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

Sponsor

Centre Francois Baclesse (Other)

Overall Status

Completed

CT.gov ID

NCT01333748

Collaborator

(none)

530

Enrollment

Locations

Arms

Duration (Months)

88.3

Patients Per Site

3.4

Patients Per Site Per Month

Study Details

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

Condition or Disease	Intervention/Treatment	Phase
Hereditary Breast and Ovarian Cancer Syndrome	Genetic: blood collection Genetic: blood collection	Phase 2

Study Design

Study Type:

Interventional

Anticipated Enrollment :

530 participants

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

Study Start Date :

Apr 1, 2010

Actual Primary Completion Date :

Jun 1, 2012

Actual Study Completion Date :

Jun 1, 2012

Arms and Interventions

Arm	Intervention/Treatment
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.
Other: 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.

Arm

Intervention/Treatment

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.

Other: 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.

Outcome Measures

Primary Outcome Measures

estimate the proportion of patients with allelic imbalance at the level of expression of BRCA1 [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 [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 [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 [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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

Female

Accepts Healthy Volunteers:

Yes

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

Locations

	Site	City	Country	Postal Code
1	Dr Pascaline BERTHET	Caen	France	14076
2	Centre Hospitalier	Cherbourg	France	50102
3	Centre Eugène MARQUIS	Rennes	France	35 000
4	CHU	Rennes	France	35000
5	Centre Henri BECQUEREL	Rouen	France	76038
6	CHU	Rouen	France	76038