Familial adenomatous polyposis

Question 1

Genetics of Familial adenomatous
polyposis

Answer 1

AD chromosome 5

Question 2

Familial adenomatous
polyposis presentation and implications

Answer 2

Presents with hundreds to thousands of polyps on colonoscopy; 100% cancer risk

Question 3

Familial adenomatous
polyposis management

Answer 3

Start colonoscopy screening at 10-12 and do every 1-2 years; Then do prophylactic
proctocolectomy at age 18

Question 4

What is Gardner
syndrome?

Answer 4

Familial adenomatous
polyposis plus soft tissue tumor (lipoma) or bone tumor (skull)

Question 5

What is Turcot syndrome?

Answer 5

Familial adenomatous
polyposis plus CNS tumor