Detection of PRKAR1A gene mutations in sporadic cardiac myxomas: a study of 24 cases

Abstract excerpt

The benign neoplasm cardiac myxoma represents one of the hallmarks of Carney complex (CNC), a familial multiple neoplasia syndrome. About 80% of the index cases have germline mutations in PRKAR1A encoding the RIα regulatory subunit of cAMP-dependent protein kinase A (PKA). However, the role of PRKAR1A gene mutations in the pathogenesis of non-CNC-associated sporadic cardiac myxoma is less well established. Here,...

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