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  • Title: Inherited disposition to cardiac myxoma development.
    Author: Wilkes D, Charitakis K, Basson CT.
    Journal: Nat Rev Cancer; 2006 Feb; 6(2):157-65. PubMed ID: 16491075.
    Abstract:
    Carney complex is a genetic condition in which affected individuals develop benign tumours in various tissues, including the heart. Most individuals with Carney complex have a mutation in the PRKAR1A gene, which encodes the regulatory R1alpha subunit of protein kinase A - a significant component of the cyclic-AMP signalling pathway. Genetically engineered mutant Prkar1a mouse models show an increased propensity to develop tumours, and have established a role for R1alpha in initiating tumour formation and, potentially, in maintaining cell proliferation. Ongoing investigations are exploring the intersection of R1alpha-dependent cell signalling with other gene products such as perinatal myosin, mutation of which can also cause cardiac myxomas.
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