Risk Management & Treatment

Inherited mutations linked to colorectal cancer

The most common inherited gene mutations associated with hereditary colorectal cancer are (click on the link for more information about each gene mutation):

  • EPCAM (Lynch syndrome)
  • MLH1 (Lynch syndrome)
  • PTEN (PTEN Hamartoma Tumor Syndrome)
  • MSH2 (Lynch syndrome)
  • STK11 (Peutz-Jegher syndrome)
  • MSH6 (Lynch syndrome)
  • TP53 (Li-Fraumeni syndrome)
  • PMS2 (Lynch syndrome)

 

 

There are other inherited mutations that increase the risk of colorectal cancer. Most of these are rare. 

  • Familial adenomatous polyposis (FAP) is caused by an inherited mutation in the APC gene. People with an inherited FAP mutation may develop 100s of polyps and they may be diagnosed with colorectal cancer at a young age.
  • Inherited mutations in the MUTYH gene (also called MYH) are linked to a condition called MUTYH-associated polyposis (MAP). People must be born with two abnormal copies of the MUTYH gene (one from each of their parents) in order to develop this syndrome.
  • Inherited mutations in the MEN1 and NF1 genes are linked to neuroendocrine cell cancers. This includes colorectal gastrointestinal carcinoid tumors.
  • Other rare inherited mutations linked to colorectal cancer risk include:
    • MSH3
    • NTHL1
    • AXIN2
    • GREM1
    • BMPR1A 
    • SMAD4
    • POLE
    • POLD1