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This is a case-control study of molecular diagnostics.
This study requires two steps:
For analysis of leucocytes of the patients, a blood sample collected in a prior study (EXSAL study, ID-RCB 2009-A00833-54) will be used.
This study requires two steps:
- The first part of the study will be conducted on a population of 20 women free of breast cancer and, or ovarian Family (healthy volunteers controls) and without a known family history of breast and or ovarian cancer.
Mapping the level of blood (leukocytes) and the breast tissue will be drawn for the same individual on the physiological profiles splicing of the messenger RNA of genes involved in this predisposition, targeted by high-throughput sequencing of RNA (RNASeq).
A direct comparison of RNA splicing patterns between blood and breast tissue from the same witness will detect any differences between these two tissues.
-The second part of the study will be conducted on a population of 50 patients predisposed to familial breast and, or ovarian cancer compared to 20 controls with no known family history of breast and, or ovarian cancer.
Analysis of the results will highlight potential splicing abnormalities.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Control population : Healthy Volunteers | Active Comparator | 20 Healthy Volunteers will be recruited:
|
|
| Patients | Experimental | blood samples of 50 patients will be used (use of blood collection in study EXSAL N°ID-RCB 2009-A00833-54) |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| collection of a blood sample and breast and ovarian tissue | Other | a blood sample and a breast and ovarian tissue sample will be collected in healthy women during their surgery (breast or ovarian surgery according to selection group :A, B or C) |
| Measure | Description | Time Frame |
|---|---|---|
| Difference between the average rate of inclusion of exons (exon inclusion mean level) messenger RNA leucocyte of patients and the controls (without matching) | at inclusion |
| Measure | Description | Time Frame |
|---|---|---|
| Difference between the average rate of inclusion of exons (exon inclusion mean level) leukocyte messenger RNAs and, the mRNA of breast tissue in healthy women (with pairing). | at inclusion |
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For Healthy Volunteers
Inclusion Criteria:
For population A
For population B
For population C :
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Sophie KRIEGER, MD | Centre François Baclesse | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Clinique du Parc | Caen | France |
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| use of a previous blood collection for patients | Other |
|
| ID | Term |
|---|---|
| D001943 | Breast Neoplasms |
| D010051 | Ovarian Neoplasms |
| ID | Term |
|---|---|
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D001941 | Breast Diseases |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D004701 | Endocrine Gland Neoplasms |
| 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 |
| D004700 | Endocrine System Diseases |
| D006058 | Gonadal Disorders |
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