遗传性乳腺癌卵巢癌综合征相关卵巢癌研究进展  

Research progress on hereditary breast and ovarian cancer syndrome-related ovarian cancer

作　　者：王佩晨 宋文静 王晶[1] 王晓慧[2] WANG Peichen;SONG Wenjing;WANG Jing;WANG Xiaohui(The First School of Clinical Medicine,Lanzhou University,Lanzhou,Gansu 730000,China;Department of Obstetrics and Gynecology,the First Hospital of Lanzhou University,Lanzhou,Gansu 730013,China)

机构地区：[1]兰州大学第一临床医学院,甘肃兰州730000 [2]兰州大学第一医院妇产科,甘肃兰州730013

出　　处：《中国优生与遗传杂志》2024年第7期1540-1543,共4页Chinese Journal of Birth Health & Heredity

摘　　要：遗传性乳腺癌-卵巢癌综合征(HBOC)是一种遗传性癌症易感综合征,是指携带BRCA1或BRCA2基因胚系突变的妇女,终身卵巢癌及乳腺癌的发病风险较大,且同时存在其他系统癌症发生风险。HBOC相关卵巢癌(HBOC-OC)是HBOC常发生且预后相对好的癌症之一。随着基因检测的快速发展,早期筛查对患者及其一级亲属预防相关疾病的发生具有重大意义。本文对近年来HBOC-OC的遗传特点、筛查及治疗、预防等研究进展进行回顾与总结,以期为临床诊治提供参考。随着对肿瘤发病机制的深入研究,HBOC的诊治将转变向更加预测性、预防性的模式。Hereditary breast and ovarian cancer syndrome(HBOC)is an inherited cancer susceptibility syndrome,which refers to women who carry germline mutations in BRCAI or BRCA2 genes,and have a higher lifelong risk of ovarian cancer and breast cancer,and also have the risk of other systemic cancers.HBOC-related ovarian cancer(HBOC-ovarian can-cer)is one of the cancers that occurs frequently in HBOC and has a relatively good prognosis.With the rapid development of genetic testing,early screening is of great significance for patients and their first-degree relatives to prevent the occurrence of related diseases.This article reviews and summarizes the research progress on the genetic characteristics,screening,treatment,and prevention of HBOC-OC in recent years,in order to provide reference for clinical diagnosis and treatment.With the in-depth study of tumor pathogenesis,the diagnosis and treatment of HBOC will shift to a more predictive and preventive model.

关 键 词：遗传性乳腺癌-卵巢癌综合征 BRCA基因 非BRCA基因 同源重组修复缺陷 筛查 

分 类 号：R737.31[医药卫生—肿瘤] R737.9[医药卫生—临床医学]