Clinical Trial: Sequencing to Identify Gene Variants in Familial Colorectal Cancer

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Exom-sekvensering for å Identifisere høyrisiko Genvarianter i en Familie Predisponert for Colorectal Cancer

Brief Summary: The project will use exome sequencing to search for genetic predispositions for familial colorectal cancer (CRC). Except for certain syndromes there is today no good method for identifying individuals with a hereditary high risk for CRC (about 25% of the cases). There is currently no routine screening of the population in Norway for CRC today. Coloscopy, which is the most reliable method, is demanding with respect to resources, it can be painful, and may have complications. This project will attempt to find genetic determinants for identification of individuals with increased risk for familial CRC. Such methods will reduce unnecessary medical examination of unaffected family members, and will make it easier to focus health services on individuals with increased risk. This will represent a significant contribution towards improved health reduced death rate caused by CRC. The project includes research on the ethical aspects, in particular challenges related to how feedback to donors is handled.

Detailed Summary: Participants will be from a specific family, and will be selected by invitation to volunteer.
Sponsor: Norwegian University of Science and Technology

Current Primary Outcome: Data on association between sequence variants in exons and CRC risk [ Time Frame: Data available within 18 months after recruitment completed ]

For each participant the genome will be analyzed by exome capture and high throughput sequencing. The exome data will be compared between participants and to reference data for identification of unique variants that can be associated with disease risk.


Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Norwegian University of Science and Technology

Dates:
Date Received: April 23, 2013
Date Started: December 2012
Date Completion:
Last Updated: July 13, 2016
Last Verified: July 2016