中文摘要：

RECQL4属于人类RECQ解旋酶家族,广泛参与DNA的复制和损伤修复.早期研究证实,RECQL4突变会导致RTS,BGS和RAPA 3种综合症,其中RTS和BGS患者都有很高的骨肉瘤和淋巴瘤发生倾向,此外,RECQL4还可通过维持线粒体和端粒的基因稳定避免多种肿瘤发生,RECQL4也被认为与血液恶性肿瘤爆发相关.最新实验结果提示,RECQL4缺陷的大部分骨肉瘤患者9号外显子缺失,RECQL4维持线粒体稳定的重要结合蛋白是p53,RECQL4是与生存素结合在一起避免乳腺癌细胞凋亡的,RECQL4过量表达通过增强MCM复制起始复合物活性而促进宫颈癌细胞等的增殖.但目前有关RECQL4与肿瘤关系的机制仍有许多不明之处,需进一步深入探讨.本文对RECQL4与肿瘤发生的关系作一综述,以期为癌症研究和治疗提供思路.

英文摘要：

RECQL4 is a member of human RECQ helicase family, which widely participates in the DNA replication and repair. Early researches have proved that the mutation of RECQL4 results in three syndromes named RTS.BGS and RAPA, of which the former two syndromes have a high risk of osteosarcomas and lymphomas. Moreover, RECQL4 can avoid the development of several kinds of cancers by the way of keeping the stability of mitochondrion and telomere genome. RECQL4 defect is also involved in hematologic malignancy. According to recent researches, most patients who suffers from osteosarcomas caused for RECQL4 defect are detected a mutation of exon 9. The major protein which RECQL4 interacts to keep the integrity of mtDNA is p53, and the interaction between RECQL4 and survivin has been proved to avoid the apoptosis of the breast cancer cells, the overexpression of RECQL4 can potentiate the activities of MCM complex to stimulate the proliferation of cervical cancer cells. However, many mechanisms about RECQL4 and cancer development are still unclear to us, so further studies need to be conducted. Therefore, we review the relationship between RECQL4 and cancer development in order to provide thoughts for further researches as well as treatments for cancer.