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> | |||
==Inheritance== | ==Inheritance== | ||
| Line 5: | Line 7: | ||
==Gene== | ==Gene== | ||
*APC gene. | *APC gene<ref name=omim175100>{{OMIM|175100}}</ref> mutation. | ||
==Variants== | ==Variants== | ||
Revision as of 16:57, 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 is a subset of FAP. Both FAP and Gardner syndrome have a mutation in the FAP gene.[1]
Inheritance
- Autosomal dominant.
Gene
- APC gene[1] 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.[2]
- As one my think... they tend to get cancer later than (the plain vanilla) FAP.
- Less polyps - typically 10 to 100.[2]
Associations
Benign things:
Tumours:[2]
- Hepatoblastoma.
- Colorectal carcinoma.
- Gastric adenocarcinoma.
- Papillary thyroid carcinoma, cribriform-morular variant.[4]
Benign tumours:[2]
Prevalence
1/11,300-37,600 in Europe.[2]
See also
- Colorectal carcinoma.
- Adenomatous polyps.
- MUTYH polyposis syndrome - an autosomal recessive polyposis syndrome.
References
- ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 175100
- ↑ 2.0 2.1 2.2 2.3 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.