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Pathogenesis and consequences of uniparental disomy in cancer.

ABSTRACT: The systematic application of new genome-wide single nucleotide polymorphism arrays has demonstrated that somatically acquired regions of loss of heterozygosity without changes in copy number frequently occur in many types of cancer. Until recently, the ubiquity of this type of chromosomal defect had gone unrecognized because it cannot be detected by routine cytogenetic technologies. Random and recurrent patterns of copy-neutral loss of heterozygosity, also referred to as uniparental disomy, can be found in specific cancer types and probably contribute to clonal outgrowth owing to various mechanisms. In this review we explore the types, topography, genesis, pathophysiological consequences, and clinical implications of uniparental disomy.

SUBMITTER: Makishima H

PROVIDER: S-EPMC3523887 | biostudies-other | 2011 Jun

REPOSITORIES: biostudies-other

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Pathogenesis and consequences of uniparental disomy in cancer.

Makishima Hideki H Maciejewski Jaroslaw P JP

Clinical cancer research : an official journal of the American Association for Cancer Research 20110425 12

The systematic application of new genome-wide single nucleotide polymorphism arrays has demonstrated that somatically acquired regions of loss of heterozygosity without changes in copy number frequently occur in many types of cancer. Until recently, the ubiquity of this type of chromosomal defect had gone unrecognized because it cannot be detected by routine cytogenetic technologies. Random and recurrent patterns of copy-neutral loss of heterozygosity, also referred to as uniparental disomy, can ...[more]

PMID: 21518781

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Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing.

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Patterns of somatic uniparental disomy identify novel tumor suppressor genes in colorectal cancer.

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Uniparental disomy in a population of 32,067 clinical exome trios.

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| S-EPMC8187148 | biostudies-literature

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