Kristyanto Hendy, Utomo Ahmad R
Faculty of Medicine University of Indonesia, Jl. Salemba 6 Jakarta Pusat 10430, Indonesia.
Acta Med Indones. 2010 Apr;42(2):109-15.
Pharmacogenetic is broadly understood as study or clinical testing of genetic variations that contribute to differing response to drugs. In cancer treatment, applications of pharmacogenetic cover three areas: avoidance of adverse drug reaction (ADR), selection of treatment options, and prediction of cancer recurrence. Patients with genetic variations in UGT1A1 and DPYD genes are hypersensitive to Irinotecan and 5-Fluorouracil (5FU) respectively. Therefore, the chance for the patients to suffer from ADR from using those drugs can be predicted a priori by simple genetic tests. Secondly, the efficacy of targeted therapy drugs such as Cetuximab and Erlotinib, or non- targeted agents such as temozolomide and nitrosourea has been influenced by the presence of certain genetic or epigenetic markers in tumors. Lastly, microarray analysis to evaluate 70-gene expression profile in breast cancer samples has been shown in recent studies to predict probability of breast cancer recurrence. Patients whose tumors have been determined to have low probability score based on the gene expression profile may omit chemotherapy altogether, avoiding unnecessary therapeutic side effects. In summary, pharmacogenetic tests help patients, their caregivers, and doctors in deciding the best treatment options with favorable chance of success, as well as saving overall treatment costs.
药物遗传学广义上被理解为对导致药物反应差异的基因变异进行研究或临床检测。在癌症治疗中，药物遗传学的应用涵盖三个领域：避免药物不良反应（ADR）、选择治疗方案以及预测癌症复发。UGT1A1和DPYD基因发生变异的患者分别对伊立替康和5-氟尿嘧啶（5FU）高度敏感。因此，通过简单的基因检测可以预先预测患者使用这些药物发生ADR的可能性。其次，西妥昔单抗和厄洛替尼等靶向治疗药物，或替莫唑胺和亚硝基脲等非靶向药物的疗效受到肿瘤中某些基因或表观遗传标志物的影响。最后，最近的研究表明，通过微阵列分析评估乳腺癌样本中的70基因表达谱可以预测乳腺癌复发的可能性。根据基因表达谱确定肿瘤概率评分较低的患者可以完全省略化疗，避免不必要的治疗副作用。总之，药物遗传学检测有助于患者、其护理人员和医生决定最有可能成功的最佳治疗方案，同时节省总体治疗成本。
