Participate in Research at CU Anschutz

Adult

Inclusion Criteria • Adults age over 18 years • Eligible patients must have at least one variant of uncertain significance (VUS), pathogenic or likely pathogenic variant (PV/LPV) in MLH1, MSH2, MSH6, PMS2, or EPCAM, which will be confirmed by genetic testing results (obtained as part of routine care) and a review of the variant in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/). • Individuals who are an obligate carrier of a LS PV/LPV that is confirmed in the family. Exclusion Criteria Age under 18 Endoscopists- The study will also recruit endoscopists who performs procedures such as colonoscopies and endoscopies. The endoscopist will provide demographics information such as age and gender, information regarding your terminal degree, your primary practice location, and number of endoscopy procedures performed annually. The study will accrue subjects with a pathogenic or likely pathogenic variant in MLH1, MSH2, MSH6, PMS2 or EPCAM. We anticipate that up to 15,000 subjects (across all participating sites) will be evaluated for participation in the study over a period of at least 20 years in order to be sufficiently powered to assess lifetime cancer risks by genotype and factors associated with cancer incidence and mortality. This sample size takes into consideration differential cancer risk based on genotype, known prevalence of each genotype, and variable participation rates at each site.