Department of Obstetrics-Gynaecology, Royal Oldham Hospital, Pennine Accute Trust, Oldham OL12JH, UK.
3rd Department of Surgery, "AHEPA" University Hospital, Aristotle University of Thessaloniki, 55236 Thessaloniki, Greece.
Int J Mol Sci. 2019 Apr 14;20(8):1842. doi: 10.3390/ijms20081842.
The genetic and epigenetic factors that contribute to the malignant transformation of endometriosis are still under investigation. The objective of the present study was to investigate the genetic link between endometriosis and cancer by examining and correlating the latest clinical observations with biological experimental data. We collected updated evidence about the genetic relationship between endometriosis and cancers by conducting a comprehensive search of PubMed and Scopus databases, focusing on the papers published between January 2018 and January 2019. New insights into the mechanism of the malignant transformation of endometriosis have been published recently. The use of state-of-the-art techniques and methods, such as the genome-wide association study analysis and the weighted gene co-expression analysis, have significantly altered our understanding of the association between endometriosis and endometriosis-associated cancer development. Interestingly, the interactions formed between genes seem to play a pivotal role in the phenotypic expression of mutations. Therefore, the effect of single nucleotide polymorphisms and the function of the expression quantitative trait loci on genes' expression have been the subject of many recent works. In addition, it has been discovered that genes, the mutations of which have been related to the development of endometriosis, play a role as hub genes. This may lead to new areas of research for understanding the mechanism of malignant transformation of the disease. Significant steps forward have been made towards the identification of factors that control the malignant transformation of endometriosis. Still, due to rarity of the event, a better-organized scheme for sampling on a global level should be adopted.
导致子宫内膜异位症恶性转化的遗传和表观遗传因素仍在研究中。本研究的目的是通过检查和关联最新的临床观察与生物实验数据来研究子宫内膜异位症与癌症之间的遗传联系。我们通过全面搜索 PubMed 和 Scopus 数据库，重点关注 2018 年 1 月至 2019 年 1 月期间发表的论文，收集了关于子宫内膜异位症和癌症之间遗传关系的最新证据。最近发表了关于子宫内膜异位症恶性转化机制的新见解。最近，使用了最先进的技术和方法，如全基因组关联研究分析和加权基因共表达分析，极大地改变了我们对子宫内膜异位症和子宫内膜异位症相关癌症发展之间关联的理解。有趣的是，基因之间形成的相互作用似乎在突变的表型表达中起着关键作用。因此，单核苷酸多态性的影响和表达数量性状基因座对基因表达的功能已成为许多近期研究的主题。此外，还发现了与子宫内膜异位症发展相关的基因突变的基因作为枢纽基因发挥作用。这可能为理解疾病恶性转化的机制开辟新的研究领域。在确定控制子宫内膜异位症恶性转化的因素方面已经取得了重大进展。尽管如此，由于该事件的罕见性，应该在全球范围内采用更好组织的采样方案。
