Clinical trial NCT02560818: Transcriptomes Breast, Ovarian and Leukocyte Hereditary Genes Predisposing to Breast and / or Ovarian Cancer
Official title: Transcriptomes Breast, Ovarian and Leukocyte Hereditary Genes Predisposing to Breast and / or Ovarian Cancer
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Breast Cancer
Transcriptomes
Molecular Diagnostic
Ovarian Cancer
Keywords: splice profiles of messenger RNA
Lead sponsor: Centre Francois Baclesse
Sponsor class: OTHER
First posted: 2015-09-25
Enrollment: 20
Sex: FEMALE
Minimum age (years): 18
Maximum age (years): 65
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: DIAGNOSTIC

Brief summary: This is a case-control study of molecular diagnostics.

This study requires two steps:

* The first part of the study will be conducted on a population of 20 women without breast cancer and, or ovarian family (Healthy Volunteers controls)
* 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 .

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.

Detailed description: 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.

Eligibility criteria: For Healthy Volunteers

Inclusion Criteria:

For population A

* Women without a history of breast cancer 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 age 60 for ovarian cancer
* Age 18-65 years
* Women targeted for breast reduction surgery
* Agreeing to participate in the study (collection of signed informed consent)

For population B

* Women over the age of 18, with no previous history of breast and / or ovarian cancer and no family history of breast and / or early ovarian cancer in first and second degree relatives, ( diagnosis before age 50 for breast cancer and before age 60 for ovarian cancer).
* Women to be operated on for a hysterectomy with annexectomy or an annexectomy in a benign indication

For population C :

* Women with a history of breast cancer between 50 and 65 years of age but no history of ovarian cancer and no family history of breast and / or ovarian cancer in first- and second-degree relatives before 50 years of age breast cancer and before age 60 for ovarian cancer
* Women who have been treated for breast cancer and undergoing contralateral symmetrization surgery

Exclusion Criteria:

* Men
* Personal history (for population A and B) or family history (populations A, B, C) of breast and / or ovarian cancer (known breast or ovarian cancer in their family of 1st and 2nd degree before age 50 for breast cancer and before age 60 for ovarian cancer)
* Population C: breast cancer under 50 years
* Persons deprived of liberty or guardianship (including curatorship)

Primary outcomes:
measure: Difference between the average rate of inclusion of exons (exon inclusion mean level) messenger RNA leucocyte of patients and the controls (without matching)
timeFrame: at inclusion
Secondary outcomes:
measure: 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).
timeFrame: at inclusion
Other outcomes:
Locations:
city: Caen
country: France
facility: Clinique du Parc
Study officials:
affiliation: Centre François Baclesse
name: Sophie KRIEGER, MD
role: PRINCIPAL_INVESTIGATOR
References: