Mutations in Estrogen Receptor May Predict Poor Outcomes in Specific Breast Cancer Patients

Mutations in Estrogen Receptor May Predict Poor Outcomes in Specific Breast Cancer Patients
Mutations in the estrogen receptor (ESR1) are associated with worse outcomes in breast cancer patients treated with estrogen deprivation therapy in the form of the aromatase inhibitor Aromasin (exemestane), according to the results of a study published in JAMA Oncology. The study, "Prevalence of ESR1 Mutations in Cell-Free DNA and Outcomes in Metastatic Breast Cancer: A Secondary Analysis of the BOLERO-2 Clinical Trial," developed by researchers at Memorial Sloan Kettering Cancer Center in collaboration with Novartis, suggests that early detection of ESR1 mutations may help predict treatment response to Aromasin and guide patients to more effective therapies. Activation of the estrogen receptor (ER) is a hallmark of 70 to 80 percent of breast cancers in which ER expression is detected. In these patients, reducing the production of estrogen with aromatase inhibitors has proven effective, reducing disease morbidity and mortality. Recent studies have shown that ER-positive metastatic breast cancer frequently yields mutations in the ligand binding domain of ERS1, resulting in the constitutive activation of ESR1 even in the absence of estrogen. Although researchers have speculated that these mutations could reduce the effectiveness of hormonal therapies, including aromatase
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