c-KIT mutations screen

The c-kit protein is a transmembrane tyrosine kinase receptor. Ligand binding of c-kit leads to homodimerisation and the autophosphorylation of tyrosine residues 568, 570,703, 721 and 936. Autophosphorylated tyrosine associates with proteins such as STAT leading to cell proliferation. Gain of function mutations in c-kit are found in several human tumours.
Clinical details: 
Imatinib mesylate, a selective inhibitor of tyrosine kinases (BCR-ABL, c-KIT, PDGFRA), inhibits mutant c-KIT
Reference range: 

PB/BM and Tissue.

Synonyms or keywords: 
tyrosine kinases, tyrosine kinase inhititor, c Kit , PDGFRA, gastrointestinal stromal tumours, solid cancers, imatinib, Gleevec , imatinib mesylate, melanomas.
Sample type and Volume required: 
Paraffin embedded curls/fresh tissue.
Turnaround time: 
2 weeks
Storage and transport: 
Room temperature. Paraffin embedded tissue blocks should be sent to Histopathology for curls to be cut.
Molecular Oncology Unit at Guy's
Genetics Department
Southwark Wing - 4th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT

T: 0207 188 7188 extn. 51060
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 07/08/2015