Skip to main content
. 2022 Apr 29;14(9):2223. doi: 10.3390/cancers14092223

Table 1.

Copy number alterations with associated genes and functions in the pathogenesis of colorectal cancer.

Pathogenesis Stage Copy Number Alterations Associated Gene Associated Protein [21] Signal Pathway
(If Known)
Biologic Activity and Function
(If Known)
Adenoma to Carcinoma Gain of 8q [22] c-MYC c-MYC Transcription factor that facilitates cell proliferation and survival
Gain of 20q [23,24,25,26] ADRM1 Adrm1 Component of 26S proteasome that encodes a cell adhesion molecule
AURKA Aurora Kinase A Wnt and Ras-MAPK Serine threonine kinase that induces centrosome amplification and aneuploidy
BCL2L1 Bcl-2-like protein 1 Caspase activation inhibitor that regulates apoptosis
C20orf20 MRG/MORF4L-binding protein Histone acetylation that binds to MRG15/MRGX proteins and is associated with cancer cell growth
C20orf24 Respirasome Complex Assembly Factor 1 Mitochondrial respirasome assembly
SRC Src STAT3, PI3K, RAS Non-receptor protein kinase that promotes tumor progression and metastasis
TCFL5 Transcription factor-like 5 protein Transcription factor
TH1L Negative elongation factor C/D MEK/ERK Helps regulate A-raf kinase, which is involved in MEK/ERK pathway activation
Loss of 8p [27,28,29] DLC1 Rho GTPase-activating protein 7 MAPK GTPase-activating protein involved in fatty acid and ceramide metabolism
Loss of 17p [22] p53 p53 p53 Tumor suppressor, transcription factor
Loss of 18q21 [6,30] DCC DCC Nectrin-1 receptor that
facilitates apoptosis
SMAD4 SMAD4 TGF-β Transcription factor and tumor suppressor that regulates TGF-β pathway
Disease Progression Loss of 3p14.2 [31] FHIT Bis(5’-adenosyl)-triphosphatase PI3K/AKT Dinucleoside triphosphate hydrolase
that regulates apoptosis
Loss of 4p [32]
Deletion of 5p15.1 [33,34] FAM134B Reticulophagy
regulator 1
AKT Autophagy receptor and
tumor suppressor
Distant Metastasis Gain of 1q [32]
Amplification of 3q26 [35] PIK3CA PIK3CA PI3K/AKT Kinase involved in PI3K/AKT signaling pathway
Amplification of 8p11.23 [36] FGFR1 FGFR1 MAPK, PI3K/AKT Receptor tyrosine kinase for fibroblast growth factors
Gain of 8q [37,38] PRL-3 PRL-3 NF-kB Protein tyrosine phosphatase that facilitates glycolysis, glucose metabolism, and lactate production
Amplification of 11q [39]
Amplification of 12p13.33 [32] WNK1 WNK1 WNK Serine/threonine protein kinase that facilitates cell cycle progression
Amplification of 13q12 [35,40] CDK8 CDK8 mTOR Protein phosphorylator that regulates β-catenin activity
Amplification of 17q12 [35] ERBB2 ERBB2 PI3K/AKT Receptor tyrosine kinase that
leads to cellular growth
Gain of 19 [32]
Loss of 1p35 [41] S100PBP S100PBP Interacts with S100 calcium-binding protein P
CSMD2 CSMD2 Tumor suppressor involved in
complement cascade
Loss of 5q31 [41] TGFBI TGFBI PI3K/AKT Precursor of TGFBI and inhibits tumor cell invasion
Loss of 8p21 [42,43] TNFRSF10C TNFRSF10C Receptor for the cytotoxic ligand TRAIL
and inhibits apoptosis
Loss of 14p [32]
Deletion of 17p [44,45,46] p53 p53 p53 Tumor suppressor
Deletion of 22q11.2 [46]