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
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.
Unable to provide written informed consent
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
Case-only
Prospective
Not listed
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.
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