NCT01904630

Sequencing to Identify Gene Variants in Familial Colorectal Cancer

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 14 (actual)
• Sponsor: Norwegian University of Science and Technology · Academic / Other
• Sex: All
• Age: 20 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Colorectal Cancer

Interventions

Type	Name	Description
GENETIC	gene sequencing	Gene sequencing by exome capture and high throughput sequencing for identification of rare variants

Timeline

• Start date: 2012-12-01
• Primary completion: 2016-06-01
• Completion: 2016-06-01
• First posted: 2013-07-22
• Last updated: 2016-07-14

Locations

1 site across 1 country: Norway