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

NCT06762483 | Recruiting

• 1 other identifier: L2-268
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 1

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

Conditions

Breast Cancer, Metastatic

Keywords

HR+/HER2- BRCA

Outcome Measures

Primary Outcomes (1)

• the creation of a digital gene library to support an evidence-based diagnostic algorithm

  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.

  2 years

Study Arms (1)

HR+/HER2- metastatic breast cancer (mBC) patients

breast

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Eligible patients will be identified and enrolled in the study. * Blood sample collection and plasma purification Blood samples will be collected, and plasma will be purified following biobank procedures. * ESR1 and gBRCA liquid biopsy-based testing

You may qualify if:

• 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
• 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.

You may not qualify if:

• Unable to provide written informed consent

Sponsors & Collaborators

• European Institute of Oncology: lead

Study Sites (1)

European Institute of oncology

Milan, Italy, 20141, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

blood

MeSH Terms

Conditions

Breast Neoplasms; Neoplasm Metastasis

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Neoplastic Processes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Nicola Fusco, MD

CONTACT

00390294372079; nicola.fusco@ieo.it

francesca lombardi, biologist

CONTACT

00390257489425; francesca.lombardi@ieo.it

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Target Duration: 24 Months
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 31, 2024
• First Posted: January 7, 2025
• Study Start: December 20, 2024
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2030
• Last Updated: March 24, 2026

Record last verified: 2026-03

Locations

IT (1)