Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis Syndromes

The purpose of this study is to understand the role bacteria that normally live in the colon may play in colorectal cancer risk, in addition to the hereditary risk to colorectal cancer. The investigators will collect stool specimens as well as additional colon biopsy specimens during the patient's scheduled colonoscopy procedure. The investigators will also collect a questionnaire about diet and lifestyle. The samples will be used to study the impact of diet on naturally-occurring oral and gut bacteria and their influences on human health including risk of cancer.

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Key information

Conditions

Lynch Syndrome Colonic Diseases Colorectal Neoplasms Colorectal Neoplasms, Hereditary Nonpolyposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Digestive System Diseases Digestive System Neoplasms Gastrointestinal Diseases Gastrointestinal Neoplasms Genetic Diseases, Inborn Hereditary Colonic Polyposis Syndromes Intestinal Diseases Intestinal Neoplasms Metabolic Diseases Neoplasms Neoplasms by Site Neoplastic Syndromes, Hereditary Nutritional and Metabolic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Memorial Sloan Kettering Cancer Center

New York, 10065, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Male or Female age 18 or older
Hereditary colorectal cancer syndrome with one of the following:

Lynch syndrome, as defined by the presence of a deleterious germline mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM genes
Other hereditary colonic polyposis syndromes, as defined by the presence of a deleterious germline mutation in any one of the following polyposis genes (APC, biallelic MYH, STK11, SMAD4, BMPR1A, or other CRC-risk associated genes at discretion of PI)

Exclusion criteria

Unable to provide informed consent for testing
Unable to complete English language questionnaire
Receiving active chemotherapy
Having completed active chemotherapy less then 12 months prior to day of scheduled lower endoscopy
No infectious or drug induced colitis less then 12 months prior to day of scheduled lower endoscopy
No history of inflammatory colitis (Crohn's disease or ulcerative colitis)

Treatment and study plan

colonic biopsies

Genetic

questionnaires

Genetic

Primary outcomes

association of the gut microbiome and dietary factors (To validate said associations, individual questions from the Brief Diet and Lifestyle Questionnaire will be primarily used in the overall analyses)

Time frame: 2 years

with risk of adenoma or cancer in Lynch syndrome and other hereditary colonic polyposis syndrome patients. To validate said associations, individual questions from the Brief Diet and Lifestyle Questionnaire will be primarily used in the overall analyses.

Sponsors and collaborators

Lead sponsor

Memorial Sloan Kettering Cancer Center

Other

Collaborators

Broad Institute of MIT and Harvard
Harvard University

Registry information

Important dates

Study start: 2015
Primary completion: 2027
Study completion: 2027
First posted: Feb 25, 2015
Registry last updated: Feb 5, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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