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Difference between revisions of "Familial adenomatous polyposis"
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'''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> | '''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== | ==General== | ||
*Life expectancy 40-50 years.<ref>{{Cite journal | last1 = Iwama | first1 = T. | last2 = Tamura | first2 = K. | last3 = Morita | first3 = T. | last4 = Hirai | first4 = T. | last5 = Hasegawa | first5 = H. | last6 = Koizumi | first6 = K. | last7 = Shirouzu | first7 = K. | last8 = Sugihara | first8 = K. | last9 = Yamamura | first9 = T. | title = A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan. | journal = Int J Clin Oncol | volume = 9 | issue = 4 | pages = 308-16 | month = Aug | year = 2004 | doi = 10.1007/s10147-004-0414-4 | PMID = 15375708 }}</ref> | |||
Leading causes of death in FAP (according to ''The American Society of Colon and Rectal Surgeons''):<ref>URL: [http://www.fascrs.org/physicians/education/core_subjects/2006/fap/ http://www.fascrs.org/physicians/education/core_subjects/2006/fap/]. Accessed on: 7 May 2012.</ref> | |||
#[[Colorectal carcinoma]]. | |||
#[[Desmoid tumour]] | |||
#Ampullary adenocarcinoma ([[duodenal adenocarcinoma]]). | |||
===Inheritance=== | |||
*Autosomal dominant. | *Autosomal dominant. | ||
==Gene== | ===Gene=== | ||
*APC gene<ref name=omim175100>{{OMIM|175100}}</ref> mutation. | *APC gene<ref name=omim175100>{{OMIM|175100}}</ref> mutation. | ||