Author: Sorlin, A; Carmignac, V; Amiel, J; Boccara, O; Fraitag, S; Maruani, A; Theiler, M; Weibel, L; Duffourd, Y; Philippe, C; Thauvin-Robinet, C; Faivre, L; Rivière, J-B; Vabres, P; Kuentz, P
Title: Expanding the clinical spectrum of mosaic BRAF skin phenotypes. Cord-id: aev8pws7 Document date: 2021_5_29
ID: aev8pws7
Snippet: BRAF postzygotic activating mutations have been found in 50% of cases of syringocystadenoma papilliferum (SCAP)1 and in phacomatosis pigmentokeratotica (PPK)2,3 , also possibly caused by HRAS4 mutations. BRAF is a RAS-activating serine/threonine kinase of the MAP kinase pathway, resulting in cell growth and proliferation. BRAF mutations, particularly p.(Val600Glu), are frequently identified in melanoma and other human cancers5 . We report clinical presentations of three patients with postzygotic
Document: BRAF postzygotic activating mutations have been found in 50% of cases of syringocystadenoma papilliferum (SCAP)1 and in phacomatosis pigmentokeratotica (PPK)2,3 , also possibly caused by HRAS4 mutations. BRAF is a RAS-activating serine/threonine kinase of the MAP kinase pathway, resulting in cell growth and proliferation. BRAF mutations, particularly p.(Val600Glu), are frequently identified in melanoma and other human cancers5 . We report clinical presentations of three patients with postzygotic BRAF mutations in affected skin, identified by next generation sequencing (NGS).
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