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

Hereditary Breast and Ovarian Cancer Syndrome Clinical Trial

— EXSAL  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01333748
• Other study ID #: EXSAL
• Secondary ID: 2009-A00833-54
• Status: Completed
• Phase: Phase 2
• First received: April 4, 2011
• Last updated: July 12, 2012
• Start date: April 2010
• Est. completion date: June 2012

Study information

• Verified date: July 2012
• Source: Centre Francois Baclesse
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
• Study type: Interventional

Clinical Trial Summary

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 530
• Est. completion date: June 2012
• Est. primary completion date: June 2012
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: 18 Years and older

Eligibility

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 Design

Allocation: Non-Randomized, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Diagnostic

Related Conditions & MeSH terms

• Hereditary Breast and Ovarian Cancer Syndrome
• Ovarian Neoplasms

Intervention

Genetic:
• blood collection
blood collection for research quantification of allelic expression in the gene BRCA1.
• blood collection
blood collection for research quantification of allelic expression in the gene BRCA1.

Locations

Country	Name	City	State
France	Dr Pascaline BERTHET	Caen
France	Centre Hospitalier	Cherbourg
France	Centre Eugène MARQUIS	Rennes
France	CHU	Rennes
France	Centre Henri BECQUEREL	Rouen
France	CHU	Rouen

Sponsors (1)

Lead Sponsor	Collaborator
Centre Francois Baclesse

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	estimate the proportion of patients with allelic imbalance at the level of expression of BRCA1	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	No
Secondary	Study the variability of the measurement of the allelic expression depending on the position of SNPs	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	No
Secondary	proportion of patients with allelic imbalance at the level of expression of the BRCA2 gene	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	No
Secondary	Observe the possible effect of age	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	No