Wang and colleagues demonstrate that digital droplet PCR (ddPCR) identified ESR1 mutations in 7% of primary breast cancers. ESR1 mutations were also readily detected in metastatic tissues and circulating tumor DNA in the blood. These results suggest that ddPCR may be amendable for monitoring tumor burden, and to predict relapse. See related article by Wang et al., p. 1130.

BACKGROUND ESR1 mutation has recently emerged as one of the important mechanisms involved in endocrine resistance. The incidence and clinical implication of ESR1 mutation has not been well evaluated in heavily pretreated breast cancer patients. METHODS We conducted a retrospective review of advanced breast cancer patients with tumors who underwent next-generation sequencing genomic profiling ...

Endogenous estrogens that are synthesized in the body impact gene regulation by activating estrogen receptors in diverse cell types. Exogenous compounds that have estrogenic properties can also be found circulating in the blood in both children and adults. The genome-wide impact of these environmental estrogens on gene regulation is unclear. To obtain an integrated view of gene regulation in re...

Characterizing the genetic alterations leading to the more aggressive forms of oestrogen receptor-positive (ER+) breast cancers is of critical significance in breast cancer management. Here we identify recurrent rearrangements between the oestrogen receptor gene ESR1 and its neighbour CCDC170, which are enriched in the more aggressive and endocrine-resistant luminal B tumours, through large-sca...

Study Objective: To identify the role of estrogen (ESR1) and progesterone (PRG) receptor genes in benign mammary dysplasia (BMD) women reproductive age with endometrial hyperplasia (EH). Design: prospective controlled cohort study. Materials Methods. We examined 105 aged 18 to 49 years old who were divided into three groups: group I — 36 BMD patients; II 27 EH without atypia; III 42 patients at...

Background It has been suggested that XbaI single nucleotide polymorphism (SNP) (A/G rs934099) in estrogen receptor 1 (ESR1) may be associated with curve severity in Japanese AIS patients [1] and with both curve severity and predisposition for AIS in Chinese patients [2]. However, replication studies have not confirmed these findings [3]. The role of the XbaI ESR1 polymorphism rs9340799 in AIS ...

The present study examines the expression of growth-regulating genes (gh, prl, smtl and igf1b), the estrogen receptors (esr1 and esr2a) and aromatase (cyp19a1a) in developing yellow perch. To gain an initial understanding into the endocrine control of growth preceding and involved with sexual size dimorphism (SSD), where females have been reported to grow faster and larger than males, young of ...

BACKGROUND The aim of this study was to investigate the role of the estrogen receptor 1 (ESR1) genetic polymorphisms for early menopause that was classified as premature ovarian failure (POF) and early menopause (EM) and to examine whether the associations of ESR1 genetic variants are different for POF and EM. METHODS We selected 100 POF cases and matched 100 EM cases and 200 normal menopause...

PURPOSE To test the hypothesis that polymorphisms of ESR1, the gene encoding estrogen receptor alpha (ERalpha), are associated with susceptibility, clinical phenotype, and progression of breast cancer. PATIENTS AND METHODS A case-control study was done on 940 patients with incident breast cancer and 1,547 healthy female controls. Fifteen single-nucleotide polymorphisms (SNP) selected from chr...