Journal
PEDIATRIC BLOOD & CANCER
Volume 53, Issue 1, Pages 116-120Publisher
WILEY
DOI: 10.1002/pbc.21957
Keywords
biallelic; children and young adults; duodenal adenocarcinoma; mismatch repair
Categories
Funding
- National Institutes of Health [5 P30 CA46592]
- NCI [R01 CA81488]
- University of Michigan Cancer Genetics Registry
- NRSA [5 T32 HD007513-11]
Ask authors/readers for more resources
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. Pediatr Blood Cancer 2009;53:116-120. (C) 2009 Wiley-Liss, Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available