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- Title
Prevalence of Estrogen Receptor Alpha (ESR1) Somatic Mutations in Breast Cancer.
- Authors
Kinslow, Connor J; Tang, Ashley; Chaudhary, Kunal R; Cheng, Simon K
- 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 < .001) or previously treated primary tumors (n = 11 of 92, 12.0%, 2-sided P < .001). Pathogenic ESR1 mutations are a common mechanism of acquired but not intrinsic resistance to endocrine therapy and may not warrant universal testing of primary breast cancer populations.
- Subjects
ESTROGEN receptors; SOMATIC mutation; BREAST cancer
- Publication
JNCI Cancer Spectrum, 2022, Vol 6, Issue 5, p1
- ISSN
2515-5091
- Publication type
Article
- DOI
10.1093/jncics/pkac060