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遗传性妇科癌症综合征的风险评估与生育咨询

Risk Assessment and Fertility Counseling for Hereditary Gynecological Cancer Syndromes.

作者信息

Zhao Mei, Teng Xiao-Ming, Yan Qiang, Hao Fan

机构信息

Reproductive Medical Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, P.R. China.

出版信息

Cancer Med. 2025 Sep;14(17):e71206. doi: 10.1002/cam4.71206.

Abstract

OBJECTIVE

To review the genetic basis, clinical characteristics, and management strategies of hereditary gynecologic cancers associated with hereditary cancer syndromes.

METHODS

Literature on germline mutations, inheritance patterns, clinical manifestations, and fertility preservation strategies was reviewed.

RESULTS

Germline pathogenic mutations, predominantly inherited in an autosomal dominant manner, increase susceptibility to gynecologic tumors with varying risks. Genomic sequencing has facilitated identification of high-risk individuals, underscoring the importance of tailored prevention, early detection, and treatment. Standardized counseling supports risk assessment, fertility preservation, and the formulation of individualized management strategies.

CONCLUSION

Comprehensive genetic counseling and precision-based approaches are essential for effective prevention, diagnosis, and treatment of hereditary gynecologic cancers, while also addressing fertility preservation in affected patients.

摘要

目的

回顾与遗传性癌症综合征相关的遗传性妇科癌症的遗传基础、临床特征和管理策略。

方法

对有关胚系突变、遗传模式、临床表现和生育力保存策略的文献进行综述。

结果

胚系致病突变主要以常染色体显性方式遗传,增加了患妇科肿瘤的易感性,风险各异。基因组测序有助于识别高危个体,凸显了量身定制预防、早期检测和治疗的重要性。标准化咨询支持风险评估、生育力保存及个性化管理策略的制定。

结论

全面的遗传咨询和基于精准医学的方法对于遗传性妇科癌症的有效预防、诊断和治疗至关重要,同时也要解决受影响患者的生育力保存问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5fd2/12405969/044391344769/CAM4-14-e71206-g001.jpg

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