Sequencing to Identify Gene Variants in Familial Colorectal Cancer

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

• Status: Completed
• Conditions: Colorectal Cancer
• Intervention / Treatment: Genetic: gene sequencing

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

Study Locations

• Norway
  • Trondheim, Norway
    • St Olavs Hospital

Participation Criteria

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

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Norwegian University of Science and Technology
• Collaborators: St. Olavs Hospital
• Investigators: Principal Investigator: Finn Drabløs, PhD/Prof, Norwegian University of Science and Technology

Publications and helpful links

General Publications

• Hansen MF, Johansen J, Bjornevoll I, Sylvander AE, Steinsbekk KS, Saetrom P, Sandvik AK, Drablos 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/s10689-015-9803-2.

Study record dates

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: risk factors; familial; gene sequencing
• Additional Relevant MeSH Terms: Digestive System Diseases; Neoplasms; Neoplasms by Site; Gastrointestinal Neoplasms; Digestive System Neoplasms; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Intestinal Neoplasms; Rectal Diseases; Colorectal Neoplasms
• Other Study ID Numbers: 2012/1707