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KIT K807N
GeneKIT
Variantmissense
Amino Acid ChangeK807N
Transcript ID (GRCh37/hg19)ENST00000288135
Codon807
Exon17
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Tier 2
KIT
Variants
KIT K807N
Primary Sites
Colon
Tumor Types
Adenocarcinoma
Interpretation

KIT (CD117) is a growth factor receptor of the tyrosine kinase subclass III family, normally expressed in a variety of human tissues. Gain-of-function mutations of the KIT gene have been identified that produce ligand-independent activation of KIT and cell proliferation. KIT receptor and its ligand have been demonstrated in human colon cancer cell lines. Some studies have shown high frequency of KIT overexpression in stage II colon cancer patients (59.3%) with significant correlation between KIT overexpression and reduced disease free survival. However, other studies failed to demonstrate KIT expression in a significant number of colorectal cancers suggesting that KIT kinase activation is not a prominent pathogenetic feature of colorectal cancers. Role of KIT continues to be studied in colon cancers. KIT K807N missense mutation is known to be oncogenic. Several tyrosine kinase inhibitors against KIT are available, mainly for gastrointestinal stromal tumors and melanoma. The role of these targeted therapies in colorectal carcinomas need to be further elucidated.

Last updated: 2019-01-22 18:33:05 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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