Atila ESR1 Mutation Screening Kit

Estrogen receptor 1 (ESR1) mutations are clinically relevant genetic alterations that can affect estrogen receptor signaling and contribute to the development and progression of hormone receptor-positive breast cancer, particularly through their association with resistance to endocrine therapy. ESR1 encodes estrogen receptor alpha, a key protein involved in estrogen-mediated gene regulation and cellular growth. Mutations in ESR1, including alterations in the ligand-binding domain, such as Y537 and D538 mutations, have been associated with constitutive estrogen receptor activation and reduced sensitivity to certain endocrine therapies. Other ESR1 mutations, including E380Q, S463P, and mutations affecting the L536 and V422 regions, may also influence receptor function and therapeutic response. The prevalence and clinical significance of ESR1 mutations vary according to the cancer type, disease stage, and prior treatment exposure. Accurate detection of selected ESR1 mutations can therefore support molecular characterization of tumors and, when appropriately validated for the intended clinical use, may contribute to treatment selection and disease management. 

The Atila ESR1 Mutation Screening Kit is a multiplex real-time polymerase chain reaction (PCR) assay based on proprietary technology designed to facilitate the detection of selected mutations in the ESR1 gene. Multiple sets of oligonucleotides are specifically designed to detect predefined ESR1 mutations,  which are grouped into several primer mixes (ESRPMs). The assay detects the presence of targeted mutations within the coverage of each ESRPM; however, individual variants covered by the same primer mix may not be distinguished. The covered targets include selected amino acid substitutions and a deletion, as listed in Table 1. This test enables qualitative screening for targeted ESR1 mutations in human genomic DNA samples to support molecular characterization when used in conjunction with appropriate clinical evaluation and confirmatory testing.