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KIT V560D
GeneKIT
Variantmissense
Amino Acid ChangeV560D
DNA Change (Coding Nucleotide)1679T>A
Transcript ID (GRCh37/hg19)ENST00000288135
Codon560
Exon11
Genomic Coordinates (GRCh37/hg19)4:55593613-55593613
COSMIC ID1257
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 1
KIT
Variants
KIT V560D
KIT exon(s) 11 any
Primary Sites
Stomach
Small Intestine
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

KIT mutations occur in approximately 80% of patients with gastrointestinal stromal tumors. The major region of KIT mutation in GIST is within exon 11, occurring in about 65% of patients. KIT exon 11 mutations are activating mutations and are typically sensitive to treatment with Imatinib.

Last updated: 2016-10-11 21:39:37 UTC
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Tier 1
KIT
Variants
KIT V560D
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Regorafenib Sunitinib Imatinib

Last updated: 2018-04-18 14:21:07 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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