Journal
PEDIATRIC BLOOD & CANCER
Volume 47, Issue 6, Pages 851-854Publisher
WILEY
DOI: 10.1002/pbc.20556
Keywords
APC gene; familial adenomatous polyposis; hepatoblastoma; inherited cancer syndrome
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Two brothers with hepatoblastoma were noted to have a family history of early onset colon cancer. Genetic testing of the younger brother revealed a deletion in exon 15 of the adenomatous polyposis coli (APC) gene (2710-2711 delAG), consistent with a diagnosis of familial adenomatous polyposis (FAP). We review the clinical and molecular aspects of the relationship between hepatoblastoma and FAP, and the implications for diagnostic testing and cancer screening in affected patients.
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