Sequencing to Identify Gene Variants in Familial Colorectal Cancer

Colorectal Cancer Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01904630
• Other study ID #: 2012/1707
• Status: Completed
• Phase: N/A
• First received: April 23, 2013
• Last updated: July 13, 2016
• Start date: December 2012
• Est. completion date: June 2016

Study information

• Verified date: July 2016
• Source: Norwegian University of Science and Technology
• Contact: n/a
• Is FDA regulated: No
• Health authority: Norway:National Committee for Medical and Health Research Ethics
• Study type: Observational

Clinical Trial 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.

Description:

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 14
• Est. completion date: June 2016
• Est. primary completion date: June 2016
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 20 Years and older

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• Young age

Study Design

Observational Model: Family-Based, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Colorectal Cancer
• Colorectal Neoplasms

Intervention

Genetic:
• gene sequencing
Gene sequencing by exome capture and high throughput sequencing for identification of rare variants

Locations

Country	Name	City	State
Norway	St Olavs Hospital	Trondheim

Sponsors (2)

Lead Sponsor	Collaborator
Norwegian University of Science and Technology	St. Olavs Hospital

Country where clinical trial is conducted

Norway, 

References & Publications (1)

Hansen MF, Johansen J, Bjørnevoll I, Sylvander AE, Steinsbekk KS, Sætrom P, Sandvik AK, Drabløs F, Sjursen W. A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. Fam Cancer. 2015 Sep;14(3):437-48. doi: 10.1007/s1 — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Data on association between sequence variants in exons and CRC risk	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.	Data available within 18 months after recruitment completed	No