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Case Reports
. 2009 Jul;53(1):116-20.
doi: 10.1002/pbc.21957.

Pediatric duodenal cancer and biallelic mismatch repair gene mutations

Sumita Roy  1 , Leon Raskin, Victoria M Raymond, Stephen N Thibodeau, Rajen J Mody, Stephen B Gruber
Affiliations
Free article
Case Reports

Pediatric duodenal cancer and biallelic mismatch repair gene mutations

Sumita Roy et al. Pediatr Blood Cancer. 2009 Jul.
Free article

Abstract

Gastrointestinal malignancies are extremely rare in the pediatric population, and duodenal cancers represent an even more unusual entity. Intestinal cancers in young adults and children have been observed to be associated with functional deficiencies of the mismatch repair (MMR) system causing a cancer-predisposition syndrome. We report the case of a 16-year-old female with duodenal adenocarcinoma and past history of medulloblastoma found to have a novel germline bialleleic truncating mutation (c.[949C>T]+[949C>T]) of the PMS2 gene.

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