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

Centre Francois Baclesse530 enrolled

Overview

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

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

530

Conditions

Hereditary Breast and Ovarian Cancer Syndrome

Interventions

blood collectionGENETIC

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

blood collectionGENETIC

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

Eligibility

Sex: FEMALEMin age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

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)

Locations (6)

Dr Pascaline BERTHET

Caen, Caen, France

Centre Eugène MARQUIS

Rennes, Rennes, France

Centre Hospitalier

Cherbourg, France

CHU

Rennes, France

Centre Henri BECQUEREL

Outcomes

Primary Outcomes

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.

Time frame: blood sample at baseline, no follow-up in this study

Secondary Outcomes

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.

Time frame: 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.

Time frame: 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.

Time frame: blood sample at baseline, no follow-up in this study

Data from ClinicalTrials.gov

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