6533b854fe1ef96bd12af3ba
RESEARCH PRODUCT
Expanding the clinical spectrum of mosaic BRAF skin phenotypes
Lisa WeibelJean-baptiste RivièreChristophe PhilippeVirginie CarmignacPaul KuentzArthur SorlinSylvie FraitagLaurence FaivreC. Thauvin-robinetPierre VabresYannis DuffourdAnnabel MaruaniJeanne AmielOlivia BoccaraMartin Theilersubject
0301 basic medicineMAPK/ERK pathwayProto-Oncogene Proteins B-rafendocrine system diseases[SDV]Life Sciences [q-bio]DermatologyDNA sequencingSerine030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicinemedicineThreonineneoplasmsComputingMilieux_MISCELLANEOUSSkinKinasebusiness.industryMelanomamedicine.diseasePhenotypedigestive system diseases3. Good health030104 developmental biologyInfectious DiseasesPhenotypeMutationCancer researchbusinessSyringocystadenoma papilliferumdescription
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).
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2021-05-29 |