Difference between revisions of "Familial adenomatous polyposis"
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'''Familial adenomatous polyposis''', abbreviated '''FAP''' and also known as '''familial polyposis coli''' and '''adenomatous polyposis coli''', is a genetic condition that predisposes to [[adenomatous polyps]] and thus invariably results in [[colorectal cancer]]. | '''Familial adenomatous polyposis''', abbreviated '''FAP''' and also known as '''familial polyposis coli''' and '''adenomatous polyposis coli''', is a genetic condition that predisposes to [[adenomatous polyps]] and thus invariably results in [[colorectal cancer]]. | ||
'''Gardner syndrome''' is a subset of FAP. Both FAP and Gardner syndrome have a mutation in the FAP gene.<ref name=omim175100>{{OMIM|175100}}</ref> | '''Gardner syndrome'''<ref name=pmid14902760>{{Cite journal | last1 = GARDNER | first1 = EJ. | title = A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. | journal = Am J Hum Genet | volume = 3 | issue = 2 | pages = 167-76 | month = Jun | year = 1951 | doi = | PMID = 14902760 }}</ref> is a subset of FAP. Both FAP and Gardner syndrome have a mutation in the FAP gene.<ref name=omim175100>{{OMIM|175100}}</ref> | ||
==Inheritance== | ==Inheritance== | ||
Revision as of 17:00, 3 September 2011
Familial adenomatous polyposis, abbreviated FAP and also known as familial polyposis coli and adenomatous polyposis coli, is a genetic condition that predisposes to adenomatous polyps and thus invariably results in colorectal cancer.
Gardner syndrome[1] is a subset of FAP. Both FAP and Gardner syndrome have a mutation in the FAP gene.[2]
Inheritance
- Autosomal dominant.
Gene
- APC gene[2] mutation.
Variants
It comes in two main flavours:
- FAP (no otherwise specified - the plain vanilla flavour).
- Many polyps - typically > 100.
- Attenuated FAP, abbreviated AFAP.
- Less polyps - typically 10 to 100.[3]
- As one my think... they tend to get cancer later than (the plain vanilla) FAP.
- Less polyps - typically 10 to 100.[3]
Associations
Benign things:
Tumours:[3]
- Hepatoblastoma.
- Colorectal carcinoma.
- Gastric adenocarcinoma.
- Papillary thyroid carcinoma, cribriform-morular variant.[5]
Benign tumours:[3]
Prevalence
1/11,300-37,600 in Europe.[3]
See also
- Colorectal carcinoma.
- Adenomatous polyps.
- MUTYH polyposis syndrome - an autosomal recessive polyposis syndrome.
References
- ↑ GARDNER, EJ. (Jun 1951). "A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum.". Am J Hum Genet 3 (2): 167-76. PMID 14902760.
- ↑ 2.0 2.1 Online 'Mendelian Inheritance in Man' (OMIM) 175100
- ↑ 3.0 3.1 3.2 3.3 Half E, Bercovich D, Rozen P (2009). "Familial adenomatous polyposis". Orphanet J Rare Dis 4: 22. doi:10.1186/1750-1172-4-22. PMC 2772987. PMID 19822006. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2772987/.
- ↑ Freeman HJ (March 2008). "Proton pump inhibitors and an emerging epidemic of gastric fundic gland polyposis". World J. Gastroenterol. 14 (9): 1318-20. PMID 18322941. http://www.wjgnet.com/1007-9327/14/1318.asp.
- ↑ Groen EJ, Roos A, Muntinghe FL, et al. (September 2008). "Extra-intestinal manifestations of familial adenomatous polyposis". Ann. Surg. Oncol. 15 (9): 2439–50. doi:10.1245/s10434-008-9981-3. PMC 2518080. PMID 18612695. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518080/?tool=pubmed.