Sequencing to Identify Gene Variants in Familial Colorectal Cancer

NCT ID: NCT01904630

Last Updated: 2016-07-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

14 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-12-31

Study Completion Date

2016-06-30

Brief Summary

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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

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

Conditions

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Colorectal Cancer

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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CRC high risk

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

gene sequencing

Intervention Type GENETIC

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

Interventions

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gene sequencing

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

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

* Young age
Minimum Eligible Age

20 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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St. Olavs Hospital

OTHER

Sponsor Role collaborator

Norwegian University of Science and Technology

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Finn Drabløs, PhD/Prof

Role: PRINCIPAL_INVESTIGATOR

Norwegian University of Science and Technology

Locations

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St Olavs Hospital

Trondheim, , Norway

Site Status

Countries

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Norway

References

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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.

Reference Type RESULT
PMID: 25860647 (View on PubMed)

Other Identifiers

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2012/1707

Identifier Type: -

Identifier Source: org_study_id

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