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Updated: May 25, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Published on: September 20, 2016

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EML4-ALK 变异特异性遗传相互作用塑造了肺部瘤的发生

Alberto Diaz-Jimenez1,2, Emily G Shuldiner3, Kalman Somogyi1

  • 1Division of Molecular Thoracic Oncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Cancer discovery
|September 23, 2025
PubMed
概括

体微管相关蛋白类4 (EML4) - 形淋巴瘤激酶 (ALK) 融合变体以不同的方式驱动肺癌. 这些独特的瘤驱动因素影响瘤抑制基因效应和治疗反应,挑战统一的治疗方法.

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...