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

April 4, 2011
July 12, 2012
April 2010
June 2012   (final data collection date for primary outcome measure)
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.
Same as current
Complete list of historical versions of study NCT01333748 on ClinicalTrials.gov Archive Site
  • 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.
Same as current
Not Provided
Not Provided
 
Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer
Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer

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

Not Provided
Interventional
Phase 2
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Hereditary Breast and Ovarian Cancer Syndrome
Genetic: blood collection
blood collection for research quantification of allelic expression in the gene BRCA1.
  • Experimental: patients group
    Patients with ovarian and/or breast cancer
    Intervention: Genetic: blood collection
  • control population
    control population without history of breast and/or ovarian cancer
    Intervention: Genetic: blood collection
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
530
June 2012
June 2012   (final data collection date for primary outcome measure)

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)
Female
18 Years and older
Yes
Contact information is only displayed when the study is recruiting subjects
France
 
NCT01333748
EXSAL, 2009-A00833-54
Yes
Dr Agnès HARDOUIN, Centre François BACLESSE
Centre Francois Baclesse
Not Provided
Principal Investigator: Agnès HARDOUIN, MD Centre François Baclesse
Centre Francois Baclesse
July 2012

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP