Characterisation of a GNAS variant linked to cortisol-producing adrenocortical adenoma

• Published in: Endocrine oncology Vol. 5; no. 1; p. e250009
• Main Authors: Jamaluddin, Aqfan, Wyatt, Rachael, Pasaliu, Andreea, Ruggles, Oliver, Calebiro, Davide, Gorvin, Caroline M, Ronchi, Cristina L
• Format: Journal Article
• Language: English
• Published: England Bioscientifica Ltd 01.01.2025
• Subjects: cAMP/PKA signalling; ACTH receptor; somatic mutation; cortisol-producing adenomas; G protein

Adrenocortical adenomas are frequent in the general population and can be associated with autonomous cortisol excess, increasing morbidity and mortality. Altered cAMP/PKA signalling is common in sporadic cortisol-producing adenomas, typically due to somatic activating mutations in the catalytic subu...