ESR1 mutations in HR+/HER2-metastatic breast cancer: Enhancing the accuracy of ctDNA testing

Activating mutations of the gene encoding the estrogen receptor (ER) alpha (ESR1) are among the most common mechanisms of endocrine therapy (ET) resistance in patients with hormone receptor (HR)+/HER2- breast cancer (BC) [1,2]. These acquired events have been reported in  ∼ 40% of metastatic BC (MBC) progressed on an aromatase inhibitor (AI) treatment, and can be detected on cell-free circulating DNA (cfDNA) [3]. Currently, there are more than 60 identified ESR1 mutation variants, mainly found in the ligand-binding domain (LBD) of ER, leading to ligand-independe nt activation of the receptor.

Source: Cancer Treatment Reviews - October 12, 2023 Category: Cancer & Oncology Authors: Konstantinos Venetis, Francesco Pepe, Carlo Pescia, Giulia Cursano, Carmen Criscitiello, Chiara Frascarelli, Eltjona Mane, Gianluca Russo, Beatrice Taurelli Salimbeni, Giancarlo Troncone, Elena Guerini Rocco, Giuseppe Curigliano, Nicola Fusco, Umberto Mal Tags: Anti-tumour Treatment Source Type: research