Sequencing to Identify Gene Variants in Familial Colorectal Cancer

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01904630
Recruitment Status : Completed
First Posted : July 22, 2013
Last Update Posted : July 14, 2016
St. Olavs Hospital
Information provided by (Responsible Party):
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.

Condition or disease Intervention/treatment
Colorectal Cancer Genetic: gene sequencing

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

Study Type : Observational
Actual Enrollment : 14 participants
Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Exom-sekvensering for å Identifisere høyrisiko Genvarianter i en Familie Predisponert for Colorectal Cancer
Study Start Date : December 2012
Actual Primary Completion Date : June 2016
Actual Study Completion Date : June 2016

Group/Cohort Intervention/treatment
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

Primary Outcome Measures :
  1. Data on association between sequence variants in exons and CRC risk [ Time Frame: 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.

Biospecimen Retention:   Samples With DNA
Blood samples for DNA sequencing

Information from the National Library of Medicine

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Ages Eligible for Study:   20 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01904630

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

Publications of Results:
Responsible Party: Norwegian University of Science and Technology Identifier: NCT01904630     History of Changes
Other Study ID Numbers: 2012/1707
First Posted: July 22, 2013    Key Record Dates
Last Update Posted: July 14, 2016
Last Verified: July 2016

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

Additional relevant MeSH terms:
Colorectal Neoplasms
Intestinal Neoplasms
Gastrointestinal Neoplasms
Digestive System Neoplasms
Neoplasms by Site
Digestive System Diseases
Gastrointestinal Diseases
Colonic Diseases
Intestinal Diseases
Rectal Diseases