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Endocr Relat Cancer. 2018 Aug;25(8):T221-T244. doi: 10.1530/ERC-18-0160.

65 YEARS OF THE DOUBLE HELIX: Endocrine tumour syndromes in children and adolescents.

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Division of Hematology-OncologyDepartment of Pediatrics, The Hospital for Sick Children, Toronto, Canada.
Section on Endocrinology and Genetics The Eunice Kennedy Shriver Institute of Child Health and Human DevelopmentNational Institutes of Health, Bethesda, Maryland, USA.
Department of Pharmacology and ToxicologyUniversity of Toronto, Toronto, Canada.
Department of Human GeneticsResearch Institute of the McGill University Health Centre, and Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, Canada


As medicine is poised to be transformed by incorporating genetic data in its daily practice, it is essential that clinicians familiarise themselves with the information that is now available from more than 50 years of genetic discoveries that continue unabated and increase by the day. Endocrinology has always stood at the forefront of what is called today 'precision medicine': genetic disorders of the pituitary and the adrenal glands were among the first to be molecularly elucidated in the 1980s. The discovery of two endocrine-related genes, GNAS and RET, both identified in the late 1980s, contributed greatly in the understanding of cancer and its progression. The use of RET mutation testing for the management of medullary thyroid cancer was among the first and one of most successful applications of genetics in informing clinical decisions in an individualised manner, in this case by preventing cancer or guiding the choice of tyrosine kinase inhibitors in cancer treatment. New information emerges every day in the genetics or system biology of endocrine disorders. This review goes over most of these discoveries and the known endocrine tumour syndromes. We cover key genetic developments for each disease and provide information that can be used by the clinician in daily practice.


Li-Fraumeni syndrome; MEN1; endocrine tumour syndromes; genetics

[Indexed for MEDLINE]

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