Searchable abstracts of presentations at key conferences in endocrinology

ea0090ep33 | Adrenal and Cardiovascular Endocrinology | ECE2023

A case of Merkel cell carcinoma in the CNC 1 (Carney complex 1) gene positive family with a rare component of the Carney complex

Nasrullayeva Fidan , Bayraktar Fırat , Unal Mehmet Cağrı , Semiz Gokcen Gungor

Introduction: CNC (Carney complex) is a rare inherited autosomal dominant syndrome characterized by prominent pigmented lesions on the skin and mucosal surfaces, cardiac and noncardiac myxomatous tumors, and multiple endocrine neoplasms. About 70% of cases have a family history, while the remaining 30% occur sporadically as a result of de novo mutation. Two genetic loci linked to CNC have been found: the CNC1 gene on chromosome 17q22-24, which encodes the regulatory subunit (R...