Integrated Testing Strategy for Simultaneous Detection of ESR-1 and GBRCA Mutations Via Liquid Biopsy in HR+/HER2- Metastatic Breast Cancer (mBC) Patients, (L2-268)

European Institute of Oncology

Status

Enrolling

Conditions

Breast Cancer, Metastatic

Study type

Observational

Funder types

Other

Identifiers

NCT06762483

L2-268

Details and patient eligibility

About

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

Full 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).

Enrollment

80 estimated patients

Sex

Female

Ages

18+ years old

Volunteers

No Healthy Volunteers

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