Table 3

Biological mechanisms marked by common risk loci

Implicated genes*Biological mechanism
Well established CRC pathways
CTNNB1, VTl1A, TCF7L2, CDH1, SMAD7, SHROOM2Cell adhesion, differentiation and migration (Wnt signalling pathway)
BMP4, BMP2, GREM1, TGFB1Cell adhesion, differentiation and migration (TGFβ/BMP signalling pathway)
DUSP10, MYO1B, MYC, CCND2, SH2BCell adhesion, differentiation and migration (MAPK signalling pathway)
PITX, POLD3, CDKN1A, FEN1, MLH1, CHEK2DNA repair, fidelity of DNA replication
Novel CRC pathways
LAMC1, LAMA5Cell adhesion (extracellular matrix structural constituent)
EIF3HTranslational initiation
CD9Cell adhesion, differentiation, migration and signalling (cell surface glycoprotein)
PLCB1Intracellular transduction of extracellular signals
RHPN2Organisation of the actin cytoskeleton
PREX1Intracellular signalling (guanine nucleotide exchange factor)
LRIG1Intestinal tumour suppressor
TERCTelomerase
PITXHormone regulation
DNMT3BDNA methyltransferase involved with epigenetic modification
SLC22A2Steroid binding
DIP2BDNA methylation
NOS1, ITIHTumour suppressor
  • *Given that for most loci the functional variant(s) marked by the association have yet to be tested through laboratory expression assays the listed genes are based on predicted function and most likely candidate gene.

  • BMP, bone morphogenic protein; CRC, colorectal cancer; MAPK, mitogen activated protein kinases; TGFβ, transforming growth factor β.