妇科肿瘤遗传咨询专家共识（2023年版）

doi:10.19401/j.cnki.1007-3639.2023.11.010

摘要/Abstract

摘要：

随着高通量基因组测序技术的不断成熟，人们深刻认识到遗传因素在妇科肿瘤的发生、发展中具有重要作用，肿瘤遗传咨询也随之广泛应用于肿瘤精准筛查、诊断、治疗及预防等方面。2023年3—9月，20余位来自中国三级妇产科医院/妇幼保健院联盟妇科肿瘤遗传咨询协作组和中国抗癌协会中西整合子宫内膜癌专业委员会的妇科肿瘤临床专家，以及流行病学、循证医学研究的多学科专家共同参与，经过前期临床问题调研并召开方法学专家专题会和妇科肿瘤临床专家编写会反复讨论，起草了《妇科肿瘤遗传咨询专家共识（2023年版）》。本共识围绕制定背景、遗传性妇科肿瘤的特征及常见类型、遗传性妇科肿瘤检测、遗传咨询的适用群体、遗传咨询流程及咨询内容、相关资源推荐等多个方向，参照牛津大学循证医学中心证据分级系统，最终形成16条专家共识及推荐意见。希望通过本共识，提高妇科肿瘤临床工作者对于遗传性肿瘤的识别，有助于为患者提供更精准的诊断和治疗，也为其家系成员提供有效的预防和生殖管理措施。本共识将根据妇科肿瘤诊疗和遗传咨询相关领域的发展定期进行更新。

关键词: 妇科肿瘤, 遗传因素, 遗传咨询, 专家共识

Abstract:

With the increasing applications of high-throughput genome sequencing technology, there is a growing recognition of the important roles of genetic factors in the occurrence and development of gynecological tumors. Genetic counseling is widely adopted in various aspects of precision medicine in tumor screening, diagnosis, treatment and prevention. From March to September 2023, more than 20 clinical experts in gynecological oncology from Gynecologic Oncology Genetic Counseling Collaboration Group, Chinese Tertiary Obstetrics and Gynecology Hospital/Materning and Child Healthcare Hospital Alliance and Integrated Chinese and Western Endometrial Cancer Professional Committee, Chinese Anti-Cancer Association, collaborated with multidisciplinary experts in epidemiology and evidence-based medicine research. Together, We conducted preliminary research on clinical issues, held special meetings with methodology experts, and convened extensive discussions with the clinical experts in gynecological oncology to draft the “expert consensus on genetic counseling in gynecological oncology (2023 edition)”. This consensus covers various aspects, including the background, characteristics and common types of hereditary tumors, genetic tumor testing, eligible populations for genetic counseling, the process and content of genetic counseling, as well as recommended resources. It follows the evidence grading system of the Oxford Centre for Evidence-Based Medicine and ultimately presents 16 expert consensus statements and recommendations. We hope that this consensus will empower clinical practitioner in gynecological oncology to better identify hereditary tumors, enabling them to provide more accurate diagnosis and treatment for patients, as well as effective preventative measures and reproductive management for their family members. This consensus will be periodically updated to align with the advancements in diagnosis and treatment of gynecological tumors and genetic counseling related fields.

Key words: Gynecological oncology, Genetic factors, Genetic counseling, Expert consensus

中图分类号:

R737.3

. 妇科肿瘤遗传咨询专家共识（2023年版）[J]. 中国癌症杂志, 2023, 33(11): 1041-1064.

图/表 1

参考文献 124

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推荐强度	证据级别	描述
A	1a	同质RCT的系统评价
	1b	单个RCT
	1c	全或无病案系列
B	2q	同质队列研究评价
	2b	单个队列研究（包括低质量RCT，如随访率<80%）
	2c	结果研究，生态研究
	3a	同质病例对照研究的系统评价
	3b	单个病例对照研究
C	4	病例系统研究（包括低质量队列研究和病例对照研究）
D	5	基于经验且未经严格论证的专家意见