Genes linked to hereditary colorectal cancer

Multi-gene panel tests look for inherited mutations in many genes at the same time. These tests may include new or less common genes. Some panels may include additional genes other than those listed below. A genetics expert can make sure that the most appropriate test is ordered based on your personal situation and family medical history. They will also make sure that your test results are interpreted correctly.

Common genes linked to hereditary colorectal cancer 

The most common genes associated with hereditary colorectal cancer are:

EPCAM	CHEK2
MLH1	PTEN
MSH2	STK11
MSH6	MUTYH
PMS2	TP53

Less common genes linked to hereditary colorectal cancer 

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

• 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.

• Very rare inherited mutations linked to colorectal cancer risk include:

  • MSH3
  • NTHL1
  • AXIN2
  • GREM1
  • BMPR1A 
  • SMAD4
  • POLE
  • POLD1