Testing ESR-1 and gBRCA Mutations by Liquid Biopsy in Women with HRHER2- Metastatic Breast Cancer and Creating a Digital Gene Library

What this Trial Is About

This research aims to develop and validate a combined testing approach to detect ESR-1 and gBRCA mutations at the same time using liquid biopsy in patients with hormone receptor-positive HR and HER2-negative metastatic breast cancer mBC. The study also plans to create a digital gene library to help support a diagnostic algorithm based on evidence. Breast cancer is the most common tumor type and leading cause of cancer deaths among women worldwide, with many tumors expressing hormone receptors but lacking HER2 overexpression. Resistance to treatment often occurs, but the mechanisms behind this remain unclear. The study involves observing patients diagnosed with HRHER2- metastatic breast cancer in advanced or metastatic stages, including those before starting treatment for metastatic disease and those who have progressed after treatment with CDK46 inhibitors. The primary focus is on collecting data through liquid biopsies to detect specific gene mutations. There are no interventional treatments or drugs given as part of this observational study. Participants will provide informed consent before joining. Throughout the study, researchers will collect and analyze genetic data to build the digital gene library and support the diagnostic algorithm development over two years. The study monitors the genetic markers in patients with breast cancer to better understand mutation patterns and resistance mechanisms. The total duration allows for ongoing analysis and validation of the testing strategy to improve diagnostic approaches in metastatic breast cancer care.

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