Sequencing to Identify Gene Variants in Familial Colorectal Cancer

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2014 by Norwegian University of Science and Technology
St. Olavs Hospital
Information provided by (Responsible Party):
Norwegian University of Science and Technology Identifier:
First received: April 23, 2013
Last updated: July 21, 2014
Last verified: July 2014

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.

Condition Intervention
Colorectal Cancer
Genetic: gene sequencing

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Exom-sekvensering for å Identifisere høyrisiko Genvarianter i en Familie Predisponert for Colorectal Cancer

Resource links provided by NLM:

Further study details as provided by Norwegian University of Science and Technology:

Primary Outcome Measures:
  • Data on association between sequence variants in exons and CRC risk [ Time Frame: Data available within 18 months after recruitment completed ] [ Designated as safety issue: No ]
    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.

Biospecimen Retention:   Samples With DNA

Blood samples for DNA sequencing

Estimated Enrollment: 10
Study Start Date: December 2012
Estimated Study Completion Date: June 2016
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
CRC high risk
Participants belong to a family with increased risk for CRC, will be analyzed with gene sequencing
Genetic: gene sequencing
Gene sequencing by exome capture and high throughput sequencing for identification of rare variants

Detailed Description:

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


Ages Eligible for Study:   20 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

A specific family showing increased risk for CRC


Inclusion Criteria:

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

Exclusion Criteria:

  • Young age
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01904630

Contact: Finn Drabløs, PhD / Prof

St Olavs Hospital Recruiting
Trondheim, Norway
Contact: Finn Drabløs, PhD         
Sponsors and Collaborators
Norwegian University of Science and Technology
St. Olavs Hospital
Principal Investigator: Finn Drabløs, PhD/Prof Norwegian University of Science and Technology
  More Information

No publications provided

Responsible Party: Norwegian University of Science and Technology Identifier: NCT01904630     History of Changes
Other Study ID Numbers: 2012/1707
Study First Received: April 23, 2013
Last Updated: July 21, 2014
Health Authority: Norway:National Committee for Medical and Health Research Ethics

Keywords provided by Norwegian University of Science and Technology:
gene sequencing
risk factors

Additional relevant MeSH terms:
Colorectal Neoplasms
Colonic Diseases
Digestive System Diseases
Digestive System Neoplasms
Gastrointestinal Diseases
Gastrointestinal Neoplasms
Intestinal Diseases
Intestinal Neoplasms
Neoplasms by Site
Rectal Diseases processed this record on October 23, 2014