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原发性非小细胞肺癌中p16(INK4)、p15(INK4B)和p18基因的基因内突变

Intragenic mutations of the p16(INK4), p15(INK4B) and p18 genes in primary non-small-cell lung cancers.

作者信息

Rusin M R, Okamoto A, Chorazy M, Czyzewski K, Harasim J, Spillare E A, Hagiwara K, Hussain S P, Xiong Y, Demetrick D J, Harris C C

机构信息

Department of Tumor Biology, Institute of Oncology, Gliwice, Poland.

出版信息

Int J Cancer. 1996 Mar 15;65(6):734-9. doi: 10.1002/(SICI)1097-0215(19960315)65:6<734::AID-IJC4>3.0.CO;2-#.

DOI:10.1002/(SICI)1097-0215(19960315)65:6<734::AID-IJC4>3.0.CO;2-#
PMID:8631583
Abstract

The p15(INK4B), p16(INK4) and p18 genes are members of the gene family coding for inhibitors of cyclin-dependent kinases 4 and 6. p15(INK4B) and p16(INK4) are located at 9p21, a chromosomal region frequently deleted in many human neoplasms. To examine the role of these 3 genes in lung carcinogenesis, somatic mutations within the genes were analyzed by single-strand conformation polymorphism and DNA sequencing in 71 non-small-cell lung cancer (NSCLC) samples. Six somatic mutations in the p16(INK4) gene and 3 cases with a polymorphic allele were observed. Loss of heterozygosity in the p18 gene was found in 1 sample. We did not find any intragenic mutations in the p15(INK4B) or p18 genes. We conclude that p16(INK4) mutations play a role in the formation of some NSCLCs, whereas the involvement of p15(INK4B) and p18 is uncommon.

摘要

p15(INK4B)、p16(INK4)和p18基因是编码细胞周期蛋白依赖性激酶4和6抑制剂的基因家族成员。p15(INK4B)和p16(INK4)位于9p21,这是一个在许多人类肿瘤中经常缺失的染色体区域。为了研究这三个基因在肺癌发生中的作用,通过单链构象多态性和DNA测序分析了71例非小细胞肺癌(NSCLC)样本中这些基因的体细胞突变。在p16(INK4)基因中观察到6个体细胞突变和3例具有多态性等位基因的病例。在1个样本中发现p18基因杂合性缺失。我们在p15(INK4B)或p18基因中未发现任何基因内突变。我们得出结论,p16(INK4)突变在某些NSCLC的形成中起作用,而p15(INK4B)和p18的参与并不常见。

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