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: 1 Assay
In colon cancer, the BRAF mutation that leads to increased kinase activity, p. V600E mutation, is the most important to test.
CTNNB1: 5 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.
FBXW7: 1 Assay
The mutations queried by these assays lay in either the third or fourth repeat of the protein's WD40 domain, typically involved in protein-protein interactions.
KRAS: 17 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.
PIK3CA: 7 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.
SRC: 1 Assay
SRC is a proto-oncogene and a tyrosine-protein kinase that plays a role in the regulation of embryonic development and cell growth. Mutations in this gene could be involved in the malignant progression of colon cancer.
TP53: 20 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.
View a table of the mutations, associated COSMIC IDs and assay numbers, by clicking “Mutation Table” above on the right.