| Syndrome |
Inheritance |
Gene |
Polyp and Cancer Location (s) |
Extraintestinal Manifestations |
| FAP and variants |
Autosomal Dominant |
APC on 5q |
Colorectum >> stomach and small bowel |
Fibromatosis (desmoid), congenital hypertrophy of the retinal pigmented epithelium, skull and mandible osteomas, epidermal cysts, dental alterations |
| Peutz-Jeghers |
Autosomal Dominant |
STK11 on 19p |
Polyps: Small bowel > stomach, colon
Malignant Potential: 10-20%, entire GI tract
High prevalence of pancreatic, gastric, endocervical, and bilateral breast cancers |
Mucocutaneous pigmentation, gonadal tumors |
| Juvenile Polyposis |
Autosomal Dominant |
SMAD4 on 18q or BMPRIA on 10q |
Polyps: Colorectum > stomach > small bowel; may be diffuse
Malignant Potential: Colon cancer 20-70%, occurs within polyps with dysplasia/cancer |
Sporadic forms only: hydrocephalus, hypertelorism, GU and cardiac defects, malrotation of the gut |
| PTEN Hamartoma |
Autosomal Dominant |
PTEN on 10q |
Cowden Syndrome Polyps: throughout the GI tract
Cowden Syndrome Malignant Potential: none for GI lesions, increased breast, thyroid, and endometrial cancers
Bannayan-Riley-Ruvalcaba-Syndrome Polyps: Colon and tongue
Bannayan-Riley-Ruvalcaba Syndrome Malignant Potential: as above for Cowden Syndrome |
Cowden Syndrome: Facial trichilemmomas, acral keratoses, oral fibromas, lipomas, hemangiomas, macrocephaly, Lhermitte-Duclos disease
Bannayan-Riley-Ruvalcaba Syndrome: macrocephaly, lipomas, pigmented penile macules |
| MUTYH (MYH)-Associated Polyposis |
Autosomal Recessive |
MUTYH (MYH) on 1p |
Colorectum > stomach and small bowel |
|
| Serrated Polyposis |
Currently undefined, likely hereditary |
Currently undefined, likely hereditary |
Colorectum with increased risk of colorectal cancer |
None defined |
| Hereditary Mixed Polyposis |
Appears to be autosomal dominant |
GREM1 on 15q |
Confined to colon with increased risk of colorectal cancer |
None defined |
| Polymerase Proofreading Associated Polyposis |
Autosomal Dominant |
POLD1 and POLE |
Colorectum with increased risk of colorectal cancer |
None currently defined |