生物谷报道：基因分析已经使对癌症患者进行个性化药物治疗成为可能，并从而提高治疗效果，降低可能的毒性。 Navarra大学医院生物技术实验室的研究小组，通过与该大学应用医学研究中心（CIMA）的药物基因组学实验室的紧密协作，对患有肺癌、结肠癌以及某些种类肉瘤的患者进行了基因分析，以预测药物对其的作用。
对被称作表皮生长因子受体（EGFR）的基因变异进行的研究有助于确定一类新的药物对肿瘤患者的作用。这类药物是作用于表皮生长因子受体的酪氨酸 quinase酶抑制剂。表皮生长因子受体可在肺癌患者身上找到。 同样的，通过测定在血小板源生长因子受体α（PDGFR-alfa）某些特定的基因片段上及c-kit基因上所出现的基因变化，可以精确地确定在某些胃肠道肉瘤中，哪种治疗方法会更有效。 Nivarra 大学医院的肿瘤科及该大学的应用医学研究中心（CIMA）正就这一事项开展合作，在对患者进行治疗前，使用肿瘤研究知识，将这些基因变化鉴别出来。
研究人员们正在对基因变化进行分析，以确定某些参数，从而了解哪些药物对肿瘤—尤其是肺癌、结肠癌和肉瘤—有最好的作用。 通过这一方法，研究人员们可确定哪种治疗方法对患者效果更好。同时，还能了解这些药物可能会产生的毒性作用。
研究人员们对血液样本或存在有某些变异或多形的癌症组织进行基因分析。根据分析结果做出预测，哪些药物对特定病人最适合。通过分析可以知道，对抗肿瘤哪种治疗方案最有效，在患者身上使用这一治疗方案可能会出现哪些副作用。 这样一来，就可以为每个患者提供个性化的更好的治疗方案。
研究人员们还对某些被称作多形的基因变体进行分析，以预测在使用某些抗肿瘤药物进行治疗时，毒性增加的危险。为每位患者提供最适宜的药物意味着诸如疲劳、消化道不适，皮肤的反应、腹泻、呕吐以及肝及肾的变化等药物毒性症状的减少，从而改善患者的生活质量。
不同研究小组进行的许多研究项目已经证实，使用这些标记物对药物效果及毒性进行衡量，可以为患者提供更个性化的治疗方案。
原文出处：
http://www.medicalnewstoday.com/medicalnews.php?newsid=64601
Genetic Analyis Enables Personalization Of Certain Cancer Treatments
Article Date: 12 Mar 2007 - 2:00 PDT
Genetic analysis has enabled the personalisation of the pharmaceutical treatment of patients with cancer, enhancing the therapeutic efficacy and minimising possible toxicity. The Biotechnology Laboratory team at the University Hospital (University of Navarra), in close collaboration with the Pharmacogenomics laboratory at the Centre for Applied Medical Research (CIMA) of the same University, undertook these analyses to predict patients' responses to pharmaceutical drugs in cancer of the lung, the colon and certain types of sarcoma.
Research into the mutations of a gene known as EGFR that can be found altered in lung cancer may help to determine the response of a new group of pharmaceutical - the tyrosine quinase inhibitors of the epidermic growth factor receptor. Also, the presence of genetic changes in specific fragments of PDGFR-alfa genes as well a sin the c-kit gene can pinpoint which treatment is likely to be more efficacious in certain gastrointestinal sarcomas. In this respect, the Department of Oncology at the University Hospital (University of Navarra) and the Centre for Applied Medical Research (CIMA) of the same University are collaborating in the identification of these genetic changes based on the study of the tumour prior to the application of treatment in the patient.
We are currently analysing genetic changes which will help us define the parameters needed to interpret what the best set of pharmaceutical drugs might be to act on certain tumours, particularly cancers of the lung, of the colon and sarcomas.
In this way we can identify how patients best respond to a specific treatment. At the same time, we understand the toxicity profile that may occur using these medicinal drugs.
Procedure
The procedure consists of a genetic analysis of a blood sample or of the cancerous tissue where the existence of certain mutations or polymorphisms are observed and enable us to predict what drugs are the most suitable for that particular patient. The analysis provides us with information about the most effective therapeutic option against the tumour, as well as what the potential side-effects are of this treatment on the patient. In this way a better therapeutic selection and individualisation for each patient is achieved.
The analysis of certain genetic variants called polymorphisms help to predict an increased toxicity risk due to treatment with certain antineoplasic pharmaceuticals. Providing the most suitable drug to each patient will mean reducing the symptoms of the toxicity - fatigue, digestive indisposition, cutaneous reaction, diarrhoea, vomiting, as well as alterations in the liver and kidney. In this way the patient will have a better quality of life.
A number of research projects undertaken by different teams have confirmed the use of these markers for response and toxicity and their role in drawing up a more individualised therapeutic plan.
相关基因：
EGFR
Official Symbol: EGFR and Name: epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) [Homo sapiens]
Other Aliases: ERBB, ERBB1, mENA
Other Designations: avian erythroblastic leukemia viral (v-erb-b) oncogene homolog; cell growth inhibiting protein 40; epidermal growth factor receptor; truncated epidermal growth factor receptor
Chromosome: 7; Location: 7p12
MIM: 131550
GeneID: 1956
KIT
Official Symbol: KIT and Name: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog [Homo sapiens]
Other Aliases: C-Kit, CD117, SCFR
Chromosome: 4; Location: 4q11-q12
MIM: 164920
GeneID: 3815
