Familial adenomatous polyposis pathophysiology: Difference between revisions
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** [[MUTYH|''MUTYH'' gene]], which is located on [[Chromosome 1 (human)|chromosome 1]] between bands p34.2 and p32.1 (5p34.3-p32.1) | ** [[MUTYH|''MUTYH'' gene]], which is located on [[Chromosome 1 (human)|chromosome 1]] between bands p34.2 and p32.1 (5p34.3-p32.1) | ||
* Familial adenomatous polyposis has [[autosomal dominant | * Familial adenomatous polyposis has [[autosomal dominant]] inheritance pattern if it results from mutations in the [[APC (gene)|''APC'' gene]]. | ||
* Familial adenomatous polyposis has autosomal | * Familial adenomatous polyposis has [[autosomal recessive]] inheritance pattern if it results from mutations in the [[MUTYH|''MUTYH'' gene]]. | ||
==Associated Conditions== | ==Associated Conditions== | ||
Familial adenomatous polyposis is associated with other conditions including:<ref name="pmid11446392">{{cite journal |vauthors=Beech D, Pontius A, Muni N, Long WP |title=Familial adenomatous polyposis: a case report and review of the literature |journal=J Natl Med Assoc |volume=93 |issue=6 |pages=208–13 |year=2001 |pmid=11446392 |pmc=2594024 |doi= |url=}}</ref> | Familial adenomatous polyposis is associated with other conditions including:<ref name="pmid11446392">{{cite journal |vauthors=Beech D, Pontius A, Muni N, Long WP |title=Familial adenomatous polyposis: a case report and review of the literature |journal=J Natl Med Assoc |volume=93 |issue=6 |pages=208–13 |year=2001 |pmid=11446392 |pmc=2594024 |doi= |url=}}</ref> |
Revision as of 16:17, 25 January 2018
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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.
Pathophysiology
Pathogenesis
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 recessive inheritance pattern if it results from mutations in the MUTYH gene.
Associated Conditions
Familial adenomatous polyposis is associated with other conditions including:[1]
- 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%.
- Papillary thyroid cancer
- Pancreatic cancer