Overview
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
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).
Eligibility
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
- 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.
- 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.
Exclusion Criteria:
- Unable to provide written informed consent