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

Study Overview
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Brief Summary
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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

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

Conditions
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Hereditary Breast and Ovarian Cancer Syndrome

Intervention / Treatment
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* Genetic: blood collection
* Genetic: blood collection


Participation Criteria
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Eligibility Criteria
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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)

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: patients group<br>Patients with ovarian and/or breast cancer | Genetic: blood collection<br>* blood collection for research quantification of allelic expression in the gene BRCA1.<br>|
| Other: control population<br>control population without history of breast and/or ovarian cancer | Genetic: blood collection<br>* blood collection for research quantification of allelic expression in the gene BRCA1.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 
| 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 | 
| 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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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breast cancer, ovarian cancer, BRCA 1 and BRCA 2