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Colon tumor

Familial polyposis syndromes

Hereditary mixed polyposis syndrome and colon


Reviewers: Charanjeet Singh, M.D. (see Reviewers page)
Revised: 15 October 2011, last major update September 2011
Copyright: (c) 2003-2011, PathologyOutlines.com, Inc.

Definition
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● Uncommon
● Autosomal dominant (OMIM 601228)

Micro description
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● Polyps of mixed histologic types (tubular adenomas, villous adenomas, flat adenomas, hyperplastic polyps and atypical juvenile polyps), totaling <15 per patient
● Most polyps are adenomas

Molecular description
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● Due to mutation in bone morphogenesis protein receptor 1A (OMIM 601299) in one family study (J Med Genet 2006;43:e13)
● 15q13-14 in Ashkenazi Jews (Am J Gastroenterol 2003;98:2317, Am J Hum Genet 2003;72:1261), different haplotype in Singapore (Zhonghua Wei Chang Wai Ke Za Zhi 2005;8:312)

End of Colon tumor > Familial polyposis syndromes > Hereditary mixed polyposis syndrome and colon


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