Table 1 Keywords used for literature mining

hMLH1/DNA repair

Genetic or epigenetic inactivation

[3, 98]

MSH2/DNA repair

Genetic or epigenetic inactivation

[2]

MLH3/DNA repair

Dominant negative mutations inhibit hMLH1 function

[30, 31]

MYH/Development

Attenuate CRC in association with FAP

[4, 99]

CDK8/cell cycle regulation

CDK8 Inhibition activates Wnt/b-catenin pathway

[100, 101]

DCC

Genetic loss

[102]

IGF-IR/IGF-IR, EGFR and HER2 receptor tyrosine kinase signalling

Co-expression in advanced stages

[36]

TGFBR1/TGF-beta signalling pathway

Inhibits/prevents CRC

[103, 104]

Axin2/Cytoskeleton remodelling

Mutations activates Wnt signalling

[34]

APC/Cell cycle

Genetic loss

[105, 106]

b-Raf/Ras signalling pathway

Mutations are prognostic

[107, 108]

MSH6/DNA damage

Mutations in HNPCC

[109, 110]

PTEN/cell signalling

Genetic loss or functional inactivation linked to poor survival

[32, 33]

CXCL12 and CXCR4/Immune response – signalling pathway

Inverse relationship between CXCL12 and CXCR4, with over-expression of CXCL12 and down-regulation of CXCR4 are linked to tumor progression

[111]

RAD18/DNA damage

Polymorphism at Arg302Gln

[112, 113]

c-Met/HGF signalling pathway

Over-expression linked to tumor progression

[114]

HG/HGF signalling pathway

Over-expression HGF in association with c-Met linked to metastasis

[115]

MACC1/signalling pathway

Over-expression associated with metastasis

[116]

CASPASE-3/apoptosis-FAS signalling/TNFR1/caspase-cascade

[117][118]

CASP10/caspase-cascade

Somatic mutations linked to pathogenesis

[119]

NAT1/metabolic pathways

Genetic mutations

[120, 121]

GSTM1/detoxification pathway

GSTM1 expression associated with tumor progression

[122]

GSTT1/cell cycle

GSTT1 expression associated with high risk of CRC

[122]

CYP2C9/lipid metabolism

High risk associated with CYP2C9*1 gene

[123],[124]

Bcl-2/Apoptosis-FAS signalling/TNFR1 signalling

Loss of expression associated with stage II relapse

[125]

PRMT1/DNA repair

Expression of gene variant associated with CRC

[126, 127]

SMAD3/Cytoskeleton remodelling

Expression is associated with the survival rate of CRC

[128]

IGFBP1/IGF Beta receptor signalling pathway

Expression is inversely proportional to survival rate in CRC

[129]

PDGFBB/PDGF signalling pathway

Higher expression associated with low survival rate

[130]

PDGFRB/PDGF signalling pathway

Higher expression associated with CRC tumor stroma

[131]

PLK1/cell cycle

Higher expression and a prognostic factor in CRC

[132]

IFITM1/Beta-catenin signalling pathway

Expression identified in CRC, important for pathogenesis, metastasis and potential biomarker

[133]

MBL2/lectin pathway

Very population specific. Two school of thought (yes/no)

NCI bulletin-April-17,2007

PMS2/DNA repair

Loss in expression associated with CRC

[134]

CXCL2/Apoptotic pathways

Elevated expression associated with CRC

[135]

IGF1R/IGFR signalling pathway

Regulates the expression of VEGF expression. Can be used as prognostic factor.

[136]

CYP27B1/Vitamin D pathway

Enzyme identified to be associated with CRC- but more studies need to be performed

[137]

CYP24/Vitamin D pathway

Useful gene/SNP/precursor for chemotherapy

[138]

MUCINS/mucin expression pathway

Useful therapeutic target

[139, 140]