The mutation assay detects the best known AKT1 mutation, c.49G>A, p.E17K. This is a PH domain mutation that results in constitutive targeting of AKT1 to plasma membrane. BRAF: 4 Assays There are two major classes of BRAF mutations. One class leads to increased BRAF kinase activity, such as the p. V600E mutation. The other class leads to impaired kinase activity, such as the p.G469A mutation. CTNNB1: 2 Assays The most frequently detected CTNNB1/beta-catenin mutations result in abnormal signaling in the WNT signaling pathway. The mutated codons are mainly several serine/threonine residues targeted for phosphorylation by GSK-3beta. EGFR: 22 Assays The most frequently identified EGFR mutations include P-loop and activation loop point mutations, kinase domain deletions, and insertion mutations. ERBB2: 2 Assays The most frequently identified ERBB2 activating mutations cluster in the ERBB2 kinase domain region. HRAS: 1 Assay The most important HRAS mutation in lung cancer occurs at codon 61. KRAS: 13 Assays The mutation assays include the most frequently occurring mutations in KRAS codons 12, 13, and 61. Mutations at these positions result in reduced intrinsic GTPase activity and/or cause KRAS to become unresponsive to RasGAP. NRAS: 1 Assay The most important NRAS mutation in lung cancer occurs at codon 61. PIK3CA: 2 Assays The most frequently occurring PIK3CA mutations mainly belong to two classes: gain-of-function kinase domain activating mutations and helical domain mutations that mimic activation by growth factors. STK11: 2 Assays The most commonly detected STK11/LKB1 inactivation mutations are mainly due to truncation or point mutations. TP53: 33 Assays The most frequently detected somatic mutations in TP53 are largely composed of DNA-binding domain mutations which disrupt either DNA binding or protein structure. |