Oligogenic Determinism of Colorectal Cancer (DOCC)

April 13, 2026 updated by: University Hospital, Rouen

The majority of the clinical situations suggestive of an increased genetic risk for colorectal cancer (CRC) are not explained by a simple monogenic model. Our working hypothesis is that a fraction of clinical conditions suggestive of an increased genetic risk for CRC (familial aggregation, early age of tumour onset, development of multiple primary CRC) is due to the combination of a limited number of genetic variations, each conferring a moderate risk for CRC, but whose combination results into high risk.

This study, which will be both retrospective and prospective, is an association study that will compare frequencies of selected genetic variations, alone or in combination, between patients (cases) whose clinical presentation is suggestive of an increased genetic risk but who do not present a known Mendelian form of CRC, and controls, in order to assess associations of these variations with non-Mendelian genetic forms of CRC. The inclusion criteria will be: CRC in two first degree relatives, one being diagnosed before 61 years of age; or CRC diagnosed before 51 years of age or advanced colorectal adenoma before 41 years of age; or multiple primary CRCs in the same individual, the first being diagnosed before 61 years of age The exclusion criteria will be: Lynch syndrome, adenomatous polyposis and hamartomatous polyposis. The genetic variations which will be analyzed will include (i) SNPs detected by GWAS and associated to CRC. (ii) Risk factors corresponding to functional polymorphisms within candidate genes. (iii) Imbalance of the TGFbR1 allelic expression. Sample sizes were calculated to obtain 80% power for an odds ratio of 2.5 since the aim of this study is to determine genetic variations conferring a moderate risk. In order to cover all these possibilities and to have reasonable even for the genetic variations with low frequency below 0.03 or high frequency above 0.90, the target sample size was set at 700 cases and 350 controls. The recruitment of patients will be performed at the national level by the cancer genetics departments ensuring a correct evaluation of the personal and familial history and the French molecular diagnosis laboratories network ensuring in routine the analysis of the main genes involved in CRC. The control population will be composed of healthy subjects of Caucasian origin between 45 and 60 years of age, without personal or familial history among their first-degree relatives of colorectal tumours.

Demonstration that the combination of a limited number of genetic variations, each conferring a moderate risk for CRC, results into high risk would allow to base, in selected families, the evaluation of risk in relatives and indication of colonoscopy on the analysis of gene variants the combination of which would confer a high risk. This study will confirm or invalidate the contribution of aTGFbR1 allelic expression imbalance in the determinism of early-onset CRC and familial aggregation of CRC. The demonstration of the involvement in CRC genetic variations with strong effect of specific combinations should be of interest for our general understanding of the molecular basis of CRC.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

1550

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Caen, France, 14000
        • Centre Francois Baclesse
      • Dijon, France
        • Chu de Dijon
      • Grenoble, France
        • Chu de Grenoble
      • Lille, France
        • CHRU de Lille
      • Montpellier, France
        • CHU de Montpellier
      • Montpellier, France
        • CLCC Val d'Aurelle
      • Niort, France
        • CH de Niort
      • Paris, France, 75005
        • Institut Curie
      • Paris, France
        • Hopital Europeen Georges Pompidou
      • Rennes, France
        • CHU de Rennes
      • Rennes, France, 35000
        • Centre Eugène Marquis
      • Rouen, France, 76031
        • UHRouen
      • Saint-Etienne, France
        • CHU de Saint-Etienne
      • Toulouse, France
        • Institut Claudius Regaud
      • Toulouse, France
        • CHU de Toulouse
      • Villejuif, France, 94800
        • Institut Gustave Roussy

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 61 years (Adult)

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

  • colorectal cancer (CRC) in two first degree relatives, one being diagnosed before 61 years of age
  • CRC diagnosed before 51 years of age or advanced colorectal adenoma before 41 years of age
  • multiple primary CRCs in the same individual, the first being diagnosed before 61 years of age.

Exclusion Criteria:

  • Lynch syndrome,
  • adenomatous polyposis defined by more than 10 adenomas histologically proved,
  • hamartomatous polyposis defined by one hamartoma histologically proved,
  • absence of informed consent.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
No Intervention: Patient
Blood sample for patient included
Genetic: Blood drawn
Blood drawn for patient

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
genetic variation assessment
Time Frame: once
once

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Rouen

Investigators

  • Principal Investigator: Thierry FREBOURG, Pr, University Hospital, Rouen

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

January 1, 2010

Primary Completion (Actual)

January 1, 2013

Study Completion (Actual)

January 1, 2013

Study Registration Dates

First Submitted

January 27, 2010

First Submitted That Met QC Criteria

January 27, 2010

First Posted (Estimated)

January 28, 2010

Study Record Updates

Last Update Posted (Actual)

April 16, 2026

Last Update Submitted That Met QC Criteria

April 13, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2009/082/HP

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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