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. 2016 Feb 9;7(14):17711–17725. doi: 10.18632/oncotarget.7293

Table 1. Recurrently and exclusively mutated genes.

Good prognosis
Gene # Tumors Description Reported in literature
DNHD1 4 Involved in microtubule motor activity ---
PCDH17 4 Potential calcium-dependent cell-adhesion protein Hu X et al. Protocadherin 17 acts as a tumour suppressor inducing tumour cell apoptosis and autophagy, and is frequently methylated in gastric and colorectal cancers. J Pathol. 2013 Jan;229(1):62-73.
USH2A 4 Involved in hearing and vision Kim N et al. Somatic mutaome profile in human cancer tissues. Genomics Inform. 2013 Dec;11(4):239-44. doi: 10.5808/GI.2013.11.4.239. Epub 2013 Dec 31.
ADCY2 3 Membrane-bound, calmodulin-insensitive adenylyl cyclase Fang LT et al. Comprehensive genomic analyses of a metastatic colon cancer to the lung by whole exome sequencing and gene expression analysis. Int J Oncol. 2014 Jan;44(1):211-21.
ATP1B1 3 ATPase activator activity Selvakumar P et al. Epigenetic silencing of Na, K-ATPase β 1 subunit gene ATP1B1 by methylation in clear cell renal cell carcinoma. Epigenetics. 2014 Apr;9(4):579-86.
CAD 3 This protein is a “fusion” protein encoding four enzymatic activities of the pyrimidine pathway ---
ELFN1 3 Postsynaptic protein that regulates circuit dynamics in the central nervous system ---
ERP27 3 Endoplasmic reticulum resident protein 27 ---
ESR1 3 Nuclear hormone receptor Caiazza F, et al. Estrogen receptors and their implications in colorectal carcinogenesis. Front Oncol. 2015 Feb 2;5:19.
F7 3 Coagulation factor Naderi A. Coagulation factor VII is regulated by androgen receptor in breast cancer. Exp Cell Res. 2015 Feb 1;331(1):239-50.
ITIH1 3 May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein Hamm A et al. Frequent expression loss of Inter-alpha-trypsin inhibitor heavy chain (ITIH) genes in multiple human solid tumors: a systematic expression analysis. BMC Cancer. 2008 Jan 28;8:25.
LHX5 3 Plays an essential role in the regulation of neuronal differentiation and migration ---
NFATC1 3 Plays a role in the inducible expression of cytokine genes in T-cells Tripathi MK et al. Nuclear factor of activated T-cell activity is associated with metastatic capacity in colon cancer. Cancer Res. 2014 Dec 1;74(23):6947-57.
NOTCH3 3 Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination Wang XW et al. MicroRNA-206 attenuates tumor proliferation and migration involving the downregulation of NOTCH3 in colorectal cancer. Oncol Rep. 2015 Mar;33(3):1402-10.
PTPRS 3 Receptor-type tyrosine-protein phosphatase implicated in cell adhesion Wang ZC et al. PTPRS Acts as A Metastatic Suppressor in Hepatocellular Carcinoma by Control of EGFR Induced Epithelial-Mesenchymal Transition. Hepatology. 2015 May 22.
Poor prognosis
Gene # Tumors Description Reported in literature
CSMD1 5 Membrane receptor Farrell C et al. Somatic mutations to CSMD1 in colorectal adenocarcinomas. Cancer Biol Ther. 2008 Apr;7(4):609-13.
BRAF 3 Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. Clancy C et al. BRAF mutation is associated with distinct clinicopathological characteristics in colorectal cancer: a systematic review and meta-analysis. Colorectal Dis. 2013 Dec;15(12):e711-8.
CACNA1G 3 Involved in a variety of calcium-dependent processes, including gene expression, cell motility, cell division and cell death Berg M et al. Molecular subtypes in stage II-III colon cancer defined by genomic instability:early recurrence-risk associated with a high copy-number variation and loss of RUNX3 and CDKN2A. PLoS One. 2015 Apr 16;10(4):e0122391.
CCDC168 3 Coiled-coil domain-containing protein 168 ---
DPYD 3 degradation of the chemotherapeutic drug 5-fluorouracil Innocenti F. DPYD variants to predict 5-FU toxicity: the ultimate proof. J Natl Cancer Inst. 2014 Nov 7;106(12).
DSCAML1 3 Cell adhesion molecule that plays a role in neuronal self-avoidance. ---
NRG1 3 Transcriptional repressor that binds NRG1 response elements (NRE) of target promoters Lim B, et al. Genome-wide mutation profiles of colorectal tumors and associated liver metastases at the exome and transcriptome levels. Oncotarget. 2015 Jun 1.
PAPPA2 3 Metalloproteinase which specifically cleaves IGFBP-5 ---
POLE 3 Participates in DNA repair and in chromosomal DNA replication Haraldsdottir S, et al. Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology. 2014 Dec;147(6):1308-1316.
ROBO2 3 Receptor implicated in cellular migration Je EM, et al. Frameshift mutations of axon guidance genes ROBO1 and ROBO2 in gastric and colorectal cancers with microsatellite instability. Pathology. 2013 Dec;45(7):645-50.
SLITRK5 3 Suppresses neurite outgrowth ---
SPTA1 3 The major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane Iwakawa R, et al. Expression and clinical significance of genes frequently mutated in small cell lung cancers defined by whole exome/RNA sequencing. Carcinogenesis. 2015 Jun;36(6):616-21.