同源重组修复基因在卵巢癌中的研究进展  

Advances in Research of Homologous Recombination Repair Genes in Ovarian Cancer

作　　者：胡丹 杨永秀[1] 王欣[1] 李永霞 HU Dan;YANG Yong-Xiu;WANG Xin;LI Yong-Xia(The First Clinical Medical College of Lanzhou University,Key Laboratory of Gynecological Oncology of Gansu Province,Lanzhou 730000,China)

机构地区：[1]兰州大学第一临床医学院甘肃省妇科肿瘤重点实验室

出　　处：《国际妇产科学杂志》2019年第4期453-457,共5页Journal of International Obstetrics and Gynecology

摘　　要：卵巢癌是女性生殖器常见的三大恶性肿瘤之一,由于卵巢位于盆腔深部,起病隐匿,约70%~75%的患者出现症状时已达晚期,严重威胁着女性的健康。目前已知的大多数卵巢癌易感基因通过同源重组在修复DNA双链断裂中发挥作用,乳腺癌易感基因1(BRCA1)和BRCA2是卵巢癌最常见的两大基因,是双链DNA断裂同源重组修复过程中的关键因子,以其为核心组成的BRCA肿瘤抑制因子网络中多种致病性突变均可损伤基因组的完整性和稳定性,增加卵巢癌的易感性。多项研究表明同源重组相关基因或蛋白的表达与肿瘤对放疗及基因药物的敏感性相关,并可成为生物标记物被用于肿瘤的个体化治疗。现对同源重组修复通路中与卵巢癌关联最密切的几种重要基因突变与卵巢癌的关系进行初步探讨,为卵巢癌的筛查和早期预防奠定临床基础。Ovarian cancer is one of the three major malignant tumors common in female genitalia.Because the ovary is located in the deep pelvic cavity,the onset is concealed.About 70%-75%of patients have reached the advanced stage when symptoms appear,which seriously threatens women′s health.Most of the ovarian cancer susceptibility genes currently known play a role in repairing DNA double-strand breaks by homologous recombination:BRCA1 and BRCA2 are the two most common genes in ovarian cancer,which are the key factors in the process of homologous recombination repair of double-stranded DNA breaks.The multiple pathogenic mutations in the BRCA tumor suppressor network with its core composition can damage the integrity and stability of genomics and increase the susceptibility of ovarian cancer.A number of studies have shown that the expression of homologous recombination-related genes or proteins is related to the sensitivity of tumors to radiotherapy and genotoxic drugs,and can be used as a biomarker for individualized treatment of tumors.In this paper,the relationship between several important gene mutations closely related to ovarian cancer in the homologous recombination repair pathway and ovarian cancer is discussed,which lays a clinical foundation for the screening and early prevention of ovarian cancer.

关 键 词：卵巢肿瘤 同源重组 重组 遗传 基因突变 精准治疗 

分 类 号：R737.31[医药卫生—肿瘤]