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伯基特淋巴瘤突变的遗传特征。

The genetic landscape of mutations in Burkitt lymphoma.

机构信息

Duke Institute for Genome Sciences and Policy, Duke University, Durham, NC, USA.

出版信息

Nat Genet. 2012 Dec;44(12):1321-5. doi: 10.1038/ng.2468. Epub 2012 Nov 11.

Abstract

Burkitt lymphoma is characterized by deregulation of MYC, but the contribution of other genetic mutations to the disease is largely unknown. Here, we describe the first completely sequenced genome from a Burkitt lymphoma tumor and germline DNA from the same affected individual. We further sequenced the exomes of 59 Burkitt lymphoma tumors and compared them to sequenced exomes from 94 diffuse large B-cell lymphoma (DLBCL) tumors. We identified 70 genes that were recurrently mutated in Burkitt lymphomas, including ID3, GNA13, RET, PIK3R1 and the SWI/SNF genes ARID1A and SMARCA4. Our data implicate a number of genes in cancer for the first time, including CCT6B, SALL3, FTCD and PC. ID3 mutations occurred in 34% of Burkitt lymphomas and not in DLBCLs. We show experimentally that ID3 mutations promote cell cycle progression and proliferation. Our work thus elucidates commonly occurring gene-coding mutations in Burkitt lymphoma and implicates ID3 as a new tumor suppressor gene.

摘要

伯基特淋巴瘤的特征是 MYC 失调,但其他基因突变对疾病的贡献在很大程度上尚不清楚。在这里,我们描述了首例源自伯基特淋巴瘤肿瘤的全序列基因组和同一受影响个体的种系 DNA。我们进一步对 59 例伯基特淋巴瘤肿瘤的外显子组进行了测序,并将其与 94 例弥漫性大 B 细胞淋巴瘤(DLBCL)肿瘤的测序外显子组进行了比较。我们鉴定出了 70 个在伯基特淋巴瘤中经常发生突变的基因,包括 ID3、GNA13、RET、PIK3R1 以及 SWI/SNF 基因 ARID1A 和 SMARCA4。我们的数据首次将一些基因与癌症联系起来,包括 CCT6B、SALL3、FTCD 和 PC。ID3 突变发生在 34%的伯基特淋巴瘤中,而不在 DLBCL 中发生。我们通过实验表明 ID3 突变可促进细胞周期进程和增殖。因此,我们的工作阐明了伯基特淋巴瘤中常见的基因编码突变,并提示 ID3 是一个新的肿瘤抑制基因。

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