Clinical germline genetic testing for melanoma
Clinical germline genetic testing for melanoma
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DOI：
10.1016/s1470-2045(04)01469-x
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发表时间：
2004-05-01
期刊：
影响因子：
51.1
通讯作者：
Leachman, SA
中科院分区：
文献类型：
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作者：
Hansen, CB;Wadge, LM;Leachman, SA
对黑色素瘤易感基因CDKN2A(细胞周期蛋白依赖性激酶抑制因子2A)突变的临床基因检测现已可用。国际黑色素瘤遗传学联合会主张，CDKN2A的基因测试应该只作为研究方案的一部分进行。对其他癌症易感基因进行基因检测的经验表明，CDKN2A检测在预防和检测致命疾病方面具有巨大的潜力。然而，临床医生需要了解临床CDKN2A检测的好处和缺点，以便能够有利地使用它。在这里，我们检查CDKN2A是否符合美国临床肿瘤学会(ASCO)关于癌症易感性基因测试的建议。尽管遗传性黑色素瘤的基因检测应该尽可能在研究方案内进行，但如果注意到患者的选择、教育和咨询需求；有效的测试解释；以及适当的个人医疗管理的改变，它可能会在研究方案之外成功地完成。
Clinical genetic testing for mutations in CDKN2A (cyclin-dependent kinase inhibitor 2A), a melanoma susceptibility gene, is now available. The International Melanoma Genetics Consortium advocates that genetic testing for CDKN2A should be done only as part of a research protocol. Experience with genetic testing for other cancer-susceptibility genes indicates that CDKN2A testing has enormous potential for the prevention and detection of a deadly disease. However, clinicians need to understand the benefits and shortcomings of clinical CDKN2A testing so that it can be used advantageously. Here, we examine whether CDKN2A meets the recommendations of the American Society of Clinical Oncology (ASCO) for cancer-susceptibility genetic testing. Although genetic testing for hereditary melanoma should, whenever possible, occur within research protocols, it might be successfully done outside of research protocols if attention is paid to selection, education, and counselling needs of patients; valid test interpretation; and the changing of medical management in appropriate individuals.