肺癌：肿瘤中的ERBB2基因内激酶突变
Lung cancer: intragenic ERBB2 kinase mutations in tumours.
作者信息
Stephens Philip, Hunter Chris, Bignell Graham, Edkins Sarah, Davies Helen, Teague Jon, Stevens Claire, O'Meara Sarah, Smith Raffaella, Parker Adrian, Barthorpe Andy, Blow Matthew, Brackenbury Lisa, Butler Adam, Clarke Oliver, Cole Jennifer, Dicks Ed, Dike Angus, Drozd Anja, Edwards Ken, Forbes Simon, Foster Rebecca, Gray Kristian, Greenman Chris, Halliday Kelly, Hills Katy, Kosmidou Vivienne, Lugg Richard, Menzies Andy, Perry Janet, Petty Robert, Raine Keiran, Ratford Lewis, Shepherd Rebecca, Small Alexandra, Stephens Yvonne, Tofts Calli, Varian Jennifer, West Sofie, Widaa Sara, Yates Andrew, Brasseur Francis, Cooper Colin S, Flanagan Adrienne M, Knowles Margaret, Leung Suet Y, Louis David N, Looijenga Leendert H J, Malkowicz Bruce, Pierotti Marco A, Teh Bin, Chenevix-Trench Georgia, Weber Barbara L, Yuen Siu T, Harris Grace, Goldstraw Peter, Nicholson Andrew G, Futreal P Andrew, Wooster Richard, Stratton Michael R
机构信息
Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
出版信息
Nature. 2004 Sep 30;431(7008):525-6. doi: 10.1038/431525b.
The protein-kinase family is the most frequently mutated gene family found in human cancer and faulty kinase enzymes are being investigated as promising targets for the design of antitumour therapies. We have sequenced the gene encoding the transmembrane protein tyrosine kinase ERBB2 (also known as HER2 or Neu) from 120 primary lung tumours and identified 4% that have mutations within the kinase domain; in the adenocarcinoma subtype of lung cancer, 10% of cases had mutations. ERBB2 inhibitors, which have so far proved to be ineffective in treating lung cancer, should now be clinically re-evaluated in the specific subset of patients with lung cancer whose tumours carry ERBB2 mutations.
蛋白激酶家族是人类癌症中最常发生突变的基因家族，有缺陷的激酶酶正作为抗肿瘤治疗设计的有前景靶点进行研究。我们对120例原发性肺癌中编码跨膜蛋白酪氨酸激酶ERBB2（也称为HER2或Neu）的基因进行了测序，发现4%的病例在激酶结构域内存在突变；在肺癌的腺癌亚型中，10%的病例有突变。迄今为止已证明对治疗肺癌无效的ERBB2抑制剂，现在应该在肿瘤携带ERBB2突变的特定肺癌患者亚组中进行临床重新评估。
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