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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:
ClinicalTrials.gov Identifier:
NCT01333748
First Posted: April 12, 2011
Last Update Posted: July 13, 2012
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by:
Centre Francois Baclesse
  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: None (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:


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 ]
    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 ]
    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 ]
    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 ]
    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

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes 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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01333748


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

Responsible Party: Dr Agnès HARDOUIN, Centre François BACLESSE
ClinicalTrials.gov Identifier: NCT01333748     History of Changes
Other Study ID Numbers: EXSAL
2009-A00833-54 ( Registry Identifier: ID-RCB number )
First Submitted: April 4, 2011
First Posted: April 12, 2011
Last Update Posted: July 13, 2012
Last Verified: July 2012

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

Additional relevant MeSH terms:
Ovarian Neoplasms
Hereditary Breast and Ovarian Cancer Syndrome
Endocrine Gland Neoplasms
Neoplasms by Site
Neoplasms
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Genital Neoplasms, Female
Urogenital Neoplasms
Endocrine System Diseases
Gonadal Disorders
Breast Neoplasms
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn
Breast Diseases
Skin Diseases