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Article

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

The American journal of gastroenterology - 1 Aug 2005

Agostini Marco, Tibiletti Maria Grazia, Lucci-Cordisco Emanuela, Chiaravalli Annamaria, Morreau Hans, Furlan Daniela, Boccuto Luigi, Pucciarelli Salvatore, Capella Carlo, Boiocchi Mauro, Viel Alessandra

Abstract excerpt

We report the clinicopathological, genetic, and immunohistochemical characterization of an atypical Turcot syndrome (TS) family with small bowel cancer. The tumor family history of a patient with cafè-au-lait spots (CALS) and early onset adenomas, duodenal cancer, and glioblastoma was positive for colonic adenoma (mother), jejunal (maternal grandfather), lung (father), and colorectal (paternal uncle) cancers....

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Identifiers

PMID: 16144131
DOI: 10.1111/j.1572-0241.2005.50441.x

Genes

PMS2

Variants

Provenance

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