CYP2D6 genotyping and the clinical impact on outcomes in breast cancer tamoxifen-treated patients.

Personalized medicine Pub Date : 2023-11-01 Epub Date: 2023-11-10 DOI:10.2217/pme-2023-0063
Gabriel Ramírez, Marcelo Vital, Carolina Vergara, Florencia Carusso, Florencia Neffa, Adriana Della Valle, Patricia Esperón
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Abstract

Aims: To report the distribution of allele frequencies of CYP2D6 gene and to evaluate their influence on the clinical outcomes of a group of breast cancer patients receiving adjuvant tamoxifen treatment from Uruguay. Patients & methods: 199 samples were genotyped through real-time polymerase chain reaction assays. Metabolization profiles were inferred from the genotypes. Correlations were evaluated using Pearson's χ2 test. Results: Phenotype frequencies were 0.65 normal (NM), 0.30 intermediate (IM) and 0.05 poor metabolizers (PM). Similar clinical outcomes between NM and (PM + IM) patient groups (odds ratio = 1.011, 95% CI = 0.2703-3.7826; p = 0.987) were found. Conclusion: CYP2D6 allele frequencies were analyzed for the first time in a cohort from Uruguay. Results did not support any impact of CYP2D6 gene polymorphisms on clinical outcomes.

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CYP2D6基因分型及其对癌症他莫昔芬治疗患者预后的临床影响。
目的:报道CYP2D6基因等位基因频率的分布,并评估其对一组来自乌拉圭接受他莫昔芬辅助治疗的癌症患者临床结果的影响。患者和方法:通过实时聚合酶链式反应分析对199份样本进行基因分型。根据基因型推断代谢谱。相关性采用Pearsonχ2检验进行评估。结果:表型频率为0.65正常(NM)、0.30中间(IM)和0.05不良代谢者(PM)。NM和(PM+IM)患者组的临床结果相似(比值比=1.011,95%CI=0.2703-37826;p=0.987)。结论:首次在来自乌拉圭的队列中分析CYP2D6等位基因频率。结果不支持CYP2D6基因多态性对临床结果的任何影响。
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