SNP’s use as a potential chemotoxicity stratification tool in breast cancer: from bench to clinic

IF 3.1 4区生物学 Q1 GENETICS & HEREDITY Functional & Integrative Genomics Pub Date : 2025-04-22 DOI:10.1007/s10142-025-01602-4

Hebatallah Ahmed Mohamed Moustafa, Walaa A. El-Dakroury, Alaa Ashraf, Ahmed I. Abulsoud, Shereen Saeid Elshaer, Nourhan M. Abdelmaksoud, Nehal I. Rizk, Sherif S. Abdel Mageed, Mohamed Bakr Zaki, Reda M. Mansour, Osama A. Mohammed, Mai A. Abd-Elmawla, Mustafa Ahmed Abdel-Reheim, Ahmed S. Doghish

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Abstract

Breast cancer (BC) remains one of the most prevalent malignancies affecting women worldwide, necessitating ongoing research to improve treatment outcomes and minimize adverse effects associated with chemotherapy. This article explores the role of genetic variations, particularly single nucleotide polymorphisms (SNPs), in influencing the efficacy and toxicity of chemotherapeutic agents used in BC treatment. It highlights the impact of polymorphisms in drug metabolism and transport genes, such as UDP-glucuronosyltransferase 1A1 (UGT1A1), carbonyl reductase 1 (CBR1), and ATP-binding cassette multidrug transporter (ABCB1) on the risk of adverse effects, including cardiotoxicity and hematological toxicities. By identifying specific SNPs associated with drug response and toxicity, this research underscores the potential for personalized medicine approaches to optimize treatment regimens, enhance therapeutic efficacy, and minimize side effects in BC patients. The findings advocate for the integration of genetic screening in clinical practice to improve patient outcomes and tailor chemotherapy based on individual genetic profiles.

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SNP作为乳腺癌潜在化学毒性分层工具的应用：从实验室到临床

乳腺癌（BC）仍然是影响全球女性的最普遍的恶性肿瘤之一，需要持续的研究来改善治疗效果并最大限度地减少与化疗相关的不良反应。本文探讨了遗传变异，特别是单核苷酸多态性（snp）在影响BC治疗中使用的化疗药物的疗效和毒性中的作用。它强调了药物代谢和转运基因多态性的影响，如udp -葡萄糖醛基转移酶1A1 （UGT1A1）、羰基还原酶1 （CBR1）和atp结合盒多药物转运蛋白（ABCB1）对不良反应风险的影响，包括心脏毒性和血液毒性。通过确定与药物反应和毒性相关的特定snp，本研究强调了个性化医疗方法在优化治疗方案、提高治疗效果和减少BC患者副作用方面的潜力。研究结果提倡在临床实践中整合基因筛查，以改善患者的预后，并根据个体基因谱定制化疗方案。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Functional & Integrative Genomics 生物-遗传学

CiteScore

3.50

自引率

3.40%

发文量

审稿时长

2 months

期刊介绍： Functional & Integrative Genomics is devoted to large-scale studies of genomes and their functions, including systems analyses of biological processes. The journal will provide the research community an integrated platform where researchers can share, review and discuss their findings on important biological questions that will ultimately enable us to answer the fundamental question: How do genomes work?