| 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（hereditary gynecological cancer syndromes，HGCS）是胚系致病性突变引发的癌症易感性疾病，占所有恶性肿瘤的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，它不仅会提高卵巢癌、子宫内膜癌等妇科恶性肿瘤的患病风险，还会影响患者生育能力与后代健康。遗传咨询是遗传性妇科肿瘤综合征管理的核心环节，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，制定包含筛查与预防的个性化干预方案，该方式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了《妇科肿瘤遗传咨询指南（2025版）》，该指南总结了常见遗传性妇科肿瘤综合征的致病基因谱、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，本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: 妇科肿瘤 遗传咨询 基因检测 多学科协作 风险评估 个体化干预 生育保护 指南解读 |
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| 基金项目:重庆市自然科学基金面上项目（编号：2024NSCQ-MSX0742）；重庆市科卫联合医学科研项目面上项目合同书（编号：2025MSXM073）。 |
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| Abstract: |
| Genetic factors play a pivotal role in the occurrence and progression of gynecological tumors. Hereditary gynecological cancer syndromes (HGCS) are cancer susceptibility disorders caused by germline pathogenic mutations, accounting for 5%–10% of all malignant tumors. They are characterized by early onset, frequent occurrence of primary tumors, familial aggregation, and autosomal dominant inheritance. These syndromes not only increase the risk of gynecological malignancies such as ovarian cancer and endometrial cancer but also adversely affect 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 Branch of the Chinese Medical Association has organized experts to compile the Guidelines for Genetic Counseling in Gynecologic Tumors (2025 Edition), which summarizes the pathogenic gene profiles, risk assessment models, and detection strategies for common hereditary gynecological cancer syndromes, aiming to standardize clinical practice in genetic counseling for gynecologic tumors in China. This article provides a clinical interpretation of these guidelines to enhance the accessibility and standardization of genetic counseling services for gynecologic tumors in China. |
| Key words: gynecologic neoplasms genetic counseling genetic testing multidisciplinary team risk assessment personalized intervention fertility preservation guideline interpretation |
