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Am J Hum Genet. 2011 Apr 8;88(4):402-21. doi: 10.1016/j.ajhg.2011.03.005.

Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.

Author information

1
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Abstract

Mutations in genes that play fundamental roles in metabolic pathways have been found to also play a role in tumor development and susceptibility to cancer. At the same time, significant progress has been made in the treatment of patients with inborn errors of metabolism (IEM),(1) resulting in increased longevity and the unmasking of cancer predisposition, frequently hepatocellular carcinoma, in these conditions. These patients offer a potential opportunity to deepen our understanding of how intermediary metabolism impacts tumorigenesis. We provide an overview from the perspective of cancers in patients affected with IEM and discuss how dysregulation of these specific metabolic pathways might contribute to the mechanisms of cancer development and treatment.

PMID:
21473982
PMCID:
PMC3071916
DOI:
10.1016/j.ajhg.2011.03.005
[Indexed for MEDLINE]
Free PMC Article

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