Clinical trial NCT01333748: Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer
Official title: Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE2
Conditions: Hereditary Breast and Ovarian Cancer Syndrome
Keywords: breast cancer
ovarian cancer
BRCA 1 and BRCA 2
Lead sponsor: Centre Francois Baclesse
Sponsor class: OTHER
First posted: 2011-04-12
Enrollment: 530
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: DIAGNOSTIC

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


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)

Primary outcomes:
measure: estimate the proportion of patients with allelic imbalance at the level of expression of BRCA1
timeFrame: blood sample at baseline, no follow-up in this study
Secondary outcomes:
measure: Study the variability of the measurement of the allelic expression depending on the position of SNPs
timeFrame: blood sample at baseline, no follow-up in this study
measure: proportion of patients with allelic imbalance at the level of expression of the BRCA2 gene
timeFrame: blood sample at baseline, no follow-up in this study
measure: Observe the possible effect of age
timeFrame: blood sample at baseline, no follow-up in this study
Other outcomes:
Locations:
city: Caen
country: France
facility: Dr Pascaline BERTHET
city: Cherbourg
country: France
facility: Centre Hospitalier
city: Rennes
country: France
facility: Centre Eugène MARQUIS
city: Rennes
country: France
facility: CHU
city: Rouen
country: France
facility: Centre Henri BECQUEREL
city: Rouen
country: France
facility: CHU
Study officials:
affiliation: Centre François Baclesse
name: Agnès HARDOUIN, MD
role: PRINCIPAL_INVESTIGATOR
References: