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OpenTrials
Completed

NCT Number: NCT01904630

Sequencing to Identify Gene Variants in Familial 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.

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Key information

Conditions

Colorectal Cancer Colonic Diseases Colorectal Neoplasms Digestive System Diseases Digestive System Neoplasms Gastrointestinal Diseases Gastrointestinal Neoplasms Intestinal Diseases Intestinal Neoplasms Neoplasms Neoplasms by Site Rectal Diseases

Age range

20 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

St Olavs Hospital

Trondheim, Norway

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

  • Young age

Treatment and study plan

gene sequencing

Genetic

Gene sequencing by exome capture and high throughput sequencing for identification of rare variants

Primary outcomes

  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.

Sponsors and collaborators

Lead sponsor

Norwegian University of Science and Technology

Other

Collaborators

  • St. Olavs Hospital

Registry information

Official study title

Exom-sekvensering for å Identifisere høyrisiko Genvarianter i en Familie Predisponert for Colorectal Cancer

Important dates

Study start
2012
Primary completion
2016
Study completion
2016
First posted
Jul 22, 2013
Registry last updated
Jul 14, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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