Integrated Testing Strategy for Simultaneous Detection of ESR-1 and GBRCA Mutations Via Liquid Biopsy in HR+/HER2- Metastatic Breast Cancer (mBC) Patients,

Recruiting

• Conditions: Breast Cancer, Metastatic

• Registration Number: NCT06762483
• Lead Sponsor: European Institute of Oncology

Brief Summary

Development and validation of an integrated testing strategy for simultaneous detection of ESR-1 and gBRCA mutations via liquid biopsy in HR+/HER2- metastatic breast cancer (mBC) patients, and the creation of a digital gene library to support an evidence-based diagnostic algorithm

Detailed Description

Breast cancer is the most prevalent type of tumor and the primary cause of cancer-related deaths among women globally (1). Approximately two-thirds of these tumors express hormone receptors (HR) and lack HER2 overexpression and/or amplification (2). Throughout treatment, resistance frequently develops, with underlying mechanisms that remain largely undefined (3).

Study Timeline

• Status Verified: 2024-12
• Study Start: 2024-12-20
• Study First Submitted: 2024-12-31
• Study First Submitted QC: 2024-12-31
• Last Update Submitted: 2024-12-31
• Study First Posted: 2025-01-07
• Last Update Posted: 2025-01-07
• Primary Completion: 2026-12-31
• Study Completion: 2030-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Female
• Target Recruitment: 80

Inclusion Criteria

• Participants must have a confirmed diagnosis of estrogen receptor-positive (ER+) and/or progesterone receptor-positive (PgR+) breast cancer through histological and/or cytological examination by the local laboratory Participants must exhibit HER2-negative breast cancer

  1. or 2+). If IHC is 2+, a negative in situ hybridization (Fluorescent in situ hybridization (FISH), Chromogenic in situ hybridization (CISH), or Silver-enhanced in situ hybridization (SISH)) test is required by local laboratory testing.

     • Participants should be in an advanced or metastatic setting including both those prior to the initiation of treatment for metastatic disease and those who experienced progression following treatment with cyclin-dependent kinases (CDK)4/6 inhibitors. However, the primary tumor should be treated according to the standard of care.
     • Written informed consent must be signed and dated by the patient and the investigator prior to inclusion.

Exclusion Criteria

• Unable to provide written informed consent

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
the creation of a digital gene library to support an evidence-based diagnostic algorithm	2 years	Optimize the patient journey for individuals with metastatic breast cancer (mBC) by enhancing the care pathway and promoting access to testing for ESR1 and gBRCA mutations.

Trial Locations

Locations (1)

European Institute of oncology; 🇮🇹 Milan, Italy