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Background    ESR1  mutations have attracted attention as a potentially important marker and treatment target in endocrine therapy-resistant breast cancer patients. The E380Q mutation, which is one of the  ESR1  mutations, is associated with estradiol (E2) hypersensitivity, increased DNA binding to the estrogen response element, and E2-independent constitutive trans-activation activity, but its frequency in  ESR1  mutations remains unknown. The present study aimed to investigate the E380Q mutation in comparison with the other representative  ESR1  mutations.    Methods  We screened a total of 62 patients (66 tumor tissues and 69 plasma cell-free DNA (cfDNA)) to detect  ESR1  mutations (E380Q, Y537S, Y537N, Y537C, and D538G) using droplet-digital polymerase chain reaction. Plasma was collected at more than two points of the clinical course, in whom changes of  ESR1  mutations under treatment were investigated.    Results  We detected  ESR1  mutations in 21% (12/57) of MBCs. The E380Q  ESR1  mutation was found in 16% (2/12) and the other  ESR1  LBD mutations were five (41.6%) of Y537S, and four each (33.3%) of D538G, Y537N, and Y537C, in 12  ESR1  mutant breast cancer patients. Five tumors had multiple  ESR1  mutations: three had double  ESR1  mutations; Y537S/E380Q, Y37S/Y537C, and Y537S/D538G, and two had triple  ESR1  mutations; Y537S/Y537N/D538G. In plasma cfDNA analysis, the E380Q mutation was not detected, but increases in other  ESR1  mutations were detected in 46.2% (6/13) of MBC patients under treatment.    Conclusions  We have shown that there are distinct populations of  ESR1  mutations in metastatic tissue and plasma. Each  ESR1  mutation may have different clinical significance, and it will be necessary to investigate them all.    Electronic supplementary material  The online version of this article (doi: 10.1186/s12885-017-3779-2) contains supplementary material, which is available to authorized users.

Prevalence of ESR1 E380Q mutation in tumor tissue and plasma from Japanese breast cancer patients