Spots Global Cancer Trial Database for Sequencing to Identify Gene Variants in Familial Colorectal Cancer

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Trial Identification

Brief Title: Sequencing to Identify Gene Variants in Familial Colorectal Cancer

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

Study ID: NCT01904630

Conditions

Colorectal Cancer

Interventions

gene sequencing

Study Description

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 Description: Participants will be from a specific family, and will be selected by invitation to volunteer.