Article
Keratinocytic epidermal nevi are associated with mosaic RAS mutations.
Journal of medical genetics - 1 Apr 2012
Hafner Christian, Toll Agusti, Gantner Susanne, Mauerer Andreas, Lurkin Irene, Acquadro Francesco, Fernández-Casado Alejandro, Zwarthoff Ellen C, Dietmaier Wolfgang, Baselga Eulalia, Parera Elisabet, Vicente Asunción, Casanova Ariel, Cigudosa Juan, Mentzel Thomas, Pujol Ramon M, Landthaler Michael, Real Francisco X
Abstract excerpt
BACKGROUND: Activating RAS mutations in the germline cause rare developmental disorders such as Costello syndrome. Somatic RAS mutations are found in approximately 30% of human cancers. Keratinocytic epidermal nevi (KEN) represent benign congenital skin lesions arranged along Blaschko's lines. A subgroup of KEN is caused by hotspot oncogenic FGFR3 and PIK3CA mutations in mosaicism, but the majority lack these...
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