Sequencing to Identify Gene Variants in Familial Colorectal Cancer

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01904630

Enrollment

Registered

2013-07-22

Start date

2012-12-31

Completion date

2016-06-30

Last updated

2016-07-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Colorectal Cancer

Keywords

gene sequencing, familial, risk factors

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.

Detailed description

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

Interventions

GENETICgene sequencing

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

Study design

Observational model

FAMILY_BASED

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

20 Years to No maximum

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

Design outcomes

Primary

Measure	Time frame	Description
Data on association between sequence variants in exons and CRC risk	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.

Countries

Norway

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026