Actively Recruiting
Development and Validation of an Integrated Testing Strategy for ESR-1 and gBRCA Mutations Via Liquid Biopsy in HR+/HER2- Metastatic Breast Cancer Patients and Creation of a Digital Gene Library
Led by European Institute of Oncology · Updated on 2026-03-24
80
Participants Needed
1
Research Sites
208 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to develop and validate a combined testing approach to detect ESR-1 and gBRCA mutations at the same time using liquid biopsy in patients with hormone receptor-positive (HR+) and HER2-negative metastatic breast cancer (mBC). The study also plans to create a digital gene library to help support a diagnostic algorithm based on evidence. Breast cancer is the most common tumor type and leading cause of cancer deaths among women worldwide, with many tumors expressing hormone receptors but lacking HER2 overexpression. Resistance to treatment often occurs, but the mechanisms behind this remain unclear. The study involves observing patients diagnosed with HR+/HER2- metastatic breast cancer in advanced or metastatic stages, including those before starting treatment for metastatic disease and those who have progressed after treatment with CDK4/6 inhibitors. The primary focus is on collecting data through liquid biopsies to detect specific gene mutations. There are no interventional treatments or drugs given as part of this observational study. Participants will provide informed consent before joining. Throughout the study, researchers will collect and analyze genetic data to build the digital gene library and support the diagnostic algorithm development over two years. The study monitors the genetic markers in patients with breast cancer to better understand mutation patterns and resistance mechanisms. The total duration allows for ongoing analysis and validation of the testing strategy to improve diagnostic approaches in metastatic breast cancer care.
CONDITIONS
Brief Title
Integrated Testing Strategy for Simultaneous Detection of ESR-1 and gBRCA Mutations Via Liquid Biopsy in HR+/HER2- Metastatic Breast Cancer (mBC) Patients,
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Confirmed diagnosis of estrogen receptor-positive (ER+) and/or progesterone receptor-positive (PgR+) breast cancer by histological or cytological examination
- HER2-negative breast cancer confirmed by local laboratory testing, including negative in situ hybridization if IHC is 2+
- Advanced or metastatic breast cancer stage, including patients prior to metastatic treatment or after progression following CDK4/6 inhibitor treatment
- Written informed consent signed and dated by patient and investigator before inclusion
You will not qualify if you...
- Unable to provide written informed consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 2 years
Blood samples are collected via liquid biopsy for detection of ESR-1 and gBRCA mutations and to create a digital gene library.
Periodic sample collections as determined by the study schedule
Trial Site Locations
Total: 1 location
1
European Institute of oncology
Milan, Italy, Italy, 20141
Actively Recruiting
Research Team
N
Nicola Fusco, MD
F
francesca lombardi, biologist
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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