Study of ESR1 Mutations in Metastatic Breast Cancer

Study Overview
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Brief Summary
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The purpose of the study is to determine the frequency ESR1 mutations by Digital PCR in patient with metastatic breast cancer.

Detailed Description
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Breast cancer is the most common cancer in woman. Aromatase inhibitors have demonstrated a real efficacy however a resistance to treatment exists. ESR1 mutations appear like involved in the mechanism of resistance to aromatase inhibitors treatment. The purpose of the study is to determine the frequency ESR1 mutations by Digital PCR in patient with metastatic breast cancer. The significance of the Digital PCR technique will be determined first in plasma issued from healthy volunteers. At the initiation of aromatase inhibitors treatment patient with metastatic breast cancer will be included in the study. During their follow-up visit every 3 months), their status towards their disease will be collected and a plasma will be collected too. When the patient progress clinically or radiologically the plasma concomitant to this progression will be analysed by Digital PCR to detect ESR1 mutations. The patient will be followed during 2 years.

Official Title
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Determination of ESR1 Mutations by Digital PCR During Aromatase Inhibitor Treatment in Metastatic Breast Cancer

Conditions
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Metastatic Breast Cancer

Intervention / Treatment
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* Biological: Determination of ESR1 mutations


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Woman aged superior to 18 years old Inform consent signed Metastatic breast cancer or loco-regionnaly advanced breast cancer Inoperable With an indication to treat with aromatase inhibitor Treatment with aromatase inhibitors innitiated at the inclusion or at least 6 months before inclusion with a stable disease Without precedent treatment or with treatment by chemotherapy/tamoxifen/faslodex or aromatase inhibitors in a adjuvant treatment and with a time frame of 2 years between last treatment with aromatase inhibitors and metastatic evolution Treatment by aromatase inhibitors alone or in combination with a targeted therapy (trastuzumab +/- pertuzumab, bevacizumab, everolimus) Exclusion Criteria: No inform consent signed Patient under guardianship, curatorship Psychosocial disorder No affiliated or beneficiary of a social benefit system

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Other
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Determination of ESR1 mutations<br>Blood sample will be collected every 3 months during two years to determine ESR1 mutations | Biological: Determination of ESR1 mutations<br>* Blood sample prelevement. Plasma issued from patient with metastatic breast cancer will be analysed at progression by Digital PCR to detect ESR1 mutations<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Frequency of ESR1 mutations | Determination of the frequency of ESR1 mutation in patient who have a clinical and/or a radiological progression disease | up to 24 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Frequency of progression without ESR1 mutations | Determination of frequency of patient with a progression disease and without any ESR1 mutations | up to 24 months | 
| Time between introduction of aromatase inhibitor and detection of ESR1 mutations | Time between introduction of aromatase inhibitor and detection of ESR1 mutations by digital PCR | up to 24 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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metastatic, ESR1, aromatase inhibitor, breast cancer