Table 1

Genes with predisposing mutations to inherited colorectal cancer syndromes

GeneHereditary syndromeAge of onset (years)Pathway/biological function*
APCFAP, AFAP34–43Wnt signalling pathway
MUTYHMAP48–56Base excision repair
MLH1, MSH2,MSH6, PMS2,EPCAMLynch syndrome44–56Mismatch repair
PTENCowden syndrome (includes BRR syndrome)<50 (BRR paediatric onset)Negative regulator of metabolic signalling
STK11PJS65Tumour suppressor
GREM1,15q13 locusHMPS48TGFβ/BMP signalling pathway
BMPR1AHMPS, juvenile polyposis syndrome48, 42TGFβ/BMP signalling pathway
MADH4/SMAD4Juvenile polyposis syndrome42TGFβ/BMP signalling pathway
POLE, POLD1Oligopolyposis or polymerase proofreading associated polyposis23–80DNA repair
  • *Many of these pathways interact at multiple levels and as such are not necessarily independent biological mechanisms.

  • AFAP, attenuated familial adenomatous polyposis; BMP, bone morphogenic protein; BRR, Bannayan–Ruvalcaba–Riley syndrome; FAP, familial adenomatous polyposis; HMPS, hereditary mixed polyposis syndrome; MAP, MUTYH associated polyposis; PJS, Peutz–Jeghers syndrome; TGFβ, transforming growth factor β.