Familial adenomatous polyposis pathophysiology: Difference between revisions
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* Familial adenomatous polyposis is due to mutations in different genes, including: | * Familial adenomatous polyposis is due to mutations in different genes, including: | ||
** [[APC (gene)|''APC'' gene]], which is located on [[Chromosome 5 (human)|chromosome 5]] in band q21 or band q22 (5q21-q22) | ** [[APC (gene)|''APC'' gene]], which is located on [[Chromosome 5 (human)|chromosome 5]] in band q21 or band q22 (5q21-q22) | ||
*** Three hundred mutations of [[APC (gene)|''APC'' gene]] have been discovered for familial adenomatous polyposis. | |||
*** They have premature [[Stop codon|stop codons]] and lead to a truncated [[protein]]. | |||
** [[MUTYH|''MUTYH'' gene]], which is located on [[Chromosome 1 (human)|chromosome 1]] between bands p34.2 and p32.1 (1p34.3-p32.1) | ** [[MUTYH|''MUTYH'' gene]], which is located on [[Chromosome 1 (human)|chromosome 1]] between bands p34.2 and p32.1 (1p34.3-p32.1) | ||
Revision as of 17:09, 29 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)
- 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)
- APC gene, which is located on chromosome 5 in band q21 or band q22 (5q21-q22)
- 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 gastrointestinal and extra intestinal conditions including:[1]
Gastrointestinal conditions
- Duodenal adenoma
- Stomach cancer
- The risk is approximately 0.5%.
- Periampullary cancer
- The risk is approximately 10%.
- Pancreatic cancer
- The risk is approximately 2%.
- Hepatoblastoma
- The risk is approximately 1.5%.
- Bile duct cancer
Extra intestinal conditions
- 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