Abstract
BackgroundThe ESR1 gene suffers methylation changes in many types of cancers, including breast cancer (BC), the most frequently diagnosed cancer in women that is also present in men. Methylation at promoter A of ESR1 is the worse prognosis in terms of overall survival; thus, the early detection, prognostic, and prediction of therapy involve some methylation biomarkers.MethodsTherefore, our study aimed to examine the methylation levels at the ESR1 gene in samples from Mexican BC patients and its possible association with menopausal status.ResultsWe identified a novel 151-bp CpG island in the promoter A of the ESR1 gene. Interestingly, methylation levels at this CpG island in positive ERα tumors were approximately 50% less than negative ERα or control samples. Furthermore, methylation levels at ESR1 were associated with menopausal status. In postmenopausal patients, the methylation levels were 1.5-fold higher than in premenopausal patients. Finally, according to tumor malignancy, triple-negative cancer subtypes had higher ESR1 methylation levels than luminal/HER2+ or luminal A subtypes.ConclusionsOur findings suggest that methylation at this novel CpG island might be a promising prognosis marker
Highlights
One of the most common cancers among women is breast cancer (BC), the second leading cause of cancer mortality in women [1]
Since genetic modifications might contribute to the incidence of BC, this study aimed to investigate the methylation levels at the Estrogen receptor 1 (ESR1) gene in samples from Mexican BC patients and correlate these findings with the menopausal status
We found that the proximal promoter of the ESR1 gene contains a 151-bp DNA methylation of cytosine-guanine dinucleotides (CpG) island located between the transcription start site (+ 1) and the ATG codon
Summary
One of the most common cancers among women is breast cancer (BC), the second leading cause of cancer mortality in women [1]. This cancer occurs in men and women, statistics show that only 1 of every 100 cases of BC is diagnosed in men. Different risk factors for BC have been identified in premenopausal and postmenopausal women. Excessive body weight and abdominal adiposity are important risk factors in postmenopausal ages [3]. The BC subtype in young and older patients has important implications in survival and prognosis. In this regard, estrogen receptorpositive (ER+) tumors have a better prognosis in postmenopausal ages [2]. Methylation at promoter A of ESR1 is the worse prognosis in terms of overall survival; the early detection, prognostic, and prediction of therapy involve some methylation biomarkers
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