Location [1]
Hormone signaling
Protein [2]
Estrogen receptor
Synonyms [1]

ESR1 (estrogen receptor 1, also known as ER) is a gene that encodes the estrogen receptor protein. ESR1 plays a role in pathogenesis of cancers such as breast, endometrial, and prostate cancer (PMID: 21779010).

ESR1 is altered in 2.55% of all cancers with breast invasive ductal carcinoma, invasive breast carcinoma, colon adenocarcinoma, lung adenocarcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

ESR1 GENIE Cases - Top Diseases

The most common alterations in ESR1 are ESR1 Mutation (2.08%), ESR1 D538G (0.34%), ESR1 Amplification (0.27%), ESR1 Y537S (0.23%), and ESR1 Loss (0.12%) [3].

ESR1 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of ESR1 in Diseases

Breast Carcinoma +

Breast Adenocarcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.