Risk Assessment and Fertility Counseling for Hereditary Gynecological Cancer Syndromes

遗传性妇科癌症综合征的风险评估和生育咨询

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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.

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