From the Guidelines
Yes, there are E2 receptor polymorphisms, specifically in the ESR1 gene, which can affect treatment outcomes in hormone receptor-positive metastatic breast cancer. These genetic variations can impact receptor function, estrogen binding affinity, and gene expression regulation [ 1 ]. The clinical significance of these variations has been studied in relation to various conditions, including breast cancer susceptibility, osteoporosis risk, cardiovascular disease, and response to hormone replacement therapy. For example, certain ESR1 polymorphisms have been associated with altered bone mineral density and fracture risk in some populations [ 1 ]. The impact of these polymorphisms varies among different ethnic groups and can interact with environmental factors, making their clinical interpretation complex.
Some key points to consider when evaluating E2 receptor polymorphisms include:
- The role of ESR1 mutations in guiding therapy for hormone receptor-positive, human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer [ 1 ]
- The potential benefits of next-generation oral SERDs, such as elacestrant, in patients with ESR1 mutations [ 1 ]
- The importance of considering pharmacogenetic polymorphisms, such as those affecting the metabolism of capecitabine and sacituzumab, to minimize toxicity and optimize treatment outcomes [ 1 ]
Understanding these genetic variations may eventually help personalize hormone-related treatments based on an individual's genetic profile, leading to improved morbidity, mortality, and quality of life outcomes.
From the Research
E2 Receptor Polymorphisms
- There is no direct evidence in the provided studies to confirm the existence of E2 receptor polymorphisms.
- The studies primarily focus on the role of selective estrogen receptor modulators (SERMs) in the prevention and treatment of postmenopausal osteoporosis and breast cancer 2, 3, 4, 5, 6.
- However, it is mentioned that estrogens interact with estrogen receptors (ERs), which are designated as ERalpha and ERbeta, to alter gene expression 4.
- The provided studies do not explicitly discuss polymorphisms of the E2 receptor, but rather the effects of SERMs on estrogen receptors and their role in various diseases.