Testing for specific mutations in metastatic breast cancer patients using liquid biopsy
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
This study is testing a new blood test to see if it can find specific gene mutations in people with certain types of metastatic breast cancer to help guide their treatment.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 80 (estimated) |
| Ages | 18 Years and up |
| Sex | Female |
| Sponsor | European Institute of Oncology Academic / other |
| Locations | 1 site (Milan, Italy) |
| Trial ID | NCT06762483 on ClinicalTrials.gov |
What this trial studies
This study aims to develop and validate a testing strategy that allows for the simultaneous detection of ESR-1 and gBRCA mutations in patients with hormone receptor-positive and HER2-negative metastatic breast cancer through liquid biopsy. The approach involves creating a digital gene library to support an evidence-based diagnostic algorithm, which could enhance understanding of treatment resistance mechanisms. Participants will include those with confirmed diagnoses of the specified breast cancer types, either before starting treatment for metastatic disease or after experiencing progression following prior treatments.
Who should consider this trial
Good fit: Ideal candidates are women diagnosed with HR+/HER2- metastatic breast cancer who have not yet started treatment or have progressed after treatment with CDK4/6 inhibitors.
Not a fit: Patients with non-HR+/HER2- breast cancer or those who do not have a confirmed diagnosis of breast cancer will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more effective personalized treatment strategies for patients with metastatic breast cancer.
How similar studies have performed: Other studies have shown promise in using liquid biopsy for mutation detection in various cancers, indicating that this approach may be effective.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Milan, Italy
- European Institute of oncology — Milan, Italy, Italy (Recruiting)
Study contacts
- Study coordinator: Nicola Fusco, MD
- Email: nicola.fusco@ieo.it
- Phone: 00390294372079
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.