Journal Article

Constitutional aneuploidy and cancer predisposition

Ithamar Ganmore, Gil Smooha and Shai Izraeli

in Human Molecular Genetics

Volume 18, issue R1, pages R84-R93
Published in print April 2009 | ISSN: 0964-6906
Published online April 2009 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddp084
Constitutional aneuploidy and cancer predisposition

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Constitutional aneuploidies are rare syndromes associated with multiple developmental abnormalities and the alterations in the risk for specific cancers. Acquired somatic chromosomal aneuploidies are the most common genetic aberrations in sporadic cancers. Thus studies of these rare constitutional aneuploidy syndromes are important not only for patient counseling and clinical management, but also for deciphering the mechanisms by which chromosomal aneuploidy affect cancer initiation and progression. Here we review the major constitutional aneuploidy syndromes and suggest some general mechanisms for the associated cancer predisposition.

Journal Article.  5484 words.  Illustrated.

Subjects: Genetics and Genomics

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