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Mechanisms underlying neoplasia-associated genomic rearrangements

  • Thoas Fioretos
  • James R Lupski
  • P Stankiewicz
Publishing year: 2006
Language: English
Pages: 327-337
Publication/Series: Genomic disorders: The Genomic basis of disease
Document type: Book chapter
Publisher: Humana Press

Abstract 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.


  • Medical Genetics


  • ISBN: 978-1-58829-559-0
Thoas Fioretos
E-mail: thoas.fioretos [at]

Principal investigator

Division of Clinical Genetics

+46 46 222 45 95

+46 70 334 33 67