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Mechanisms underlying neoplasia-associated genomic rearrangements

Författare

Redaktör

  • James R Lupski
  • P Stankiewicz

Summary, in English

Neoplastic disorders are characterized by recurrent somatically acquired chromosomal aberrations that alter the structure and/or expression of a large number of genes. Most “cancer genes” discovered to date in human neoplasms have been identified through isolation of genes at the breakpoints of balanced chromosomal translocations. Although functional studies of such cancer-causing genes have demonstrated their causal role in tumorigenesis, the mechanisms underlying the formation of recurrent chromosomal changes in cancer remain enigmatic. Low-copy repeats (LCRs) are important mediators of erroneous meiotic recombination, resulting in constitutional chromosomal rearrangements. Recently, LCRs have been implicated in the formation of the frequent and characteristic neoplasia-associated chromosomal aberrations t(9;22)(q34;q1 1) and i(17q), suggesting that similar genome architecture features may play an important role in generating also other somatic chromosomal rearrangements.

Publiceringsår

2006

Språk

Engelska

Sidor

327-337

Publikation/Tidskrift/Serie

Genomic disorders: The Genomic basis of disease

Dokumenttyp

Del av eller Kapitel i bok

Förlag

Humana Press

Ämne

  • Medical Genetics

Status

Published

ISBN/ISSN/Övrigt

  • ISBN: 978-1-58829-559-0