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Amplification of 8p11.23 in cancers and the role of amplicon genes

机译：扩增8p11.23在癌症中和扩增子基因的作用

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摘要

Copy number alterations are widespread in cancer genomes and are part of the genomic instability underlying the pathogenesis of neoplastic diseases. Recurrent copy number alterations of specific chromosomal loci may result in gains of oncogenes or losses of tumor suppressor genes and become entrenched in the genomic framework of certain types of cancers. The locus at chromosome 8p11.23 presents recurrent amplifications most commonly in squamous lung carcinomas, breast cancers, squamous esophageal carcinomas, and urothelial carcinomas. Amplification is rare in other cancers. The amplified segment involves several described oncogenes that may promote cancer cell survival and proliferation, as well as less well characterized genes that could also contribute to neoplastic processes. Genes proposed to be "drivers" in 8p11.23 amplifications include ZNF703, FGFR1 and PLPP5. Additional genes in the locus that could be functionally important in neoplastic networks include co-chaperone BAG4, lysine methyltransferase NSD3, ASH2L, a member of another methyltransferase complex, MLL and the mRNA processing and translation regulators LSM1 and EIF4EBP1. In this paper, genes located in the amplified segment of 8p11.23 will be examined for their role in cancer and data arguing for their importance for cancers with the amplification will be presented.
机译：拷贝数改变在癌症基因组中广泛存在，是肿瘤性疾病发病机制中基因组不稳定性的一部分。特定染色体位点的反复拷贝数改变可能导致癌基因的获得或肿瘤抑制基因的丢失，并在某些类型癌症的基因组框架中根深蒂固。染色体8p11的位点。23表现为复发性扩增，最常见于鳞状肺癌、乳腺癌、食管鳞癌和尿路上皮癌。在其他癌症中，扩增是罕见的。扩增片段涉及几种可能促进癌细胞存活和增殖的癌基因，以及可能有助于肿瘤过程的特征不太明确的基因。基因被认为是8p11的“驱动因素”。23个扩增产物包括ZNF703、FGFR1和PLPP5。该位点中在肿瘤网络中可能具有重要功能的其他基因包括辅伴侣BAG4、赖氨酸甲基转移酶NSD3、ASH2L、另一种甲基转移酶复合物MLL的成员以及mRNA处理和翻译调节因子LSM1和EIF4EBP1。本文研究了位于8p11扩增片段中的基因。将对23个基因在癌症中的作用进行检测，并提供数据证明它们对具有扩增功能的癌症的重要性。

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