrome I (Site-specific Colonic Cancer)
• HNPCC
• HNPCC Gene Mutation
• Hereditary Cancer Syndrome
• Hereditary Cancer
• MLH1 Gene Mutation
• MLH1 Gene Deletion+Duplication
• MLH1 Loss of Expression
• MLH1 Gene Inactivation
• MSH2 Gene Mutation
• MSH2 Gene Deletion+Duplication
• MSH2 Loss of Expression
• MSH2 Gene Inactivation
• MSH6 Gene Mutation
• MSH6 Loss of Expression
• MSH6 Gene Inactivation
• PMS2 Gene Mutation
• PMS2 Gene Inactivation
• PMS2 Loss of Expression

Interventions

DIAGNOSTIC_TEST

LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)

A combination of blood-based, mucosal-based, and hair-based analyses that evaluate the presence and the expression of: * a set of microRNAs (blood) * antibodies anti-frame shift peptides (blood) * mucosal-resident bacteria (healthy mucosa and cancer) * environmental exposure to potential carcinogens (hair matrix)

Sponsors & Collaborators

• San Raffaele University

  lead OTHER

Principal Investigators

• Giulia Martina Cavestro, MD, PhD · IRCCS San Raffaele Scientific Institute

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2023-06-01

Primary Completion

2033-06-01

Completion

2034-06-01

Countries

• United States
• Italy

Study Locations