search
Back to results

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

Primary Purpose

Hereditary Breast and Ovarian Cancer Syndrome

Status
Completed
Phase
Phase 2
Locations
France
Study Type
Interventional
Intervention
blood collection
blood collection
Sponsored by
Centre Francois Baclesse
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional diagnostic trial for Hereditary Breast and Ovarian Cancer Syndrome focused on measuring breast cancer, ovarian cancer, BRCA 1 and BRCA 2

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)FemaleAccepts Healthy Volunteers

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)

Sites / Locations

  • Dr Pascaline BERTHET
  • Centre Hospitalier
  • Centre Eugène MARQUIS
  • CHU
  • Centre Henri BECQUEREL
  • CHU

Arms of the Study

Arm 1

Arm 2

Arm Type

Experimental

Other

Arm Label

patients group

control population

Arm Description

Patients with ovarian and/or breast cancer

control population without history of breast and/or ovarian cancer

Outcomes

Primary Outcome Measures

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.

Secondary Outcome Measures

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.
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.
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.

Full Information

First Posted
April 4, 2011
Last Updated
July 12, 2012
Sponsor
Centre Francois Baclesse
search

1. Study Identification

Unique Protocol Identification Number
NCT01333748
Brief Title
Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer
Acronym
EXSAL
Official Title
Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer
Study Type
Interventional

2. Study Status

Record Verification Date
July 2012
Overall Recruitment Status
Completed
Study Start Date
April 2010 (undefined)
Primary Completion Date
June 2012 (Actual)
Study Completion Date
June 2012 (Actual)

3. Sponsor/Collaborators

Name of the Sponsor
Centre Francois Baclesse

4. Oversight

Data Monitoring Committee
Yes

5. Study Description

Brief 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

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Hereditary Breast and Ovarian Cancer Syndrome
Keywords
breast cancer, ovarian cancer, BRCA 1 and BRCA 2

7. Study Design

Primary Purpose
Diagnostic
Study Phase
Phase 2
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
530 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
patients group
Arm Type
Experimental
Arm Description
Patients with ovarian and/or breast cancer
Arm Title
control population
Arm Type
Other
Arm Description
control population without history of breast and/or ovarian cancer
Intervention Type
Genetic
Intervention Name(s)
blood collection
Intervention Description
blood collection for research quantification of allelic expression in the gene BRCA1.
Intervention Type
Genetic
Intervention Name(s)
blood collection
Intervention Description
blood collection for research quantification of allelic expression in the gene BRCA1.
Primary Outcome Measure Information:
Title
estimate the proportion of patients with allelic imbalance at the level of expression of BRCA1
Description
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.
Time Frame
blood sample at baseline, no follow-up in this study
Secondary Outcome Measure Information:
Title
Study the variability of the measurement of the allelic expression depending on the position of SNPs
Description
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.
Time Frame
blood sample at baseline, no follow-up in this study
Title
proportion of patients with allelic imbalance at the level of expression of the BRCA2 gene
Description
Estimate the proportion of patients with allelic imbalance at the level of expression of the BRCA2 gene in the same population.
Time Frame
blood sample at baseline, no follow-up in this study
Title
Observe the possible effect of age
Description
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.
Time Frame
blood sample at baseline, no follow-up in this study

10. Eligibility

Sex
Female
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility 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)
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Agnès HARDOUIN, MD
Organizational Affiliation
Centre François Baclesse
Official's Role
Principal Investigator
Facility Information:
Facility Name
Dr Pascaline BERTHET
City
Caen
ZIP/Postal Code
14076
Country
France
Facility Name
Centre Hospitalier
City
Cherbourg
ZIP/Postal Code
50102
Country
France
Facility Name
Centre Eugène MARQUIS
City
Rennes
ZIP/Postal Code
35 000
Country
France
Facility Name
CHU
City
Rennes
ZIP/Postal Code
35000
Country
France
Facility Name
Centre Henri BECQUEREL
City
Rouen
ZIP/Postal Code
76038
Country
France
Facility Name
CHU
City
Rouen
ZIP/Postal Code
76038
Country
France

12. IPD Sharing Statement

Learn more about this trial

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

We'll reach out to this number within 24 hrs