Endocrine Abstracts

There is a variety of adrenocortical tumors that can be responsible for different cortisol excess levels. Genomics allowed recently many progress in this field. Exome sequencing allowed to identify somatic activating mutations of the catalytic subunit of PKA (PRKACA) in cortisol secreting adenomas responsible for overt-Cushing. Combining pangenomic snp analysis and whole genome sequencing led to the identification of inactivating germline mutations of a new tumor supp...

Jérôme Bertherat is professor of Endocrinology at Paris Descartes University, Chief of the Endocrinology Department of Cochin Hospital, head of the National Center for Rare Adrenal Diseases and of the research team ‘Genomics and Signaling of Endocrine Tumors’ in the Cochin Institute (INSERM U1016 & CNRS UMR8104), Paris, France. He serves as the coordinator of the French National Network for Rar...