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Bcl10基因的突变在结直肠癌中非常罕见。

Mutations in Bcl10 are very rare in colorectal cancer.

作者信息

Stone J G, Rowan A J, Tomlinson I P, Houlston R S

机构信息

Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.

出版信息

Br J Cancer. 1999 Jul;80(10):1569-70. doi: 10.1038/sj.bjc.6690562.

Abstract

Bcl10 is a recently identified gene reported to be involved commonly in human malignancy (Willis et al (1999) Cell 96: 1-20). To investigate whether it is frequently mutated in colorectal cancer we have analysed a series of 132 colorectal cancers and eight colorectal cancer cell lines for mutations in Bcl10. One feature of the Bcl10 gene is that it harbours two polyadenine tracts. These repeating elements in genes can be prone to a high rate of mutation if there is defective mismatch repair. To examine the possibility that Bcl10 may be preferentially mutated in mismatch repair-deficient cancers, 49 of the tumours and cell lines were known to be replication error (RER)-positive and, of these, ten were from individuals harbouring germline mutations in hMLH1 or hMSH2. No pathogenic mutations were detected in the tumours and only one mutation was found in the colorectal cancer cell lines. These results indicate that Bcl10 is unlikely to be involved in the pathways of colorectal carcinogenesis.

摘要

Bcl10是最近发现的一个基因,据报道它通常参与人类恶性肿瘤的发生(Willis等人,《细胞》,1999年,第96卷,第1 - 20页)。为了研究它在结直肠癌中是否频繁发生突变,我们分析了132例结直肠癌和8个结直肠癌细胞系中Bcl10基因的突变情况。Bcl10基因的一个特点是它含有两个多聚腺嘌呤序列。如果错配修复存在缺陷,基因中的这些重复元件可能容易发生高频率突变。为了检验Bcl10在错配修复缺陷型癌症中可能优先发生突变的可能性,已知49个肿瘤和细胞系为复制错误(RER)阳性,其中10个来自携带hMLH1或hMSH2种系突变的个体。在肿瘤中未检测到致病突变,在结直肠癌细胞系中仅发现1个突变。这些结果表明,Bcl10不太可能参与结直肠癌的发生途径。

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