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BRAF: 2 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: 29 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.
ERBB2: 1 Assay
The most frequently identified ERBB2 activating mutations cluster in the ERBB2 kinase domain region.
FBXW7: 1 Assay
Typically detected mutations lay in either the third or fourth repeat of the protein's WD40 domain, typically involved in protein-protein interactions.
HNF1A: 2 Assays
These mutations are expected to interfere with DNA binding.
KRAS: 12 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: 2 Assays
The most important NRAS mutations in liver cancer occur 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.
TP53: 34 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.
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