Uniparental disomy in cancer

Trends Mol Med. 2009 Mar;15(3):120-8. doi: 10.1016/j.molmed.2009.01.005. Epub 2009 Feb 25.


Uniparental disomy (UPD) results when both copies of a chromosome pair originate from one parent. In humans, this might result in developmental disease or cancer due to either the production of homozygosity (caused by mutated or methylated genes or by microRNA sequences) or an aberrant pattern of imprinting. Constitutional UPD is associated with meiotic errors, resulting in developmental diseases, whereas acquired UPD probably occurs as a result of a mitotic error in somatic cells, which can be an important step in cancer development and progression. This review summarizes the mechanisms underlying UPD and their emerging association with cancer.

Publication types

  • Review

MeSH terms

  • Chromosome Disorders / genetics
  • Chromosome Disorders / physiopathology
  • Humans
  • Loss of Heterozygosity
  • Neoplasms / genetics*
  • Neoplasms / physiopathology
  • Uniparental Disomy*