AKT1 E17K - zest. do oceny mutacji


1. AKTE17-RT50 - AKT1 E17K Mutation Analysis Kit for Real-Time PCR - 50 reactions

 

AKT1 Mutations and Cancer


AKT1 is a member of serine-threonine kinases that play a key role in various cellular processes including growth, proliferation, survival and angiogenesis. AKT1 is a downstream mediator of PI3 kinase. A somatic mutation that substitutes glutamic acid (E) with lysine (K) at amino acid position 17 results in a constitutively active form of the enzyme that is no longer dependent on activation of upstream components of the pathway. The AKT1 E17K mutation has been found in various cancers, including lung and breast.

 

Studies have shown that tumors harboring the AKT1 E17K mutation are less sensitive to AKT inhibitors (Carpten et al. 2007). Furthermore, tumors with AKT1 E17K mutation are generally found to be negative for EGFR, KRAS and ALK driver mutations.

The table below lists the frequency of AKT1 E17K mutation detected in various cancers.

 

Cancer TypeFrequencyReference
Breast Cancer 4% O'Brien et al. 2010
Lung Cancer 1% Bleeker et al. 2008; Do et al. 2008; Malanga et al. 2008
Colorectal Cancer 1-6% Carpten et al. 2007; COSMIC; Fumagalli et al. 2008; Kim et al. 2008

 

Testing Procedure and Analysis

EntroGen’s AKT1 E17K mutation analysis kit is a polymerase chain reaction (PCR)-based assay that uses allele-specific probes to identify the presence of the E17K mutation. The testing procedure involves three (3) simple steps:

  • Isolation of DNA from tumor biopsies, paraffin-embedded sections (FFPE), or fresh frozen tumors
  • Amplification of regions of the AKT1 gene using allele-specific probes.
  • Detection of amplification product on a Real-Time PCR instrument.

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

 

Equipment and Materials
EntroGen’s AKT1 E17K mutation analysis kit requires a real-time PCR instrument capable of detecting FAM and VIC 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


EntroGen's AKT E17K mutation analysis kit is available for research (RUO) and diagnostic (CE-IVD) purposes.