Prolactin Receptor and Breast Diseases

Completed

• Conditions: Benign Breast Disease; Breast Cancer
• Interventions: Biological: blood collection for hormonal status analysis; Procedure: breast Biopsy or surgery; Genetic: blood collection; Other: ultrasonography (pelvis and breast), bone mineral density

• Registration Number: NCT00842465
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief Summary

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

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.

Study Timeline

• Study Start: 2008-09
• Study First Submitted: 2009-01-13
• Study First Submitted QC: 2009-02-11
• Study First Posted: 2009-02-12
• Primary Completion: 2012-06
• Study Completion: 2012-06
• Status Verified: 2012-10
• Last Update Submitted: 2013-11-21
• Last Update Posted: 2013-11-25

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 735

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
1	blood collection for hormonal status analysis	benign breast diseases
2	ultrasonography (pelvis and breast), bone mineral density	breast cancer
1	blood collection	benign breast diseases
2	blood collection	breast cancer
3	blood collection	control
1	ultrasonography (pelvis and breast), bone mineral density	benign breast diseases
2	blood collection for hormonal status analysis	breast cancer
2	breast Biopsy or surgery	breast cancer
3	blood collection for hormonal status analysis	control
1	breast Biopsy or surgery	benign breast diseases

Primary Outcome Measures

Name	Time	Method
Sequencing of PRLR	at inclusion

Secondary Outcome Measures

Name	Time	Method
Bone mineral density measurement	at inclusion
Breast ultrasonography	at inclusion
Histological analysis of tumoral and peri-tumoral tissues	at surgery
Pelvic ultrasonography	at inclusion
Hormonal and metabolic evaluation	at inclusion
Breast MRI	at inclusion
Tumor transcriptome analysis	at surgery

Trial Locations

Locations (1)

Pitié Salpêtrière Hospital; 🇫🇷 Paris, France