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.

Study Overview

• Status: Active, not recruiting
• Conditions: Lynch Syndrome; Hereditary Colonic Polyposis Syndromes
• Intervention / Treatment: Genetic: colonic biopsies; Genetic: questionnaires

• Study Type: Observational
• Enrollment (Actual): 77

Contacts and Locations

Study Locations

• United States
  • New York
    • New York, New York, United States, 10065
      • Memorial Sloan Kettering Cancer Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Potential research subjects will be identified prospectively within the clinics of the Clinical Genetics and Gastroenterology Services, of MSKCC.

Description

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)

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

patients having lower endoscopy; At least 2 weeks prior to scheduled lower endoscopy, consented study participants will be mailed a Brief Diet and Lifestyle Questionnaire, a stool collection kit with detailed instructions and a Stool Collection Data Sheet. No more than one week prior to the lower endoscopy but prior to initiation of bowel preparation, the consented participants will provide a stool specimen and fill out the two questionnaires. The routine lower endoscopy will be performed according to routine clinical procedures. Clinical biopsies of suspicious areas and/or lesions will be taken as per standard clinical care with all such tissue samples sent to pathology for routine clinical analysis. For the sole purposes of research, at the routine lower endoscopy, up to 8 additional colonic biopsies will be taken from normal appearing colon mucosa

Genetic: colonic biopsies; Genetic: questionnaires

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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)	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.	2 years

Collaborators and Investigators

• Sponsor: Memorial Sloan Kettering Cancer Center
• Collaborators: Harvard University; Broad Institute of MIT and Harvard
• Investigators: Principal Investigator: Zsofia Stadler, MD, Memorial Sloan Kettering Cancer Center

Publications and helpful links

Helpful Links

• Memorial Sloan Kettering Cancer Center

Study record dates

Study Major Dates

• Study Start (Actual): February 1, 2015
• Primary Completion (Estimated): February 1, 2027
• Study Completion (Estimated): February 1, 2027

Study Registration Dates

• First Submitted: February 19, 2015
• First Submitted That Met QC Criteria: February 24, 2015
• First Posted (Estimated): February 25, 2015

Study Record Updates

• Last Update Posted (Actual): February 5, 2026
• Last Update Submitted That Met QC Criteria: February 3, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: Gut Microbiome; 15-016
• Additional Relevant MeSH Terms: Neoplasms by Site; Neoplasms; Genetic Diseases, Inborn; Metabolic Diseases; Intestinal Diseases; Gastrointestinal Neoplasms; Digestive System Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colorectal Neoplasms; Intestinal Neoplasms; Colonic Diseases; Neoplastic Syndromes, Hereditary; DNA Repair-Deficiency Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Colorectal Neoplasms, Hereditary Nonpolyposis; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Data Collection; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Surveys and Questionnaires
• Other Study ID Numbers: 15-016