Prevalence of Estrogen Receptor Alpha (ESR1) Somatic Mutations in Breast Cancer

Abstract

Estrogen receptor-positive breast tumors, which initially respond effectively to endocrine therapy, progress due to acquired endocrine therapy resistance, including genomic alterations in estrogen receptor alpha (ESR1). A recent study has suggested that there is a sufficient number of preexisting ESR1 mutations acting as an intrinsic resistance mechanism to warrant primary screening. We determined the incidence of de novo ESR1 mutations in hormone-positive treatment-naïve primary breast tumors using 12 publicly available international datasets in the cBioPortal. The prevalence of mutation was statistically significantly lower in treatment-naïve primary tumors (n = 6 of 3682, 0.16%) than in metastatic (n = 156 of 1089, 14.3%, 2-sided P