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Translational Medicine / 转化医学Hereditary Endocrine Tumors, ACC Genetics

Constantine Stratakis

MD, DSc

🏢National Institute of Child Health and Human Development / NIH🌐USA

Scientific Director, Human Genetics and Genomics

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Key Contributions

👥Biography 个人简介

Constantine Stratakis has characterized multiple hereditary syndromes predisposing to adrenocortical tumors, including Carney complex caused by PRKAR1A mutations and McCune-Albright syndrome involving GNAS, and has elucidated cAMP signaling pathway dysregulation as a central mechanism in adrenal tumor formation. His work connecting these rare germline syndromes to ACC has improved genetic counseling and surveillance for at-risk families. He has also studied the high prevalence of TP53 germline mutations in pediatric ACC in Brazil, representing a distinct geographic and biological entity.

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🧪Research Fields 研究领域

Carney complex ACC hereditary
PRKAR1A mutation ACC adrenal
hereditary endocrine tumor syndromes
cAMP pathway ACC adrenal tumorigenesis
ACC pediatric Li-Fraumeni TP53 Brazil

🎓Key Contributions 主要贡献

Representative Works 代表性著作

📄Data Sources 数据来源

Last updated: 2026-04-01 | All information from publicly available academic sources

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