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Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!
Author(s) -
Stergiopoulos Sotirios G.,
Stratakis Constantine A.
Publication year - 2003
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(03)00452-6
Subject(s) - carney complex , biology , endocrine system , cancer research , carcinogenesis , multiple endocrine neoplasia , multiple endocrine neoplasia type 2 , gene , protein kinase a , germline , germline mutation , mutation , endocrinology , genetics , kinase , hormone
Carney 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‐α regulatory subunit (RIα) 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.