Prolactin Receptor and Breast Diseases (Prolacsein)

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Breast Cancer; Benign Breast Disease

Treatments: Genetic: blood collection; Procedure: breast Biopsy or surgery; Biological: blood collection for hormonal status analysis; Other: ultrasonography (pelvis and breast), bone mineral density

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT00842465

P070608

Details and patient eligibility

About

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

Full 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.

Enrollment: 735 patients

Sex: Female

Ages: 10+ years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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

Trial design

735 participants in 3 patient groups

1

Description:

benign breast diseases

Treatment:

Procedure: breast Biopsy or surgery

Biological: blood collection for hormonal status analysis

Other: ultrasonography (pelvis and breast), bone mineral density

Genetic: blood collection

2

Description:

breast cancer

Treatment:

Procedure: breast Biopsy or surgery

Biological: blood collection for hormonal status analysis

Other: ultrasonography (pelvis and breast), bone mineral density

Genetic: blood collection

3

Description:

control

Treatment:

Biological: blood collection for hormonal status analysis

Genetic: blood collection