UPCC 14223 Lynch syndrome mucosal Immune and MicroBiOme initiative
Enrolling By Invitation
99 years or below
All
100 participants needed
1 Location
Brief description of study
Lynch syndrome (LS) is a cancer predisposition syndrome that results from a pathogenic germline mutation in one of five genes, including MLH1, MSH2, MSH6, PMS2, and EPCAM, which are involved in DNA mismatch repair (MMR). Individuals with Lynch syndrome develop cancer at a substantially higher rate than individuals without LS due to their defective DNA MMR system. The increased mutation rate, as well as the increased immune enrichment in precancerous lesions in these individuals even in the absence of increased mutational rate, may ultimately place increased strain on immune surveillance for cancer. Moreover, the impact of germline DNA MMR dysfunction in LS on lymphocyte and other immune features is poorly characterized, as is the role of the microbiome in this population. Better characterization of immune health and microbiome in Lynch syndrome may ultimately have important future implications for cancer therapy and prevention. Our goal is to characterize the immune profile and microbiome/metabolome of individuals with Lynch syndrome and create a longitudinal biobank of colonic mucosa and stool samples from individuals with Lynch syndrome.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
