Moustafa Hebatallah Ahmed Mohamed, El-Dakroury Walaa A, Ashraf Alaa, Abulsoud Ahmed I, Elshaer Shereen Saeid, Abdelmaksoud Nourhan M, Rizk Nehal I, Mageed Sherif S Abdel, Zaki Mohamed Bakr, Mansour Reda M, Mohammed Osama A, Abd-Elmawla Mai A, Abdel-Reheim Mustafa Ahmed, Doghish Ahmed S
Department of Clinical Pharmacy and Pharmacy Practice, Faculty of Pharmacy, Badr University in Cairo (BUC), Badr, Cairo, 11829, Egypt.
Department of Pharmaceutics and Industrial Pharmacy, Faculty of Pharmacy, Badr University in Cairo (BUC), Badr City, Cairo, 11829, Egypt.
Funct Integr Genomics. 2025 Apr 22;25(1):93. doi: 10.1007/s10142-025-01602-4.
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.
乳腺癌(BC)仍然是全球影响女性的最常见恶性肿瘤之一,因此需要持续开展研究以改善治疗效果并尽量减少与化疗相关的不良反应。本文探讨了基因变异,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疗效和毒性方面的作用。它强调了药物代谢和转运基因中的多态性,如尿苷二磷酸葡萄糖醛酸基转移酶1A1(UGT1A1)、羰基还原酶1(CBR1)和ATP结合盒多药转运蛋白(ABCB1)对包括心脏毒性和血液学毒性在内的不良反应风险 的影响。通过识别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BC患者治疗方案、提高治疗效果和尽量减少副作用方面的潜力。研究结果主张在临床实践中整合基因筛查,以改善患者预后并根据个体基因图谱定制化疗方案。