The Impact of ESR1 Mutations on the Treatment of Metastatic Breast Cancer.

ABSTRACT: After nearly 20 years of research, it is now established that mutations within the estrogen receptor (ER) gene, ESR1, frequently occur in metastatic breast cancer and influence response to hormone therapy. Though early studies presented differing results, sensitive sequencing techniques now show that ESR1 mutations occur at a frequency between 20 and 40% depending on the assay method. Recent studies have focused on several "hot spot mutations," a cluster of mutations found in the hormone-binding domain of the ESR1 gene. Throughout the course of treatment, tumor evolution can occur, and ESR1 mutations emerge and become enriched in the metastatic setting. Sensitive techniques to continually monitor mutant burden in vivo are needed to effectively treat patients with mutant ESR1. The full impa

SUBMITTER: Pejerrey SM 

PROVIDER: S-EPMC9680193 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature