Sequencing to Identify Gene Variants in Familial Colorectal Cancer

Norwegian University of Science and Technology

Status: Completed

Conditions: Colorectal Cancer

Treatments: Genetic: gene sequencing

Study type: Observational

Funder types: Other

Identifiers

NCT01904630

2012/1707

Details and patient eligibility

About

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.

Full description

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

Enrollment: 14 patients

Sex: All

Ages: 20+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

• Young age

Trial design

14 participants in 1 patient group

CRC high risk

Description:

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

Treatment:

Genetic: gene sequencing