Familial adenomatous polyposis pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sadaf Sharfaei M.D.[2], Mohamad Alkateb, MBBCh [3]

Overview

Genes involved in the pathogenesis of familial adenomatous polyposis include APC and MUTYH genes.

Genetics

• Familial adenomatous polyposis may have different inheritance patterns and genes involved.
• Familial adenomatous polyposis is due to mutations in different genes, including:
  • APC gene, which is located on chromosome 5 in band q21 or band q22 (5q21-q22)
  • MUTYH gene, which is located on chromosome 1 between bands p34.2 and p32.1 (5p34.3-p32.1)

• Familial adenomatous polyposis has autosomal dominant inheritance pattern if it results from mutations in the APC gene.
• Familial adenomatous polyposis has autosomal dominant recessive pattern if it results from mutations in the MUTYH gene.

Associated Conditions

Familial adenomatous polyposis is associated with other conditions including:

• Duodenum adenoma
• Stomach adenoma
• Desmoid tumor
  • The risk is approximately 6%-12%.
  • It mostly happens in small bowel mesentery.
• Periampullary cancer
  • The risk is approximately 10%.
• Thyroid cancer
• Pancreatic cancer