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Genetics of Colorectal Cancer (PDQ®)

  • Updated: 02/14/2014

Table 2. Genes Associated with a High Susceptibility of Colorectal Cancer

Gene  Syndrome  Hereditary Pattern  Predominant Cancer  
FAP = familial adenomatous polyposis; JPS = juvenile polyposis syndrome; LS = Lynch syndrome; OMIM = Online Mendelian Inheritance in Man database; PJS = Peutz-Jeghers syndrome.
Tumor suppressor genes
APC (OMIM)FAP DominantColon, intestine, etc.
TP53 (p53) (OMIM)Li-FraumeniDominantMultiple (including colon)
STK11 (LKB1) (OMIM)PJS DominantMultiple (including intestine)
PTEN (OMIM)Cowden DominantMultiple (including intestine)
BMPR1A (OMIM)JPS DominantGastrointestinal
SMAD4 (MADH/DPC4) (OMIM)JPS DominantGastrointestinal
Repair/stability genes
MLH1 (OMIM), MSH2 (OMIM), MSH6 (OMIM), PMS2 (OMIM)LS DominantMultiple (including colon, uterus, and others)
EPCAM (TACSTD1) (OMIM)LS DominantMultiple (including colon, uterus, and others)
MYH (MUTYH) (OMIM)MYH-associated polyposis RecessiveColon
POLD1 (OMIM), POLE (OMIM)Oligopolyposis DominantColon, endometrial