KIT

Primary Author(s)*

Brian Davis PhD

Synonyms

"KIT Proto-Oncogene Receptor Tyrosine Kinase"; "V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog"; PBT; "Stem Cell Factor Receptor"; SCFR; "Cellular KIT"; C-Kit; CD117; MASTC

Genomic Location

Cytoband: 4q12

Genomic Coordinates:

chr4:55,524,085-55,606,881(GRCh37/hg19)

chr4:55,524,085-55,606,881(GRCh37/hg19)

Cancer Category/Type

KIT mutations are prevalent in many cancers, including gastrointestinal stromal tumors (90%), genetical tract cancers (22%), haematopoietic and lymphoid cancers (13.8%), Melanomas (7%)

Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms

GIST (gastrointestinal stromal tumors)

mast cell disease

Melanoma Skin Cancer

Gene Overview

This gene encodes the human homolog of the proto-oncogene c-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. (adapted from UniProt Description).

Common Alteration Types

The most common mutations found in KIT occur in the Tyrosine Kinase domain, with the vast majority being at the D816 residue (see COSMIC).

Copy Number Loss	Copy Number Gain	LOH	Loss-of-Function Mutation	Gain-of-Function Mutation	Translocation/Fusion
EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X

Internal Pages

Put your text here

EXAMPLE Germline Cancer Predisposition Genes

External Links

Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knnowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) My Cancer Genome, 9) UniProt, 10) Pfam, 11) GeneCards, 12) GeneReviews, and 13) Any gene-specific databases.

EXAMPLES

KIT by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information

KIT by COSMIC - sequence information, expression, catalogue of mutations

KIT by CIViC - general knowledge and evidence-based variant specific information

KIT by St. Jude ProteinPaint mutational landscape and matched expression data.

KIT by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs

KIT by Cancer Index - gene, pathway, publication information matched to cancer type

KIT by OncoKB - mutational landscape, mutation effect, variant classification

KIT by My Cancer Genome - brief gene overview

KIT by UniProt - protein and molecular structure and function

KIT by Pfam - gene and protein structure and function information

KIT by GeneCards - general gene information and summaries

KIT by NCBI Gene - general gene information and summaries

KIT by OMIM - compendium of human genes and genetic phenotypes

KIT by LOVD(3) - Leiden Open Variation Database

KIT by TICdb - database of Translocation breakpoints In Cancer

References

1. Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.

2. Schafer, E.S. . et al. (2015). Molecular Genetics of Acute Lymphoblastic Leukemia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.