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Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!Stergiopoulos SG; Stratakis CAFEBS Lett 2003[Jul]; 546 (1): 59-64Carney complex (CNC) is a multiple neoplasia syndrome that consists of endocrine (thyroid, pituitary, adrenocortical and gonadal), non-endocrine (myxomas, nevi and other cutaneous pigmented lesions), and neural (schwannomas) tumors. Primary pigmented nodular adrenocortical disease (PPNAD) is the most common endocrine manifestation of CNC and the only inherited form of Cushing syndrome known to date. In the search of genes responsible for CNC, two chromosomal loci were identified; one (17q22-24) harbored the gene encoding the type I-alpha regulatory subunit (RIalpha) of protein kinase A (PKA), PRKAR1A, a critical component of the cAMP signaling pathway. Here we review CNC and the implications of this discovery for the cAMP and/or PKA's involvement in human tumorigenesis.|Chromosomes, Human, Pair 17[MESH]|Cyclic AMP-Dependent Protein Kinase RIalpha Subunit[MESH]|Cyclic AMP-Dependent Protein Kinases/*genetics[MESH]|Genes, Tumor Suppressor[MESH]|Genetic Heterogeneity[MESH]|Humans[MESH]|Models, Biological[MESH]|Multiple Endocrine Neoplasia/diagnosis/*enzymology/*genetics[MESH]|Mutation/*genetics[MESH]|Syndrome[MESH] |
