拷贝数变异在妇科恶性肿瘤中的研究进展

摘要

Copy number variations (CNVs) can serve as significant disease susceptibility markers in many disorders. The availability of a large number of chromosomal copy number profiles in both malignant and normal tissues in cancer patients presents an opportunity to characterize not only somatic alterations but also germline CNVs, which may confer increased risk for cancer. The determination methods of CNVs mainly includes the gene chip technology, high throughput sequencing, real-time quantitative PCR and FISH, etc. The most important method is the gene chip technology. At present the study of CNVs in gynecologic malignant tumor is relatively limited. The article focus on researching that CNVs is closely related to some tumor disease of gynaecology, such as ovarian cancer, cervical cancer, endometrial cancer. Comprehensive mining of copy number variations and bioinformatics analysis, understanding of the progress of the gynecological malignant tumors, degradation mechanism, and provide new ideas and methods for tumor prevention, diagnosis and treatment.%在许多疾病中，拷贝数变异（copy number variations，CNVs）可作为有意义的疾病易感标志。从患者癌变和正常组织内获得的大量染色体拷贝数图谱不仅可以反映机体的变化，还能反映增加患癌风险的种系CNVs。测定CNVs的方法主要包括基因芯片技术、高通量测序、实时定量聚合酶链反应技术、荧光原位杂交等，其中基因芯片技术最为突出。目前对妇科恶性肿瘤中CNVs变化的研究还较为有限。综述CNVs与一些妇科恶性肿瘤的密切关联，例如卵巢癌、宫颈癌、子宫内膜癌等，并对相关CNVs进行综合挖掘及生物信息学分析，从而更好地理解妇科恶性肿瘤的进展、恶化机制，为肿瘤的防治，诊断及治疗等方面提供新的思路和方法。