Sequencing to Identify Gene Variants in Familial Colorectal Cancer
July 13, 2016 updated by: Norwegian University of Science and Technology
Exom-sekvensering for å Identifisere høyrisiko Genvarianter i en Familie Predisponert for Colorectal Cancer
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.
Study Overview
Detailed Description
Participants will be from a specific family, and will be selected by invitation to volunteer.
Study Type
Observational
Enrollment (Actual)
14
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
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Trondheim, Norway
- St Olavs Hospital
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
20 years and older (Adult, Older Adult)
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
Sampling Method
Non-Probability Sample
Study Population
A specific family showing increased risk for CRC
Description
Inclusion Criteria:
- Member of a specific family with increased risk of CRC, including individuals both with and without CRC
Exclusion Criteria:
- Young age
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
|---|---|
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CRC high risk
Participants belong to a family with increased risk for CRC, will be analyzed with gene sequencing
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Gene sequencing by exome capture and high throughput sequencing for identification of rare variants
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
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Data on association between sequence variants in exons and CRC risk
Time Frame: Data available within 18 months after recruitment completed
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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.
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Data available within 18 months after recruitment completed
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Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Collaborators
Investigators
- Principal Investigator: Finn Drabløs, PhD/Prof, Norwegian University of Science and Technology
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start
December 1, 2012
Primary Completion (Actual)
June 1, 2016
Study Completion (Actual)
June 1, 2016
Study Registration Dates
First Submitted
April 23, 2013
First Submitted That Met QC Criteria
July 17, 2013
First Posted (Estimate)
July 22, 2013
Study Record Updates
Last Update Posted (Estimate)
July 14, 2016
Last Update Submitted That Met QC Criteria
July 13, 2016
Last Verified
July 1, 2016
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 2012/1707
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.