Table I.
Common hereditary syndromes associated with CRC, genes involved, and pattern of inheritance
| Condition | Gene | Inheritance pattern |
|---|---|---|
| Familial adenomatous polyposis (FAP) (classic and attenuated FAP) | APC | Autosomal dominant |
| Gardner’s syndrome (variant of FAP) | APC | Autosomal dominant |
| Turcot syndrome (variant of FAP) | APC, MLH1 or PMS2 | Autosomal dominant or autosomal recessive |
| Hereditary non-polyposis colorectal cancer (HNPCC) syndrome (Lynch syndrome) | MLH1, MSH2, MSH6, EpCAM and PMS2 | Autosomal dominant |
| MUTYH-associated polyposis (MAP) | MUTYH, APC | Autosomal recessive |
| Juvenile polyposis syndrome (JPS) | SMAD4 (MADH4), BMPR1A (ALK3) | Autosomal dominant |
| Peutz-Jeghers syndrome (PJS) | STK11 (LKB1) | Autosomal dominant |
| Polymerase proofreading-associated polyposis (PPAP) | POLE, POLD1 | Autosomal dominant |
| PTEN hamartoma tumors syndrome (PHTS) | PTEN | Autosomal dominant |
| Cowden syndrome | PTEN | Autosomal dominant |
| Familial colorectal cancer type X | BRCA2, KRAS, APC, NTS, BRAF, BMPR1A, and RPS20 | Autosomal dominant |