Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis

Mustafa Raoof, Robert J Canter, Philip B. Paty

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Germline mutations in the Mutant-Y-homologue (MYH) gene have been linked to an attenuated form of familial adenomatous polyposis in patients who express a wild-type adenomatous polyposis coli gene. However, the diverse clinical manifestations of MYH mutations have not been fully elucidated. We report a case of siblings with identical germline mutations in the MYH gene, one of whom developed a locally advanced colon adenocarcinoma with few other adenomatous lesions, whereas the other had numerous benign colonic polyps. The variable genotype-phenotype manifestations of MYH mutations and the attenuated familial adenomatous polyposis syndrome are discussed.

Original languageEnglish (US)
Pages (from-to)1250-1253
Number of pages4
JournalAmerican Surgeon
Volume73
Issue number12
StatePublished - Dec 2007
Externally publishedYes

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Germ-Line Mutation
Siblings
Colonic Polyps
APC Genes
Mutation
Adenomatous Polyposis Coli
Genes
Colon
Adenocarcinoma
Genotype
Phenotype
Attenuated familial adenomatous polyposis

ASJC Scopus subject areas

  • Surgery

Cite this

Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis. / Raoof, Mustafa; Canter, Robert J; Paty, Philip B.

In: American Surgeon, Vol. 73, No. 12, 12.2007, p. 1250-1253.

Research output: Contribution to journalArticle

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