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Symbol KIT contributors: mct/npt/pgu - updated : 07-01-2017
HGNC name v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
HGNC id 6342
corresponding disease(s) PBT1 , FMST , FGIST
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral somatic mutation      
in mastocytosis, with an associated hematologic disorder, and in sporadic and familial stomach, intestines stromal tumors
tumoral     --over  
in gastrointestinal tumors
tumoral somatic mutation      
in acute myeloid leukemia
tumoral somatic mutation      
in synovial sarcoma
tumoral     --over  
of KIT and KITLG expression in primary Merkel cell carcinoma and in metastases suggests an early event in Merkel cell transformation
tumoral somatic mutation      
in mucosal melanomas irrespective of the location of the primary tumour
tumoral   amplification    
coamplification of PDGFRA or KDR with KIT may be clinically useful novel molecular markers in medulloblastomas and primitive neuroectodermal tumors
tumoral     --over  
of KIT, TP53, and MKI67 reflects tumor grade and predicts survival in neuroendocrine carcinomas, but fail as prognostic markers in the subset of small cell lung cancer patients
constitutional germinal mutation     gain of function
activating mutations found in the majority of patients with systemic mastocytosis
tumoral     --over  
in the human meningiomas
Susceptibility to infertility in males
Variant & Polymorphism other significant association of the rs3819392 polymorphism, which is located within the KIT gene, with idiopathic male infertility
Candidate gene
Therapy target
therapeutic attempts with tyrosine kinase inhibitors blocking KIT in mucosal melanomas
KIT signalling network has potential as a target for therapy and/or prevention in BRCA1-associated breast cancer