Carney complex review: Genetic features. / Revisión del complejo de Carney: Aspectos genéticos.
Endocrinol Diabetes Nutr (Engl Ed)
; 65(1): 52-59, 2018 Jan.
Article
em En, Es
| MEDLINE
| ID: mdl-29162369
ABSTRACT
Carney complex is a multiple neoplasia syndrome having endocrine and non-endocrine manifestations. Diagnostic criteria include myxoma, lentigines, and primary pigmented nodular adrenocortical disease, amongst other signs/symptoms. In most cases it is an autosomal dominant disease, and diagnosis therefore requires study and follow-up of the family members. Inactivating mutations of the PRKAR1A gene were identified as the main cause of the disease, although since 2015 other disease-related genes, including PRKACA and PRKACB activating mutations, have also been related with Carney complex. This review will address the genetic aspects related to Carney complex.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
/
Tipos_de_cancer
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Outros_tipos
Base de dados:
MEDLINE
Assunto principal:
Síndromes Neoplásicas Hereditárias
/
Subunidades Catalíticas da Proteína Quinase Dependente de AMP Cíclico
/
Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico
/
Complexo de Carney
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Female
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Humans
/
Male
Idioma:
En
/
Es
Revista:
Endocrinol Diabetes Nutr (Engl Ed)
Ano de publicação:
2018
Tipo de documento:
Article