Difference between revisions of "Familial adenomatous polyposis"
Jump to navigation
Jump to search
(create) |
(more) |
||
| Line 6: | Line 6: | ||
==Gene== | ==Gene== | ||
*APC gene. | *APC gene. | ||
==Variants== | |||
It comes in two flavours: | |||
#FAP (no otherwise specified - the plain vanilla flavour). | |||
#*Many polyps - typically > 100. | |||
#Attenuated FAP, abbreviated AFAP. | |||
#*Less polyps - typically 10 to 100.<ref name=pmid19822006>{{cite journal |author=Half E, Bercovich D, Rozen P |title=Familial adenomatous polyposis |journal=Orphanet J Rare Dis |volume=4 |issue= |pages=22 |year=2009 |pmid=19822006 |pmc=2772987 |doi=10.1186/1750-1172-4-22 |url=}}</ref> | |||
#**As one my think... they tend to get cancer later than (the plain vanilla) FAP. | |||
==Associations== | ==Associations== | ||
Revision as of 19:44, 4 March 2011
Familial adenomatous polyposis, abbreviated FAP and also known as familial polyposis coli, is a genetic condition that predisposes to adenomatous polyps and thus invariably results in colorectal cancer.
Inheritance
- Autosomal dominant.
Gene
- APC gene.
Variants
It comes in two flavours:
- FAP (no otherwise specified - the plain vanilla flavour).
- Many polyps - typically > 100.
- Attenuated FAP, abbreviated AFAP.
- Less polyps - typically 10 to 100.[1]
- As one my think... they tend to get cancer later than (the plain vanilla) FAP.
- Less polyps - typically 10 to 100.[1]
Associations
Benign things:
Tumours:[1]
- Hepatoblastoma.
- Colorectal carcinoma.
- Gastric adenocarcinoma.
- Papillary thyroid carcinoma, cribriform-morular variant.[3]
Benign tumours:[1]
Prevalence
1/11,300-37,600 in Europe.[1]
See also
References
- ↑ 1.0 1.1 1.2 1.3 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.