Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF MUTATION
BRAF MUTATION - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- The molecular biology of these GIST, originally defined as KIT/PDGFRA wild-type (WT), is complex due to the existence of different subgroups with distinct molecular hallmarks, including defects in the succinate dehydrogenase (SDH) complex and mutations of neurofibromatosis type 1 (NF1), BRAF, or KRAS genes (RAS-pathway or RAS-P).In this extremely heterogeneous landscape, the clinical profile and molecular abnormalities of the small subgroup of WT GIST suitably referred to as quadruple wild-type GIST (quadrupleWT or KITWT/PDGFRAWT/SDHWT/RAS-PWT) remains undefined.
- Pubmed
- 25239601
- Section of the abstract supporting the evidence
- BACKGROUND
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,GAD
- DisGENET score for the Gene Disease association
- 0.00426712508316415
Drugs