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

This study has been completed.
Sponsor:
Information provided by:
Centre Francois Baclesse
ClinicalTrials.gov Identifier:
NCT01333748
First received: April 4, 2011
Last updated: July 12, 2012
Last verified: July 2012
History of Changes
  Purpose

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


Condition Intervention Phase
Hereditary Breast and Ovarian Cancer Syndrome
 Genetic: blood collection
 Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Centre Francois Baclesse:

Primary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]
    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.


Secondary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]
    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.

  • 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 ] [ Designated as safety issue: No ]
    Estimate the proportion of patients with allelic imbalance at the level of expression of the BRCA2 gene in the same population.

  • Observe the possible effect of age [ Time Frame: blood sample at baseline, no follow-up in this study ] [ Designated as safety issue: No ]
    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.


Estimated Enrollment: 530
Study Start Date: April 2010
Study Completion Date: June 2012
Primary Completion Date: June 2012 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
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.
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.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Criteria

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)
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01333748

Locations
France
Dr Pascaline BERTHET
Caen, France, 14076
Centre Hospitalier
Cherbourg, France, 50102
CHU
Rennes, France, 35000
Centre Eugène MARQUIS
Rennes, France, 35 000
CHU
Rouen, France, 76038
Centre Henri BECQUEREL
Rouen, France, 76038
Sponsors and Collaborators
Centre Francois Baclesse
Investigators
Principal Investigator: Agnès HARDOUIN, MD Centre François Baclesse
  More Information

No publications provided

Responsible Party: Dr Agnès HARDOUIN, Centre François BACLESSE
ClinicalTrials.gov Identifier: NCT01333748     History of Changes
Other Study ID Numbers: EXSAL, 2009-A00833-54
Study First Received: April 4, 2011
Last Updated: July 12, 2012
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

Keywords provided by Centre Francois Baclesse:
breast cancer
ovarian cancer
BRCA 1 and BRCA 2

Additional relevant MeSH terms:
Ovarian Neoplasms
Endocrine Gland Neoplasms
Neoplasms by Site
Neoplasms
Ovarian Diseases
Adnexal Diseases
 Genital Diseases, Female
Genital Neoplasms, Female
Urogenital Neoplasms
Endocrine System Diseases
Gonadal Disorders

ClinicalTrials.gov processed this record on May 19, 2013