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Colon tumor

Familial polyposis syndromes

MUTYH/MYH associated polyposis

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

Clinical features

● Gene is at 1p; protein is base excision repair enzyme (Ned Tijdschr Geneeskd 2005;149:2970)
● Autosomal recessive
● Biallelic patients (mutations in both genes) have multiple adenomas (Hum Mutat 2006;27:1064), 93x excess risk of colorectal carcinoma compared to normal controls, but account for <1% of all cases (Am J Hum Genet 2005;77:112)
● Overlaps with familial adenomatous polyposis, although MUTYH patients often had attenuated or atypical phenotype (Int J Cancer 2006;119:807)

Case reports

● With duodenal carcinoma (J Clin Pathol 2006;59:1212)

Additional references

OMIM 604933

End of Colon tumor > Familial polyposis syndromes > MUTYH/MYH associated polyposis

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