rs121913377, BRAF

N. diseases: 480
Disease: Malignant Peripheral Nerve Sheath Tumor ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant Peripheral Nerve Sheath Tumor
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
0.030 GeneticVariation BEFREE We identified TERT C228T or C250T promoter mutations in 10 % (9/94) and BRAF V600E mutations in 3 % (3/86) of MPNSTs. 25035100 2014
Malignant Peripheral Nerve Sheath Tumor
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
0.030 GeneticVariation BEFREE Oncogenic BRAF V600E mutations were found in four of 40 schwannomas (including one acoustic neuroma) and one of 13 MPNST, not associated with NF. 23190154 2013
Malignant Peripheral Nerve Sheath Tumor
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
0.030 GeneticVariation BEFREE This case represents the first report of successful systemic treatment of MPNST with an inhibitor of the BRAF V600E mutation. 24335681 2013