For patients assessed to be at a high risk for contracting colorectal cancer, this chart outlines appropriate screening and follow-up sequences.
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Hereditary Gastrointestinal Polyposis and Nonpolyposis Syndromes
| Polyposis syndrome |
|
Familial adenomatous polyposis
(FAP)
|
APC (AD) |
100s–1,000s of colonic adenomatous polyps
Duodenal/periampullary adenomas
Onset in teenage years
Prophylactic proctocolectomy is standard |
Attenuated FAP
|
PC (AD) |
<100 colonic adenomas, onset in adulthood |
MYH-associated polyposis
|
MUTYH (AR) |
Wide range in number of colon adenomas (few–1,000s) |
Polymerase proofreading-associated polyposis
|
POLD1, POLE (AD) |
5–100 colon adenomas; Increased risk of endometrial cancer |
| Peutz-Jeghers Syndrome |
STK11 (AD) |
Peutz-Jeghers type hamartomatous polyps
Perioral macular pigmentation
High risk of colon, gastric, pancreatic, breast, and gynecologic cancers |
Cowden Syndrome
|
PTEN (AD) |
Multiple hamartomatous polyps
High risk of thyroid cancer, breast cancer |
Bannayan-Riley-Ruvalcaba
|
PTEN (AD) |
Multiple hamartomatous polyps
Macrocephaly
Developmental delay |
Juvenile polyposis
|
BMPR1A, SMAD4 (AD) |
Multiple juvenile polyps
Increased risk of colon cancer
Hereditary hemorrhagic telangiectasia phenotype in some SMAD4 families |
Serrated polyposis
|
Unknown |
Multiple sessile serrated adenomas (at least five serrated polyps proximal to sigmoid colon,
two of which are >1cm in size) |
| Nonpolyposis syndrome |
|
Lynch
|
MLH1, MSH2, MSH6, PMS2, EPCAM (AD) |
High risk of colon and endometrial cancer
Absence of multiple polyps
Most common hereditary colon cancer syndrome |
AD autosomal dominant
AR autosomal recessive |
|
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