Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer (EXSAL)

July 12, 2012 updated by: Centre Francois Baclesse
The purpose of this study is to determine proportion of patients presented a search allelic imbalance of expression of genes BRCA 1 and 2 in population with hereditary breast and/or ovarian cancer risk and negative for deletion mutation BRCA 1 and 2 genes

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Anticipated)

530

Phase

  • Phase 2

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, 14076
        • Dr Pascaline BERTHET
      • Cherbourg, France, 50102
        • Centre Hospitalier
      • Rennes, France, 35000
        • CHU
      • Rennes, France, 35 000
        • Centre Eugène Marquis
      • Rouen, France, 76038
        • Centre Henri Becquerel
      • Rouen, France, 76038
        • CHU

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 and older (ADULT, OLDER_ADULT)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

Female

Description

Inclusion Criteria:

For patients

  • Women with breast cancer and / or ovarian cancer meet criteria suggestive of a hereditary predisposition
  • Deleterious mutation of BRCA1 and BRCA2 sought and not highlighted
  • Age ≥ 18 years
  • Agreeing to participate in the study (a collection of signed informed consent)

For control population

  • Women with no history of breast and / or ovarian cancer and no family history of breast and / or ovarian cancer among family members on the 1st and 2nd degree before age 50 for breast cancer and before 60 years for ovarian cancer
  • Agreeing to participate in the study (a collection of signed informed consent)

Exclusion Criteria:

For patients:

  • Patients with a known deleterious mutation in BRCA1 and BRCA2
  • Patients do not meet criteria suggestive of a hereditary predisposition
  • Persons deprived of liberty or under guardianship (including guardianship)

For control population:

  • Males
  • Personal or family history of breast and / or ovarian cancer (breast or ovarian cancer in their family experienced 1st and 2nd degree before age 50 for breast cancer before age 60 for cancer ovarian)
  • Persons deprived of liberty or under guardianship (including guardianship)

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: NON_RANDOMIZED
  • Interventional Model: PARALLEL
  • Masking: NONE

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
EXPERIMENTAL: patients group
Patients with ovarian and/or breast cancer
Genetic: blood collection
blood collection for research quantification of allelic expression in the gene BRCA1.
OTHER: control population
control population without history of breast and/or ovarian cancer
Genetic: blood collection
blood collection for research quantification of allelic expression in the gene BRCA1.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
estimate the proportion of patients with allelic imbalance at the level of expression of BRCA1
Time Frame: blood sample at baseline, no follow-up in this study
The main objective of this study is to estimate the proportion of patients with allelic imbalance at the level of expression of BRCA1 in a population meeting the criteria suggestive of a hereditary predisposition to breast and / or ovarian cancer , and negative for deleterious mutations of BRCA 1 and BRCA 2.
blood sample at baseline, no follow-up in this study

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Study the variability of the measurement of the allelic expression depending on the position of SNPs
Time Frame: blood sample at baseline, no follow-up in this study
Study the variability of the measurement of the allelic expression depending on the position of SNPs (Single Nucleotide Polymorphism) in the gene, in order to extend this research to variants of unknown significance whatever their position in the gene.
blood sample at baseline, no follow-up in this study
proportion of patients with allelic imbalance at the level of expression of the BRCA2 gene
Time Frame: blood sample at baseline, no follow-up in this study
Estimate the proportion of patients with allelic imbalance at the level of expression of the BRCA2 gene in the same population.
blood sample at baseline, no follow-up in this study
Observe the possible effect of age
Time Frame: blood sample at baseline, no follow-up in this study
The frequency of allelic imbalance of expression will be compared depending on the age of the witnesses in the control population. The potential effect of age on the presence or absence of allelic imbalance of expression will be observed.
blood sample at baseline, no follow-up in this study

Collaborators and Investigators

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

Sponsor

Centre Francois Baclesse

Investigators

  • Principal Investigator: Agnès HARDOUIN, MD, Centre François Baclesse

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

April 1, 2010

Primary Completion (ACTUAL)

June 1, 2012

Study Completion (ACTUAL)

June 1, 2012

Study Registration Dates

First Submitted

April 4, 2011

First Submitted That Met QC Criteria

April 11, 2011

First Posted (ESTIMATE)

April 12, 2011

Study Record Updates

Last Update Posted (ESTIMATE)

July 13, 2012

Last Update Submitted That Met QC Criteria

July 12, 2012

Last Verified

July 1, 2012

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • EXSAL
  • 2009-A00833-54 (REGISTRY: ID-RCB number)

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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