PCR plate and master mix
Target List
AKT1
The best known AKT1 mutations are c.49G>A, p.E17K, a PH domain mutation that results in constitutive targeting of AKT1 to plasma membrane, and an activating mutation, c.145G>A, p.E49K.
APC
The most commonly detected APC inactivation mutations are mainly composed of truncation mutations (due to nonsense mutations and frameshift mutations) and point mutations between codons 1250 and 1578.
BRAF
Common point mutations in BRAF either increase kinase activity, such as L597V, L597Q and V600E, or inhibit kinase activity, such as G464V, G466V and G469A.
CDKN2A
The most important CDKN2A loss-of-function mutations occur in the consensus ankyrin domain, which lead to the inability to form stable complexes with its targets.
CTNNB1
The most frequently detected CTNNB1 mutations result in abnormal WNT signaling activity. The mutated codons are mainly several serines and threonines targeted for phosphorylation by GSK3B.
EGFR
These assays detect the most frequently identified EGFR mutations, which include P-loop and activation loop point mutations, kinase domain deletions, and insertion mutations.
HRAS
The mutation assays detect the most important HRAS variants, all found in codons 12, 13, and 61.
IDH1
Most of these mutations abolish magnesium binding and alter the enzyme's activity to convert alpha-ketoglutarate into R(-)-2-hydroxyglutarate instead of isocitrate into alpha-ketoglutarate.
KRAS
The mutation assays detect the most frequently occurring KRAS mutations in codons 12, 13, and 61. Mutations at these positions reduce the protein’s intrinsic GTPase activity and/or cause it to become unresponsive to RasGAP.
NRAS
The mutation assays detect the most important NRAS variants, all found in codons 12, 13, and 61.
PIK3CA
The most frequently detected PIK3CA gain-of-function mutations occur either in the kinase domain (T1025-G1049, such as H1047L and H1047R) that increase its activity or in the helical domain (P539-E545) which mimic activation by growth factors.
PTEN
The most commonly detected PTEN loss-of-function mutations either truncate the protein (such as K6fs*4, R130*, R130fs*4, R233*, P248fs*5, and V317fs*3) or cause phosphatase inactivation (such as those at R130 and R173).
TP53
The most frequently detected somatic TP53 mutations occur in the DNA-binding domain which disrupt DNA binding and/or protein structure.