Sequencing to Identify Gene Variants in Familial Colorectal Cancer

NCT01904630 | Completed

• 1 other identifier: 2012/1707
• Study Type: observational
• Target: 14
• Locations: 1 country
• Sites: 1

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.

Conditions

Colorectal Cancer

Keywords

gene sequencing; familial; risk factors

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

CRC high risk

Participants belong to a family with increased risk for CRC, will be analyzed with gene sequencing

Genetic: gene sequencing

Interventions

gene sequencing GENETIC

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

CRC high risk

Eligibility Criteria

• Age: 20 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

A specific family showing increased risk for CRC

You may qualify if:

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

You may not qualify if:

• Young age

Sponsors & Collaborators

• Norwegian University of Science and Technology: lead
• St. Olavs Hospital: collaborator

Study Sites (1)

St Olavs Hospital

Trondheim, Norway

Location

Related Publications (1)

• 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.

  PMID: 25860647 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples for DNA sequencing

MeSH Terms

Conditions

Colorectal Neoplasms

Interventions

Base Sequence

Condition Hierarchy (Ancestors)

Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Rectal Diseases

Intervention Hierarchy (Ancestors)

Molecular Structure; Biochemical Phenomena; Chemical Phenomena; Genetic Structures; Genetic Phenomena

Study Officials

• Finn Drabløs, PhD/Prof

  Norwegian University of Science and Technology

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 23, 2013
• First Posted: July 22, 2013
• Study Start: December 1, 2012
• Primary Completion: June 1, 2016
• Study Completion: June 1, 2016
• Last Updated: July 14, 2016

Record last verified: 2016-07

Locations

NO (1)