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

doi:10.16139/j.1007-9610.2024.05.06

外科理论与实践 ›› 2024, Vol. 29 ›› Issue (05): 401-404.doi: 10.16139/j.1007-9610.2024.05.06

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

韩梦圆, 陈小松()

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

收稿日期:2024-01-08 出版日期:2024-09-25 发布日期:2025-01-23
通讯作者: 陈小松，E-mail: chenxiaosong0156@hotmail.com

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

HAN Mengyuan, CHEN Xiaosong()

Department of General Surgery, Comprehensive Breast Health Center, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Received:2024-01-08 Online:2024-09-25 Published:2025-01-23

摘要/Abstract

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。

关键词: 乳腺癌, 遗传风险基因, 基因突变, NCCN指南, 实践

Abstract:

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 assessment and counseling in mutation carriers of breast cancer risk genes, providing crucial information for the prevention, screening and treatment of breast cancer. This article provided an interpretation of the NCCN Clinical 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.

Key words: Breast cancer, Hereditary risk gene, Gene mutation, NCCN guidelines, Practice

中图分类号:

R737.9

韩梦圆, 陈小松. 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[J]. 外科理论与实践, 2024, 29(05): 401-404.

HAN Mengyuan, CHEN Xiaosong. Hereditary breast cancer risk gene assessment and counseling: interpretation of NCCN guidelines and Ruijin Hospital clinical practice[J]. Journal of Surgery Concepts & Practice, 2024, 29(05): 401-404.

图/表 1

参考文献 15

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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

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