Sloane Mathew A, Ward Robyn L, Hesson Luke B
Adult Cancer Program, Lowy Cancer Research Centre and Prince of Wales Clinical School, UNSW Australia, Kensington, Sydney, New South Wales 2052 Australia.
The University of Queensland, Level 3 Brian Wilson Chancellery, Brisbane, Queensland 4072 Australia.
Clin Epigenetics. 2016 Apr 18;8:39. doi: 10.1186/s13148-016-0207-4. eCollection 2016.
In the January 2016 issue of Clinical Epigenetics, Quiñonez-Silva et al. (Clin Epigenetics 8:1, 2016) described a possible constitutional epimutation of the RB1 gene as a cause of hereditary predisposition to retinoblastoma. The term constitutional epimutation describes an epigenetic aberration in normal tissues that predisposes to disease. The data presented by Quiñonez-Silva et al. are interesting, but further analysis is required to demonstrate a constitutional epimutation in this family. Here, we define the criteria and describe the experimental approach necessary to identify an epigenetic aberration as a constitutional epimutation.
在《临床表观遗传学》2016年1月那期杂志中，基尼奥内斯 - 席尔瓦等人（《临床表观遗传学》8:1, 2016）描述了RB1基因一种可能的体质性表观突变，它是视网膜母细胞瘤遗传易感性的一个原因。术语“体质性表观突变”描述的是正常组织中易引发疾病的一种表观遗传畸变。基尼奥内斯 - 席尔瓦等人所展示的数据很有趣，但还需要进一步分析来证实这个家族中存在体质性表观突变。在此，我们定义了相关标准，并描述了将一种表观遗传畸变鉴定为体质性表观突变所需的实验方法。
