Breast Cancer ESR1 Gene Mutations Detection Kit-Xiamen Spacegen Co., Ltd. | Precision Medical Testing & Genetic Disease Diagnosis Solutions

Multiplex Fluorescence PCR

Breast Cancer ESR1 Gene Mutations Detection Kit

Selecting patients for the appropriate treatment of breast cancer based on test results； Efficacy monitoring; Assess the prognosis of patients

GENE MUTATION AND TUMOR

Breast cancer is the leading cause of cancer incidence and mortality among women worldwide. It is a heterogeneous disease, classified into four molecular subtypes based on the presence of genetic mutations, hormone receptor status, and cellular molecular characteristics: Luminal A, Luminal B, HER2-positive, and triple-negative (Basal-like). Among these, Luminal A and Luminal B subtypes account for approximately 70% of all breast cancers, making them the most common molecular subtypes, and both are sensitive to endocrine therapy.

Endocrine therapy drugs significantly reduce the risk of recurrence and death in patients with hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2-) breast cancer. However, 20% to 30% of HR+/HER2- breast cancer patients still experience recurrence or metastasis during or after completing endocrine therapy, developing resistance to such treatment. Studies have shown that ESR1 gene mutations are the primary cause (key factor) of endocrine therapy resistance in HR+/HER2- breast cancer.

ESR1 GENE INTRODUCTION

The ESR1 gene encodes the estrogen receptor (ER) protein, a ligand-dependent transcription factor. ER exerts its physiological functions through both nuclear and extranuclear pathways. In the nucleus, as a transcription factor, it directly binds to estrogen response elements (ERE, specific DNA sequences). At this point, ER typically recruits coactivator complexes (CoA), thereby regulating gene transcription. Outside the nucleus, acting like a growth factor, it binds to receptor tyrosine kinases (RTKs, such as EGFR, HER2, and IGF1-R), other signaling molecules, and coactivators (such as Src kinase). This binding can then activate multiple signaling pathways (e.g., PI3K-AKT, MAPK) and phosphorylate various transcription factors (TFs, such as AP-1 or NFκB) and coregulators, which in turn regulate gene transcription. Therefore, when the ESR1 gene is mutated, it causes abnormal ER function, leading to aberrant activation of the ER pathway. This results in abnormal cellular transcription and proliferation, as well as evasion of the inhibitory effects of endocrine therapy drugs.

The NCCN Guidelines for Breast Cancer recommend the ESR1 gene as a biomarker for patients with HR+/HER2- breast cancer who have progressed after prior endocrine therapy, to guide treatment with elacestrant. For patients with recurrent, unresectable HR+/HER2- breast cancer, it can guide the use of CDK4/6 inhibitors in subsequent treatment.

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