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| ID | Type | Description | Link |
|---|---|---|---|
| 2009-A00833-54 | Registry Identifier | ID-RCB number |
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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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| patients group | Experimental | Patients with ovarian and/or breast cancer |
|
| control population | Other | control population without history of breast and/or ovarian cancer |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| blood collection | Genetic | blood collection for research quantification of allelic expression in the gene BRCA1. |
|
| 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 |
| 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 |
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Inclusion Criteria:
For patients
For control population
Exclusion Criteria:
For patients:
For control population:
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| Name | Affiliation | Role |
|---|---|---|
| Agnès HARDOUIN, MD | Centre François Baclesse | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Dr Pascaline BERTHET | Caen | Caen | 14076 | France | ||
| Centre Eugène MARQUIS |
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| ID | Term |
|---|---|
| D061325 | Hereditary Breast and Ovarian Cancer Syndrome |
| D001943 | Breast Neoplasms |
| D010051 | Ovarian Neoplasms |
| ID | Term |
|---|---|
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D004701 | Endocrine Gland Neoplasms |
| D009386 | Neoplastic Syndromes, Hereditary |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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| blood collection | Genetic | blood collection for research quantification of allelic expression in the gene BRCA1. |
|
| 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 |
| Rennes |
| Rennes |
| 35 000 |
| France |
| Centre Hospitalier | Cherbourg | 50102 | France |
| CHU | Rennes | 35000 | France |
| Centre Henri BECQUEREL | Rouen | 76038 | France |
| CHU | Rouen | 76038 | France |
| D010049 |
| Ovarian Diseases |
| D000291 | Adnexal Diseases |
| D005831 | Genital Diseases, Female |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D005833 | Genital Neoplasms, Female |
| D014565 | Urogenital Neoplasms |
| D000091662 | Genital Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D001941 | Breast Diseases |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D004700 | Endocrine System Diseases |
| D006058 | Gonadal Disorders |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |