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Abstract：
OBJECTIVE: Tamoxifen is one of the principal treatments for estrogen receptor (ER)-positive breast cancer. Unfortunately, between 30 and 50% of patients receiving this hormonal therapy relapse. Since CYP2D6 genetic variants have been reported to play an important role in survival outcomes after treatment with tamoxifen, this study sought to summarize and critically appraise the available scientific evidence on this topic.
METHODS: A systematic literature review was conducted to identify studies investigating associations between CYP2D6 genetic variation and survival outcomes after tamoxifen treatment. Critical appraisal of the retrieved scientific evidence was performed, and recommendations were developed for CYP2D6 genetic testing in the context of tamoxifen therapy.
RESULTS: Although conflicting literature exists, the majority of the current evidence points toward CYP2D6 genetic variation affecting survival outcomes after tamoxifen treatment. Of note, review of the CYP2D6 genotyping assays used in each of the studies revealed the importance of comprehensive genotyping strategies to accurately predict CYP2D6 metabolizer phenotypes.
CONCLUSIONS: Critical appraisal of the literature provided evidence for the value of comprehensive CYP2D6 genotyping panels in guiding treatment decisions for non-metastatic ER-positive breast cancer patients. Based on this information, it is recommended that alternatives to standard tamoxifen treatments may be considered in CYP2D6 poor or intermediate metabolizers.
METHODS: A systematic literature review was conducted to identify studies investigating associations between CYP2D6 genetic variation and survival outcomes after tamoxifen treatment. Critical appraisal of the retrieved scientific evidence was performed, and recommendations were developed for CYP2D6 genetic testing in the context of tamoxifen therapy.
RESULTS: Although conflicting literature exists, the majority of the current evidence points toward CYP2D6 genetic variation affecting survival outcomes after tamoxifen treatment. Of note, review of the CYP2D6 genotyping assays used in each of the studies revealed the importance of comprehensive genotyping strategies to accurately predict CYP2D6 metabolizer phenotypes.
CONCLUSIONS: Critical appraisal of the literature provided evidence for the value of comprehensive CYP2D6 genotyping panels in guiding treatment decisions for non-metastatic ER-positive breast cancer patients. Based on this information, it is recommended that alternatives to standard tamoxifen treatments may be considered in CYP2D6 poor or intermediate metabolizers.
摘要：
目的：他莫昔芬是雌激素受体（ER）阳性乳腺癌的主要治疗药物之一。不幸的是,接受这种激素治疗的患者中有30％至50％会复发。由于CYP2D6遗传变异据报道在他莫昔芬治疗后的生存结果中起重要作用，这项研究旨在总结和批判性地评估有关该主题的现有科学证据.
方法：对CYP2D6遗传变异与他莫昔芬治疗后生存结局之间相关性的研究进行了系统性文献综述。对检索到的科学证据进行了批判性评估，并针对他莫昔芬治疗的CYP2D6基因检测提出了建议.
结果：尽管存在相互矛盾的文献，目前的大部分证据表明CYP2D6遗传变异会影响他莫昔芬治疗后的生存结局.值得注意的是，对每项研究中使用的CYP2D6基因分型试验的综述揭示了全面的基因分型策略对于准确预测CYP2D6代谢表型的重要性.
结论：文献的严格评估为CYP2D6基因分型综合小组在指导非转移性ER阳性乳腺癌患者治疗决策中的价值提供了证据。根据这些信息,建议CYP2D6代谢不良或中等代谢者可考虑替代标准他莫昔芬治疗.
方法：对CYP2D6遗传变异与他莫昔芬治疗后生存结局之间相关性的研究进行了系统性文献综述。对检索到的科学证据进行了批判性评估，并针对他莫昔芬治疗的CYP2D6基因检测提出了建议.
结果：尽管存在相互矛盾的文献，目前的大部分证据表明CYP2D6遗传变异会影响他莫昔芬治疗后的生存结局.值得注意的是，对每项研究中使用的CYP2D6基因分型试验的综述揭示了全面的基因分型策略对于准确预测CYP2D6代谢表型的重要性.
结论：文献的严格评估为CYP2D6基因分型综合小组在指导非转移性ER阳性乳腺癌患者治疗决策中的价值提供了证据。根据这些信息,建议CYP2D6代谢不良或中等代谢者可考虑替代标准他莫昔芬治疗.
