ARID1A基因突变在子宫内膜异位症及其相关卵巢肿瘤中的研究进展

发布时间：2019-01-04 07:13

【摘要】：染色质重塑复合物相关基因在肿瘤中频繁地发生突变,这种现象引起越来越多研究者的关注。然而,对于染色质重塑复合物相关基因的突变是否与肿瘤的发生有关,以及突变发生于病变的哪一阶段,甚至是否与肿瘤的浸润转移有关等研究甚少。AT丰富结合域1A(ARID1A)基因是SWI/SNF染色质重塑复合物的一个关键组分,其可通过改变某些基因周围染色质的结构调控基因的转录、DNA合成以及DNA损伤的修复。近年来随着基因测序技术的应用,研究发现ARID1A在肝癌、乳腺癌、胃癌、卵巢癌等肿瘤中频繁发生突变,这些突变导致ARID1A蛋白在肿瘤中的表达降低,由此推测ARID1A可能是一个潜在的抑癌基因。对ARID1A基因的结构、生物学功能及在子宫内膜异位症、卵巢透明细胞癌和卵巢子宫内膜样腺癌中的缺失以及与临床预后之间的关系等方面做一综述,从而为今后肿瘤的诊断、治疗提供新思路。
[Abstract]:Chromatin remodeling complex associated genes frequently mutate in tumors, which has attracted more and more attention. However, whether mutations in chromatin remodeling complex related genes are associated with tumorigenesis, and at which stage of the lesion, There are few studies on whether tumor invasion and metastasis are involved. AT rich binding domain 1A (ARID1A) gene is a key component of SWI/SNF chromatin remodeling complex. It regulates gene transcription, DNA synthesis and repair of DNA damage by altering the structure of chromatin around some genes. In recent years, with the application of gene sequencing technology, it has been found that ARID1A frequently mutates in liver cancer, breast cancer, gastric cancer, ovarian cancer and other tumors. These mutations lead to the decrease of ARID1A protein expression in tumor. It is suggested that ARID1A may be a potential tumor suppressor gene. The structure, biological function, loss of ARID1A gene in endometriosis, ovarian clear cell carcinoma and ovarian endometrioid adenocarcinoma, and their relationship with clinical prognosis were reviewed. Treatment provides new ideas.
【作者单位】：中国医学科学院北京协和医学院北京协和医院;
【分类号】：R711.71;R737.31

【共引文献】