Lynch Syndrome Integrative Epidemiology and Genetics (LINEAGE)

University of Colorado Denver (CU Denver)

Status: Enrolling

Conditions: Lynch Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT06582914

24-0163

Details and patient eligibility

About

The vision of the "Lynch syndrome INtegrative Epidemiology And GEnetics" (LINEAGE) Consortium is to collaboratively improve the lives and longevity of individuals and families with Lynch syndrome.

The mission of the LINEAGE Consortium is to collaboratively improve Lynch syndrome care through high-quality research. This consortium will provide intellectual and infrastructure support to facilitate development of research questions, collection of standardized data and biospecimens, support of grant applications, and generation of collaborative manuscripts.

Our aims are to:

I. Establish a prospective cohort of individuals with Lynch syndrome II. Collect standardized longitudinal clinical and biosample data to elucidate Lynch Syndrome epidemiology and gene-host interactions III. Promote intervention trials to improve cancer prevention and early detection in Lynch Syndrome

Full description

The main objective of this consortium is to build a shared resource to drive research in critical areas necessary to understand LS-related neoplasia risk and improve early detection and prevention of LS-associated cancers. This consortium will provide intellectual and infrastructure support to facilitate development of research questions, collection of standardized clinical data and biospecimens, support grant applications, and generate collaborative manuscripts.

Data and samples collected for LINEAGE will allow the consortium to address a variety of topic areas including but not limited to:

I. Risk of prevalent and incident colorectal neoplasia among PV/LPV carriers. II. Estimate risk of prevalent and incident extra-colonic neoplasm among PV/LPV carriers.

III. Characterization of post-colonoscopy colorectal cancer among PV/LPV carriers.

IV. Risk factors for prevalent and incident neoplasia.

The LINEAGE Consortium is an observational prospective cohort study, with baseline and annual electronic health record (EHR) abstraction, and electronic participant and provider surveys. The consortium may also collect single or serial biosamples from identified and enrolled LS patients at participating centers.

Enrollment: 5,000 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

5,000 participants in 1 patient group

Pateints with a germline variant in a mismatch repair gene

Description:

Individuals with germline genetic testing results showing a pathogenic, likely pathogenic or variant of uncertain significance in MLH1, MSH2, MSH6, PMS2 or EPCAM.