遗传性乳腺癌风险基因检测与咨询:NCCN指南解读与瑞金医院临床实践  

Hereditary breast cancer risk gene assessment and counseling:interpretation of NCCN guidelines and Ruijin Hospital clinical practice

作　　者：韩梦圆 陈小松[1] HAN Mengyuan;CHEN Xiaosong(Department of General Surgery,Comprehensive Breast Health Center,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China)

机构地区：[1]上海交通大学医学院附属瑞金医院普外科乳腺疾病诊治中心,上海200025

出　　处：《外科理论与实践》2024年第5期401-404,共4页Journal of Surgery Concepts & Practice

摘　　要：遗传性乳腺癌相关基因突变显著增加女性乳腺癌的发病风险,对此,美国国立综合癌症网络(NCCN)制定了《遗传/家族高风险评估指南》以指导这类基因突变携带者的遗传风险评估和咨询,为乳腺癌的预防、筛查和治疗提供必要信息.本文结合上海交通大学医学院附属瑞金医院的临床实践经验对《遗传/家族高风险评估指南》进行解读.Hereditary breast cancer-related gene mutations significantly increase the risk of breast cancer in women.In this regard,the National Comprehensive Cancer Network(NCCN)Clinical Practice Guidelines in Genetic/Familial High-Risk Assessment was developed to guide genetic asscssment and counseling in mutation carriers of breast cnncer risk genes,providing crucial information for the prevention,screening and treatment of breast cancer.This article provided an interpretation of the NCCNClinical Practice Guidelines in Genetic/Familial High-Risk Assessment,integrating the clinical practice experience of Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine.

关 键 词：乳腺癌 遗传风险基因 基因突变 NCCN指南 实践 

分 类 号：R737.9[医药卫生—肿瘤]