Prolactin Receptor and Breast Diseases

NCT ID: NCT00842465

Last Updated: 2013-11-25

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

735 participants

Study Classification

OBSERVATIONAL

Study Start Date

2008-09-30

Study Completion Date

2012-06-30

Brief Summary

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Prolactin is known to play an important role in breast development and differentiation. Thus proliferative breast diseases are good models to unravel PRl / PRLR function in proliferative processes.

The aim of this project is to identify and to characterize new mutants of the prolactin receptor gene within cohorts of benign or malign breast diseases with low or high occurrence frequency in human populations

Detailed Description

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There is currently no known genetic disease linked to prolactin (prl) or its receptor (prlR) in humans. In a previous work, we have identified a new mutation of prolactin receptor that leads to it's constitutive activation and to cell proliferation signalling cascades (i.e. through MAP kinases).

This result suggests that PRLR mutants may have a strong physiopathological impact on breast diseases etiology and/or development and/or evolution.

Based on this, we will pursue the identification of new PRLR mutants in various breast diseases and continue their in vitro functional characterization and then analyse their in vivo consequences on breast tissue samples collected within these women.

1. In a first time we wish to confirm our previous results on multiple fibroadenomas (MFA). The current cohort will be augmented with 30 to 35 new patients each year. We will confirm our in vitro results in vivo with tumoral and peri-tumoral tissue samples.
2. We then wish to extend this study to other rare breast pathologies (i.e. gigantomastia, phyllodies tumors, giant fibroadenomas) and to more common ones (simple fibroadenomas) to demonstrate a link between simple FA and MFA.
3. in a third time we will try to determinate whether a constitutive activation of PRLR leads to enhanced occurrence of benign / malign transitions.

Conditions

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Benign Breast Disease Breast Cancer

Keywords

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Breast diseases, human mutation, prolactin receptor; breast cancer

Study Design

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Study Time Perspective

CROSS_SECTIONAL

Study Groups

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1

benign breast diseases

blood collection for hormonal status analysis

Intervention Type BIOLOGICAL

for hormonal status analysis

breast Biopsy or surgery

Intervention Type PROCEDURE

breast Biopsy or surgery

blood collection

Intervention Type GENETIC

blood collection for prlR gene sequencing

ultrasonography (pelvis and breast), bone mineral density

Intervention Type OTHER

ultrasonography (pelvis and breast), bone mineral density

2

breast cancer

blood collection for hormonal status analysis

Intervention Type BIOLOGICAL

for hormonal status analysis

breast Biopsy or surgery

Intervention Type PROCEDURE

breast Biopsy or surgery

blood collection

Intervention Type GENETIC

blood collection for prlR gene sequencing

ultrasonography (pelvis and breast), bone mineral density

Intervention Type OTHER

ultrasonography (pelvis and breast), bone mineral density

3

control

blood collection for hormonal status analysis

Intervention Type BIOLOGICAL

for hormonal status analysis

blood collection

Intervention Type GENETIC

blood collection for prlR gene sequencing

Interventions

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blood collection for hormonal status analysis

for hormonal status analysis

Intervention Type BIOLOGICAL

breast Biopsy or surgery

breast Biopsy or surgery

Intervention Type PROCEDURE

blood collection

blood collection for prlR gene sequencing

Intervention Type GENETIC

ultrasonography (pelvis and breast), bone mineral density

ultrasonography (pelvis and breast), bone mineral density

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* benign breast diseases

* 10 \< age \< 25 for simple FA
* 10 \< age \< 50 for other diseases .no hormonal treatment for at least 3 months if patients took cyproterone acetate; 1 month for other ovaries-interfering hormonal treatment, and 1 week for ovaries-non-interfering hormonal treatments.
* Signature of the informed consent form (icf) by patients or their legal representative (for patients under age of 18.)
* breast cancer :

* having a breast cancer with a planned surgery
* age \> 55 years
* post menopausal with not menopause substitution treatment
* signature of the icf
* control group :

* 18 \< age \< 60
* signature of the icf

Exclusion Criteria

* no signature or no conformity of the icf
* no social security
Minimum Eligible Age

10 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

No

Sponsors

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Institut Pasteur

INDUSTRY

Sponsor Role collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Philippe Touraine, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Locations

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Pitié Salpêtrière Hospital

Paris, , France

Site Status

Countries

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France

Other Identifiers

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P070608

Identifier Type: -

Identifier Source: org_study_id