Familial adenomatous polyposis pathophysiology: Difference between revisions
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** [[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. | *** 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]]. | *** They have premature [[Stop codon|stop codons]] and lead to a truncated [[protein]]. | ||
*** Mutation is seen in 6% of Ashkenazi Jews. | |||
*** Mutation is seen in about 28% of those of Ashkenazi descent with a family history of colorectal cancer. | |||
** [[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) | ||
* Familial adenomatous polyposis has [[autosomal dominant]] inheritance pattern if it results from mutations in the [[APC (gene)|''APC'' gene]]. | * Familial adenomatous polyposis has [[autosomal dominant]] inheritance pattern if it results from mutations in the [[APC (gene)|''APC'' gene]]. | ||
* Familial adenomatous polyposis has [[autosomal recessive]] inheritance pattern if it results from mutations in the [[MUTYH|''MUTYH'' gene]]. | * Familial adenomatous polyposis has [[autosomal recessive]] inheritance pattern if it results from mutations in the [[MUTYH|''MUTYH'' gene]]. | ||
* mutation is found in | |||
6% of Ashkenazi Jews and in about 28% of those of | |||
Ashkenazi descent with a family history of colorectal cancer. | |||
==Associated Conditions== | ==Associated Conditions== | ||
Revision as of 21:20, 29 January 2018
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Familial adenomatous polyposis Microchapters |
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Differentiating Familial adenomatous polyposis from other Diseases |
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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:[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.
- Mutation is seen in 6% of Ashkenazi Jews.
- Mutation is seen in about 28% of those of Ashkenazi descent with a family history of colorectal cancer.
- 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.
- mutation is found in
6% of Ashkenazi Jews and in about 28% of those of Ashkenazi descent with a family history of colorectal cancer.
Associated Conditions
Familial adenomatous polyposis is associated with other gastrointestinal and extra intestinal conditions including:[2][3][4]
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
Gross Pathology
Microscopic Pathology
References
- ↑ 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.
- ↑ King, John E.; Dozois, Roger R.; Lindor, Noralane M.; Ahlquist, David A. (2000). "Care of Patients and Their Families With Familial Adenomatous Polyposis". Mayo Clinic Proceedings. 75 (1): 57–67. doi:10.4065/75.1.57. ISSN 0025-6196.