Hereditary Breast and Ovarian Cancer Syndrome
Conditions
Keywords
breast cancer, ovarian cancer, BRCA 1 and BRCA 2
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
Interventions
GENETICblood collection
blood collection for research quantification of allelic expression in the gene BRCA1.
Sponsors
Centre Francois Baclesse
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
France
Outcome results
None listed