Sequencing to Identify Gene Variants in Familial Colorectal Cancer

Completed

• Conditions: Colorectal Cancer
• Interventions: Genetic: gene sequencing

• Registration Number: NCT01904630
• Lead Sponsor: Norwegian University of Science and Technology

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.

Study Timeline

• Study Start: 2012-12
• Study First Submitted: 2013-04-23
• Study First Submitted QC: 2013-07-17
• Study First Posted: 2013-07-22
• Primary Completion: 2016-06
• Study Completion: 2016-06
• Status Verified: 2016-07
• Last Update Submitted: 2016-07-13
• Last Update Posted: 2016-07-14

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 14

Inclusion Criteria

• Member of a specific family with increased risk of CRC, including individuals both with and without CRC

Exclusion Criteria

• Young age

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
CRC high risk	gene sequencing	Participants belong to a family with increased risk for CRC, will be analyzed with gene sequencing

Primary Outcome Measures

Name	Time	Method
Data on association between sequence variants in exons and CRC risk	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.

Trial Locations

Locations (1)

St Olavs Hospital; 🇳🇴 Trondheim, Norway