Attenuated familial adenomatous polyposis

A case report with mixed features and review of genotype-phenotype correlation

Diana N. Ionescu, Georgios Papachristou, Robert E. Schoen, Madhuri Hedge, Carolyn (Sue) Richards, Federico A. Monzon

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Familial adenomatous polyposis represents approximately 1% of all colorectal cancers and is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Most mutations are located within the first 2000 codons, and several mutational hot spots have been identified. The relative location of the mutation may be associated with the number of polyps and partially predicts specific phenotypic expression. Mutations associated with the attenuated phenotype are found predominantly in the 5′ region of the gene or in the last third. We describe a patient with a mutation in codon 161 of the APC gene, which displays a phenotype most closely resembling the attenuated form of familial adenomatous polyposis, and review the literature, the implications of this mutation, and the importance of the molecular testing in the proper and more complete characterization of these patients. Differences in the APC mutation sites alone cannot completely account for intrafamilial and interfamilial variation in the polyposis phenotypes.

Original languageEnglish (US)
Pages (from-to)1401-1404
Number of pages4
JournalArchives of Pathology and Laboratory Medicine
Volume129
Issue number11
StatePublished - Nov 2005
Externally publishedYes

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Genetic Association Studies
Mutation
APC Genes
Adenomatous Polyposis Coli
Phenotype
Codon
Germ-Line Mutation
Polyps
Attenuated familial adenomatous polyposis
Colorectal Neoplasms
Genes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

Cite this

Attenuated familial adenomatous polyposis : A case report with mixed features and review of genotype-phenotype correlation. / Ionescu, Diana N.; Papachristou, Georgios; Schoen, Robert E.; Hedge, Madhuri; Richards, Carolyn (Sue); Monzon, Federico A.

In: Archives of Pathology and Laboratory Medicine, Vol. 129, No. 11, 11.2005, p. 1401-1404.

Research output: Contribution to journalArticle

Ionescu, Diana N. ; Papachristou, Georgios ; Schoen, Robert E. ; Hedge, Madhuri ; Richards, Carolyn (Sue) ; Monzon, Federico A. / Attenuated familial adenomatous polyposis : A case report with mixed features and review of genotype-phenotype correlation. In: Archives of Pathology and Laboratory Medicine. 2005 ; Vol. 129, No. 11. pp. 1401-1404.
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