| 摘要: |
| ［摘要］ 遗传因素对妇科肿瘤的发生发展有关键作用。遗传性妇科肿瘤综合征（HGCS）是胚系致病性突变引发的癌症易感性疾病，占每年所有新发恶性肿瘤的5%～10%，存在早发病、多原发肿瘤、家族聚集、常染色体显性遗传等特点，不仅会提高卵巢癌、子宫内膜癌等妇科恶性肿瘤的患病风险，还会影响患者生育力与后代健康。遗传咨询是HGCS管理的核心环节，可通过家族谱系分析、风险分层评估、基因检测结果解读识别高风险人群，制订包含筛查与预防的个体化干预方案，已被证实可降低相关癌症发病率与特异性死亡率。中华医学会妇科肿瘤学分会组织专家编写的《妇科肿瘤遗传咨询指南（2025版）》总结了常见HGCS的致病基因谱、风险评估模型、检测策略等内容，目的是规范我国妇科肿瘤遗传咨询临床实践。该文结合临床对该指南进行解读，希望提升我国妇科肿瘤遗传咨询服务的可及性与规范性。 |
| 关键词: 遗传性妇科肿瘤综合征 妇科肿瘤 遗传咨询 基因检测 风险评估 个体化干预 指南解读 |
| DOI：10.3969/j.issn.1674-3806.2026.08.03 |
| 分类号:R 737.3 |
| 基金项目:重庆市科卫联合医学科研项目（编号：2025MSXM073）；重庆市技术创新与应用发展专项重点项目（编号：CSTB2025TIAD-KPX0006） |
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| Interpretation of the Guidelines for Genetic Counseling in Gynecologic Oncology(2025 Edition) |
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Huang Yiqin, Long Xingtao, Zou Dongling
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Center for Gynecologic Oncology, Chongqing University Cancer Hospital, Chongqing 400030, China
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| Abstract: |
| ［Abstract］ Genetic factors play a pivotal role in the occurrence and progression of gynecologic neoplasms. Hereditary gynecological cancer syndromes(HGCS) are cancer susceptibility disorders caused by pathogenic germline mutations, accounting for 5%-10% of all newly diagnosed malignant tumors each year. HGCS are characterized by early onset, multiple primary tumors, familial aggregation, and autosomal dominant inheritance. HGCS not only increase the risk of gynecologic malignancies such as ovarian cancer and endometrial cancer, but also adversely affect the patients′ fertility and offspring health. Genetic counseling is a cornerstone of HGCS management, enabling identification of high-risk individuals through family pedigree analysis, risk stratification assessments and interpretation of genetic testing results, thereby facilitating the development of personalized intervention strategies incorporating screening and prevention measures. This approach has been proven to reduce the incidence and specific mortality rates of related cancers. The Gynecologic Oncology Society of the Chinese Medical Association has organized experts to compile the Guidelines for Genetic Counseling in Gynecologic Oncology(2025 Edition), which summarizes the pathogenic gene profiles, risk assessment models, and detection strategies for the common HGCS, aiming to standardize the clinical practice of genetic counseling for gynecologic oncology in China. This paper provides a clinical interpretation of the guidelines to improve the accessibility and standardization of genetic counseling services for gynecologic oncology in China. |
| Key words: hereditary gynecological cancer syndromes(HGCS) gynecologic neoplasms genetic counseling genetic testing risk assessment personalized intervention guideline interpretation |
