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首页> 外文期刊>Cell cycle >Aneuploidy-cancer predisposition syndromes: a new link between the mitotic spindle checkpoint and cancer.
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Aneuploidy-cancer predisposition syndromes: a new link between the mitotic spindle checkpoint and cancer.

机译：非整倍体癌症易感综合症：有丝分裂纺锤体检查点与癌症之间的新联系。

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Genetic cancer predisposition syndromes have been crucial to the identification of genes and pathways involved in carcinogenesis. Constitutional gene mutations segregating with distinctive cancer phenotypes provide unequivocal evidence of a gene's causal role in cancer. This type of evidence has been central in proving that oncogenes and tumor suppressor genes can cause human cancers, but has been lacking for genes implicated in generating aneuploidy. However, recently we identified mutations in the mitotic checkpoint gene BUB1B in an autosomal recessive condition characterized by mosaic aneuploidies and childhood cancers. This finding strongly suggests that aneuploidy is causally related to cancer development.
机译：遗传性癌症易感综合征对于鉴定与癌变有关的基因和途径至关重要。与独特的癌症表型分离的宪法基因突变为该基因在癌症中的因果作用提供了明确的证据。这种类型的证据在证明癌基因和抑癌基因可以引起人类癌症方面发挥了重要作用，但是缺乏与产生非整倍性有关的基因。但是，最近，我们在以镶嵌非整倍性和儿童期癌症为特征的常染色体隐性疾病中鉴定了有丝分裂检查点基因BUB1B中的突变。这一发现强烈表明，非整倍性与癌症的发展有因果关系。

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