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Uniparental Disomy in Cancer – A New Tool in Molecular Cancer

  1. Musaffe Tuna,
  2. Christopher I Amos

Published Online: 19 MAY 2010

DOI: 10.1002/9780470015902.a0022430

eLS

eLS

How to Cite

Tuna, M. and Amos, C. I. 2010. Uniparental Disomy in Cancer – A New Tool in Molecular Cancer. eLS. .

Author Information

  1. The University of Texas MD Anderson Cancer Center, Houston, Texas, USA

Publication History

  1. Published Online: 19 MAY 2010

Abstract

The cancer genome project has attempted to provide the complete landscape of existing mutations in tumours, but sequencing the whole genome for all tumour types is a challenging goal. Recently a novel form of abnormality in various cancers, acquired uniparental disomy (aUPD), has been revealed. aUPD regions may pinpoint the mutated genes for next generation sequencing. Therefore, identifying the aUPD regions can help to identify novel candidate genes for mutation analysis instead of randomly sequencing the genome, may help to distinguish driver genes from passenger, lead to the discovery of novel therapeutic targets and provide important prognostic information, which may thus lead to important clinical applications.

Key Concepts:

  • Acquired uniparental disomy is a novel form of abnormality in cancer.

  • The regions of acquired uniparental disomy pinpoint homozygously mutated or methylated genes.

  • Homozygously mutated genes in aUPD regions may be tumour-suppressor or oncogenes.

  • Homozygously mutated genes in aUPD regions may be involved in tumourigenesis.

  • aUPD regions may correlate with outcome of disease, so can be of use as prognostic marker.

Keywords:

  • acquired uniparental disomy;
  • genome;
  • mutation;
  • solid tumours;
  • leukaemia;
  • myeloproliferative neoplasia;
  • lymphoma