Familial adenomatous polyposis pathophysiology

	Familial adenomatous polyposis Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Familial adenomatous polyposis from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography and Ultrasound
CT Scan
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Familial adenomatous polyposis pathophysiology On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Familial adenomatous polyposis pathophysiology All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Familial adenomatous polyposis pathophysiology
CDC on Familial adenomatous polyposis pathophysiology
Familial adenomatous polyposis pathophysiology in the news
Blogs on Familial adenomatous polyposis pathophysiology
Directions to Hospitals Treating Familial adenomatous polyposis
Risk calculators and risk factors for Familial adenomatous polyposis pathophysiology

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.

Familial adenomatous polyposis may have different inheritance patterns and genes involved.
Familial adenomatous polyposis is due to mutations in different genes, including:^[1]
- APC gene, which is located on chromosome 5 in band q21 or band q22 (5q21-q22)
  - Three hundred mutations of APC gene have been discovered for familial adenomatous polyposis.
  - They have premature stop codons and lead to a truncated protein.
- MUTYH gene, which is located on chromosome 1 between bands p34.2 and p32.1 (1p34.3-p32.1)

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

Familial adenomatous polyposis is associated with other gastrointestinal and extra intestinal conditions including:^[2]^[3]

Adrenal masses
Desmoid tumor
- The risk is approximately 10% to 20%.
- It mostly happens in small bowel mesentery.
Papillary thyroid cancer
- The risk is approximately 2% to 25%.
Medulloblastoma
Osteomas
- It is a benign bony growth mainly on jaw
Congenital hypertrophy of the retinal pigment epithelium
Epidermoid cysts and fibromas

↑ Iaquinto, Gaetano; Fornasarig, Mara; Quaia, Michele; Giardullo, Nicola; D'Onofrio, Vittorio; Iaquinto, Salvatore; Di Bella, Simone; Cannizzaro, Renato (2008). "Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis". Gastrointestinal Endoscopy. 67 (1): 61–67. doi:10.1016/j.gie.2007.07.048. ISSN 0016-5107.
↑ Beech D, Pontius A, Muni N, Long WP (2001). "Familial adenomatous polyposis: a case report and review of the literature". J Natl Med Assoc. 93 (6): 208–13. PMC 2594024. PMID 11446392.
↑ Kennedy, Raelene D.; Potter, D. Dean; Moir, Christopher R.; El-Youssef, Mounif (2014). "The natural history of familial adenomatous polyposis syndrome: A 24year review of a single center experience in screening, diagnosis, and outcomes". Journal of Pediatric Surgery. 49 (1): 82–86. doi:10.1016/j.jpedsurg.2013.09.033. ISSN 0022-3468.