John Libbey Eurotext

European Journal of Dermatology

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Nevus cells of cardiofaciocutaneous syndrome bear BRAF germ-line and somatic double mutations Volume 28, issue 5, September-October 2018

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Authors
Department of Dermatology, Sapporo Medical University School of Medicine, South 1, West 16, Chuo-ku, Sapporo 060-8543, Japan

Cardiofaciocutaneous syndrome (CFCS) is one of the RASopathies caused by abnormalities of the RAS/mitogen-activated protein kinase (MAPK) pathway [1]. The responsible genes are BRAF, MAP2K1, MAP2K2 and KRAS. Although 63% of nevi and half of melanomas bear the BRAF V600E mutation [2, 3], this has not been identified in CFCS. The development of multiple melanocytic nevi is characteristic of CFCS. To explore the aetiology of multiple nevi in CFCS, somatic genetic alterations in nevus cells of CFCS were [...]