A Large Family with Carney Complex Caused by the S147G PRKAR1A Mutation Shows a Unique Spectrum of Disease Including Adrenocortical Cancer | Zendy

João Anselmo | Zendy; Sandra Medeiros | Zendy; Victor Alves Carneiro | Zendy; Elizabeth Greene | Zendy; Isaac Lévy | Zendy; Maria Nesterova | Zendy; Charalampos Lyssikatos | Zendy; Anélia Horvath | Zendy; J. Aidan Carney | Zendy; Constantine A. Stratakis | Zendy

Open Access

A Large Family with Carney Complex Caused by the S147G PRKAR1A Mutation Shows a Unique Spectrum of Disease Including Adrenocortical Cancer

Author(s) -

João Anselmo,

Sandra Medeiros,

Victor Alves Carneiro,

Elizabeth Greene,

Isaac Lévy,

Maria Nesterova,

Charalampos Lyssikatos,

Anélia Horvath,

J. Aidan Carney,

Constantine A. Stratakis

Publication year - 2011

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2011-2244

Subject(s) - carney complex , loss of heterozygosity , mutation , point mutation , cancer research , biology , genetics , medicine , gene , allele

Most tumors in Carney complex (CNC) are benign, including primary pigmented nodular adrenocortical disease (PPNAD), the main endocrine tumor in CNC. Adrenocortical cancer (AC) has never been observed in the syndrome. Herein, we describe a large Azorean family with CNC caused by a point mutation in the PRKAR1A gene coding for type 1-α (RIα) regulatory subunit of the cAMP-dependent protein kinase A, in which the index patient presented with AC.

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