DNA methylation, epimutations and cancer predisposition
DNA methylation, epimutations and cancer predisposition
复制标题
DOI：
10.1016/j.biocel.2008.09.006
复制
发表时间：
2009-01-01
影响因子：
4
通讯作者：
Kristensen, Lasse S.
中科院分区：
文献类型：
--
作者：
Dobrovic, Alexander;Kristensen, Lasse S.
由生殖细胞突变引起的遗传性癌症综合征产生具有特征性临床病理特征的不同cancel谱。在类似的散发性癌症谱中，许多这些遗传性癌症基因被甲基化沉默。在某些散发性癌症病例中，起始事件很可能是同一遗传性癌症基因的体细胞表观遗传失活（表突变）。最近，研究表明某些遗传性癌症基因的表观突变可能是先天性的，即存在于整个索马中。这些表观突变可能是遗传的或在生殖系中很早就出现。这些表观突变的遗传率非常低，因为在大多数情况下，它们通过生殖系的传递而被消除。在其他情况下，表位突变的倾向而不是表位突变本身被称为遗传。这些病例的特征是孟德尔遗传，可能与序列变异有关。其他序列变异和环境影响也可能影响整体水平的甲基化倾向。皇冠版权所有（C）2008由爱思唯尔有限公司出版。保留所有权利。
Hereditary cancer syndromes caused by germline mutations give rise to distinct spectra of cancel's with characteristic clinico-pathological features. Many of these hereditary cancer genes are silenced by methylation in a similar spectrum of sporadic cancers. It is likely that the initiating event in some of those cases of sporadic cancer is the somatic epigenetic inactivation (epimutation) of the same hereditary cancer gene. Recently, it has been shown that epimutations of certain hereditary cancer genes can be constitutional i.e. Present till throughout the soma. These epimutations may be inherited or arise very early in the germline. The heritability of these epimutations is very low as in most cases they are erased by passage through the germline. In other cases, predisposition to epimutations rather than the epimutations themselves call be inherited. These cases are characterised by Mendelian inheritance and are likely to be associated with sequence variants. Other sequence variants and environmental influences may also affect methylation propensity at a global level. Crown Copyright (C) 2008 Published by Elsevier Ltd. All rights reserved.