Difference between revisions of "Familial adenomatous polyposis"
Jump to navigation
Jump to search
m (→Associations) |
|||
| Line 29: | Line 29: | ||
The term is somewhat ambiguous and probably ought to be avoided: | The term is somewhat ambiguous and probably ought to be avoided: | ||
*Half ''et al.''<ref name=pmid19822006>{{Cite journal | last1 = Half | first1 = E. | last2 = Bercovich | first2 = D. | last3 = Rozen | first3 = P. | title = Familial adenomatous polyposis. | journal = Orphanet J Rare Dis | volume = 4 | issue = | pages = 22 | month = | year = 2009 | doi = 10.1186/1750-1172-4-22 | PMID = 19822006 | PMC = 2772987}}</ref> says Turcot syndrome is FAP associated with a [[medulloblastoma]]... while OMIM says Turcot syndrome is tied to [[Lynch syndrome]] and autosomal recessive.<ref name=omim175100>{{OMIM|175100}}</ref> | *Half ''et al.''<ref name=pmid19822006>{{Cite journal | last1 = Half | first1 = E. | last2 = Bercovich | first2 = D. | last3 = Rozen | first3 = P. | title = Familial adenomatous polyposis. | journal = Orphanet J Rare Dis | volume = 4 | issue = | pages = 22 | month = | year = 2009 | doi = 10.1186/1750-1172-4-22 | PMID = 19822006 | PMC = 2772987}}</ref> says Turcot syndrome is FAP associated with a [[medulloblastoma]]... while OMIM says Turcot syndrome is tied to [[Lynch syndrome]] and autosomal recessive.<ref name=omim175100>{{OMIM|175100}}</ref> | ||
**The | **The discussions by Half ''et al.''<ref name=pmid19822006/> and in [[OMIM]]<ref name=omim175100>{{OMIM|175100}}</ref> are informative. | ||
==FAP associations== | ==FAP associations== | ||
Revision as of 21:36, 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
FAP 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]
Gardner syndrome
FAP with prominent extraintestinal manifestations - including:[3]
- Osteomas.
- Desmoid tumours.
- Congenital hypertrophy of the retinal pigment epithelium.
- Fibromas.
- Epidermal inclusion cysts.[2]
- Osteosclerotic jaw lesions.[2]
Turcot syndrome
The term is somewhat ambiguous and probably ought to be avoided:
- Half et al.[3] says Turcot syndrome is FAP associated with a medulloblastoma... while OMIM says Turcot syndrome is tied to Lynch syndrome and autosomal recessive.[2]
FAP associations
Benign things:
Malignant tumours:[3]
- Hepatoblastoma.
- Medulloblastoma.
- 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 2.2 2.3 2.4 2.5 Online 'Mendelian Inheritance in Man' (OMIM) 175100
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 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/. Cite error: Invalid
<ref>tag; name "pmid19822006" defined multiple times with different content Cite error: Invalid<ref>tag; name "pmid19822006" defined multiple times with different content Cite error: Invalid<ref>tag; name "pmid19822006" defined multiple times with different content Cite error: Invalid<ref>tag; name "pmid19822006" defined multiple times with different content Cite error: Invalid<ref>tag; name "pmid19822006" defined multiple times with different content - ↑ 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.