Difference between revisions of "Familial adenomatous polyposis"

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#*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>
#*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.
#**As one my think... they tend to get cancer later than (the plain vanilla) FAP.
===Gardner syndrome===
===Turcot syndrome===
FAP associated with a [[medulloblastoma]].<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>


==Associations==
==Associations==

Revision as of 17:32, 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:

  1. FAP (no otherwise specified - the plain vanilla flavour).
    • Many polyps - typically > 100.
  2. 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.

Gardner syndrome

Turcot syndrome

FAP associated with a medulloblastoma.[3]

Associations

Benign things:

Tumours:[3]

Benign tumours:[3]

Prevalence

1/11,300-37,600 in Europe.[3]

See also

References

  1. 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. 2.0 2.1 Online 'Mendelian Inheritance in Man' (OMIM) 175100
  3. 3.0 3.1 3.2 3.3 3.4 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
  4. 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.
  5. 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.