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Decision Support Tool for Patients at High Risk for Colorectal Cancer


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Decision Support Tool for Patients at High Risk for Colorectal Cancer

Related to: Clinical Guidelines, Communication, Diagnosis, Primary Care, Other Specialties

For patients assessed to be at a high risk for contracting colorectal cancer, this chart outlines appropriate screening and follow-up sequences.

Click to enlarge.



Hereditary Gastrointestinal Polyposis and Nonpolyposis Syndromes

Condition Genes (Inheritance)
 Key Clinical Features
Polyposis syndrome  
Familial adenomatous polyposis
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
PTEN (AD) Multiple hamartomatous polyps
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  

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

Take the Test

CME credit opportunity: Colorectal Cancer Decision Support Test

November 13, 2019
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