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
王佩晨 1宋文静 1王晶 1王晓慧2
作者信息
- 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
- 折叠
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.
Abstract
Hereditary breast and ovarian cancer syndrome(HBOC)is an inherited cancer susceptibility syndrome,which refers to women who carry germline mutations in BRCA1 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BRC4基因/同源重组修复缺陷/筛查Key words
hereditary breast and ovarian cancer syndrome/BRCA/non-BRCA/HRD/screening引用本文复制引用
出版年
2024
NETL
NSTL
万方数据