Uniparental disomy in cancer

Musaffe Tuna, Sakari Knuutila, Gordon B. Mills

Research output: Contribution to journalReview articlepeer-review

151 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)120-128
Number of pages9
JournalTrends in Molecular Medicine
Issue number3
StatePublished - Mar 2009
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology


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