c-Kit Mutation Detection Kit

Available Products

Product Name/Description
No. of Reactions*
Product Code
c-Kit Mutation Detection Kit for Real-Time PCR
44
CKIT-RT44

*Includes all controls.

 

c-Kit Mutations in Melanoma

KIT mutations are found in approximately five to 30 percent of acral and mucosal melanomas and melanomas arising on chronically sun-damaged skin. Mutations occur primarily in exon 11 and secondarily in exons 13, 17, and 18. The overall response rate to imatinib in KIT-mutated melanoma is 16 to 23 percent, demonstrating the value of KIT-mutation testing in melanoma patients. [1][2][3]

The c-Kit Mutation Detection Kit detects the following mutations:

Mutation COSMIC ID
EX11_ p.V559D COSM1252
EX11_p.V559G COSM1253
EX11_p.V560D COSM1257
EX11_W557R COSM1216
EX17_p.D816H COSM1311
EX17_p.D816V COSM1314
EX11_p.L576P COSM1290
EX13_p.K642E COSM1304
EX9_p.Y503_F504insAY COSM12444
EX11_p.W557_E561del COSM18890
EX11_p.W557_K558del COSM12449
EX11_p.W557_V559>C COSM1233
EX11_p.W557_V559>F COSM1226
EX17_p.N822Y COSM19109
EX17_p.K818R COSM1315
EX17_p.N822H COSM1318
EX11_p.V559A COSM1255
EX11_p.W557G COSM1221
EX17_p.D820G COSM1316
EX17_p.D820Y COSM12710
EX17_p.N822K COSM1322

 

Testing Procedure and Analysis

EntroGen’s c-Kit Mutation Detection Kit is a polymerase chain reaction (PCR)-based assay that uses allele-specific primers to identify the presence of somatic mutations in c-KIT genes. The testing procedure involves three (3) simple steps:

  • Isolation of DNA from tumor biopsies, paraffin-embedded sections (FFPE), or fine needle aspirates (FNA)
  • Amplification of regions of the c-KIT genes using allele-specific primers
  • Analysis of the captured amplification data.

This test can be completed in approximately 2 hours from isolation of DNA to test result.

 

Equipment and Materials

EntroGen’s c-Kit Mutation Detection Kit requires a real-time PCR instrument capable of detecting FAM, VIC, ROX and CY5 fluorescent probes.

This test includes reagents required for the PCR amplification/detection, as well as validated reaction controls. Columns and reagents for DNA isolation are not included.

 

Intended Use

USA:

EntroGen’s Thyroid Cancer Mutation Panel is provided for research use only (RUO). Not for use in diagnostic procedures.

Europe:

EntroGen’s Thyroid Cancer Mutation Panel is available for research (RUO) and diagnostic (CE-IVD) purposes.

 

[1] Hodi FS, Corless CL, Giobbie-Hurder A, et al. Imatinib for melanomas harboring mutationally activated or amplified KIT arising on mucosal, acral, and chronically sun-damaged skin. J Clin Oncol. 2013;31(26):3182-3190.

[2] Carvajal RD, Antonescu CR, Wolchok JD, et al. KIT as a therapeutic target in metastatic melanoma. JAMA. 2011;305(22):2327-2334.

[3] Guo J, Si L, Kong Y, et al. Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification. J Clin Oncol. 2011;29(21):2904-2909.

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