Structure of the Mucosal and Stool Microbiome in Lynch Syndrome

Male and female adult (18 years of age or older) patients (n=100) with a diagnosis of Lynch syndrome presenting to the Center for Cancer Risk Assessment and Division of Gastroenterology at Massachusetts General Hospital (MGH), the Clinical Genetics Service at Memorial Sloan Kettering Cancer Center (MSKCC) or Gastroenterology Service at Memorial Sloan Kettering Cancer Center were invited to participate in the study by a study physician. Prospective participants were contacted via mail, email, or telephone by a study coordinator and recruited to the study prior to undergoing a scheduled routine annual or semi-annual screening/surveillance lower endoscopy (sigmoidoscopy or colonoscopy) at MGH or MSKCC. All adult patients with a diagnosis of Lynch syndrome, defined as the presence of a pathogenic or likely pathogenic germline mutation in one of the DNA mismatch repair genes, were considered eligible for participation. All participants provided informed written consent prior to undergoing any study related procedures or sample processing. All study related procedures were approved by the Institutional Review Boards of Partners Healthcare/MGH (Protocol #2013P002520) and MSKCC (Protocol #15–016). ]]>