Case Reports in Oncological Medicine / 2015 / Article / Tab 1 / Case Report
Clinicopathological and Targeted Exome Gene Features of a Patient with Metastatic Acinic Cell Carcinoma of the Parotid Gland Harboring an ARID2 Nonsense Mutation and CDKN2A/B Deletion Table 1 Somatic genomic alterations.
Gene Chr Coding change Base change Pathway CDKN2A 9 Loss Loss Cyclin-dependent kinase inhibitor, Rb tumor suppressor CDKN2B 9 Loss Loss Cyclin-dependent kinase inhibitor, Rb and p53 tumor suppressors ARID2 12 E267 799G>T Chromatin remodeling, tumor suppressor AXL 19 T112M 335C>T Receptor tyrosine kinase signaling ESR1 6 G90R 268G>C Transcription factor FBXW7 4 E192A 575A>C Phosphorylation-dependent ubiquitination GNA13 17 T365S 1093A>T G-protein signaling KEAP1 19 C624Y 1871G>C Sensor of oxidative stress KLHL6 3 S497T 1490G>C Receptor signaling LRP1B 2 N1724Y 5170A>T Receptor-mediated endocytosis signaling PLCG2 16 F528C 1583T>G Transmembrane signaling enzyme PRSS8 16 A209T 625G>A Proteolytic enzymes
