乳腺癌个体化治疗的靶向治疗和药物基因组学进展:基因snp在治疗耐药中的作用。

IF 3.3 4区 医学 Q2 GENETICS & HEREDITY
Devika Tripathi, Neal M Davies, P S Rajinikanth, Prashant Pandey
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引用次数: 0

摘要

乳腺癌仍然是一种普遍和多样的疾病,在全世界妇女中与癌症相关的死亡中起着重要作用。分子生物学的最新进展为靶向治疗和药物基因组学铺平了道路,这对于制定个性化治疗策略至关重要。这篇文献综述综合了这些方法的最新研究结果,强调临床试验、基因组分析和个性化医疗。它的目标是集中研究靶向治疗,如人类表皮生长因子受体- 2 (HER2)抑制剂和CDK4/6抑制剂,以及影响药物代谢、疗效和毒性的药物基因组学数据。此外,它还研究了与治疗耐药性相关的基因snp(单核苷酸多态性)的作用,这已经成为影响乳腺癌治疗结果的关键生物标志物。这些snp存在于参与药物代谢和肿瘤进展的基因中,导致特定亚型的治疗反应和耐药性的变化。它们包括各种乳腺癌亚型,包括激素受体阳性(HR+), her2阳性和三阴性乳腺癌(TNBC)。靶向治疗,特别是HER2抑制剂,显著改善了特定亚型的预后。此外,药物基因组学通过识别影响药物反应的遗传变异、优化治疗选择和最小化不良反应来个性化治疗。尽管取得了这些进展,但耐药性仍然是一个重大挑战,这突出了在分子诊断和创新治疗组合方面进行持续研究的必要性。文献表明,由基因组图谱、药物基因组数据和单核苷酸多态性(snp)分析驱动的精准医学正在提高乳腺癌患者的治疗效果。HER2阳性和HR+患者尤其受益于这些靶向治疗,而新兴的治疗方法正在解决TNBC的复杂性。此外,基因检测,如BRCA1/2突变筛查,对于指导治疗决策至关重要。靶向治疗和药物基因组学彻底改变了乳腺癌治疗,提供了更加个性化和有效的护理。然而,克服耐药性和扩大基因组检测的可及性对该领域的未来发展至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Advancements in Targeted Therapies and Pharmacogenomics for Personalized Breast Cancer Treatment: The Role of Gene SNPs in Treatment Resistance.

Breast cancer remains a prevalent and diverse disease, significantly contributing to cancer- related deaths among women worldwide. Recent advancements in molecular biology have paved the way for targeted therapies and pharmacogenomics, which are crucial for developing personalized treatment strategies. This literature review synthesizes findings from recent studies on these approaches, emphasizing clinical trials, genomic profiling, and personalized medicine. It aims to focus on studies examining targeted treatments, such as human epidermal growth factor receptor- 2 (HER2) inhibitors and CDK4/6 inhibitors, alongside pharmacogenomic data that influence drug metabolism, efficacy, and toxicity. Additionally, it examines the role of gene SNPs (Single Nucleotide Polymorphisms) correlated with treatment resistance, which have emerged as key biomarkers affecting therapeutic outcomes in breast cancer. These SNPs, found in genes involved in drug metabolism and tumor progression, contribute to variability in treatment responses and resistance in specific subtypes. They encompass various breast cancer subtypes, including hormone receptorpositive (HR+), HER2-positive, and triple-negative breast cancer (TNBC). The targeted therapies, particularly HER2 inhibitors, have markedly improved outcomes for specific subtypes. Furthermore, pharmacogenomics personalizes treatment by identifying genetic variations that affect drug response, optimizing therapy selection, and minimizing adverse effects. Despite these advancements, drug resistance remains a significant challenge, highlighting the necessity for ongoing research in molecular diagnostics and innovative therapeutic combinations. The literature suggests that precision medicine, driven by genomic profiling, pharmacogenomic data, and single nucleotide polymorphisms (SNPs) analysis, is enhancing treatment efficacy for breast cancer patients. HER2- positive and HR+ patients have especially benefitted from these targeted therapies while emerging treatments are addressing the complexities of TNBC. Additionally, genetic testing, such as BRCA1/2 mutation screening, is vital for guiding treatment decisions. Targeted therapies and pharmacogenomics have revolutionized breast cancer treatment, providing more personalized and effective care. Nevertheless, overcoming drug resistance and expanding access to genomic testing are essential for future advancements in this field.

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来源期刊
Current gene therapy
Current gene therapy 医学-遗传学
CiteScore
6.70
自引率
2.80%
发文量
46
期刊介绍: Current Gene Therapy is a bi-monthly peer-reviewed journal aimed at academic and industrial scientists with an interest in major topics concerning basic research and clinical applications of gene and cell therapy of diseases. Cell therapy manuscripts can also include application in diseases when cells have been genetically modified. Current Gene Therapy publishes full-length/mini reviews and original research on the latest developments in gene transfer and gene expression analysis, vector development, cellular genetic engineering, animal models and human clinical applications of gene and cell therapy for the treatment of diseases. Current Gene Therapy publishes reviews and original research containing experimental data on gene and cell therapy. The journal also includes manuscripts on technological advances, ethical and regulatory considerations of gene and cell therapy. Reviews should provide the reader with a comprehensive assessment of any area of experimental biology applied to molecular medicine that is not only of significance within a particular field of gene therapy and cell therapy but also of interest to investigators in other fields. Authors are encouraged to provide their own assessment and vision for future advances. Reviews are also welcome on late breaking discoveries on which substantial literature has not yet been amassed. Such reviews provide a forum for sharply focused topics of recent experimental investigations in gene therapy primarily to make these results accessible to both clinical and basic researchers. Manuscripts containing experimental data should be original data, not previously published.
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