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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer

Author

  • Christina Therkildsen
  • Göran B Jönsson
  • Mev Dominguez
  • Anja Nissen
  • Eva Rambech
  • Britta Halvarsson
  • Inge Bernstein
  • Åke Borg
  • Mef Nilbert

Summary, in English

Lynch syndrome and familial colorectal cancer type X, FCCTX, represent the two predominant colorectal cancer syndromes. Whereas Lynch syndrome is clinically and genetically well defined, the genetic cause of FCCTX is unknown and genomic differences between Lynch syndrome and FCCTX tumours are largely unknown. We applied array-based comparative genomic hybridisation to 23 colorectal cancers from FCCTX with comparison to 23 Lynch syndrome tumours and to 45 sporadic colorectal cancers. FCCTX tumours showed genomic complexity with frequent gains on chromosomes 20q, 19 and 17 and losses of 18, 8p and 15. Gain of genetic material in two separate regions encompassing, 20q12-13.12 and 20q13.2-13.32, was identified in 65% of the FCCTX tumours. Gain of material on chromosome 20q and loss on chromosome 18 significantly discriminated colorectal cancers associated with FCCTX from Lynch syndrome, which likely signifies different preferred tumourigenic pathways. (C) 2012 Elsevier Ltd. All rights reserved.

Department/s

  • Breastcancer-genetics
  • EpiHealth: Epidemiology for Health
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation

Publishing year

2013

Language

English

Pages

1226-1235

Publication/Series

European Journal of Cancer

Volume

49

Issue

6

Document type

Journal article

Publisher

Elsevier

Topic

  • Cancer and Oncology

Keywords

  • Array-based comparative genomic hybridisation
  • HNPCC
  • Microsatellite
  • instability
  • MMR deficiency

Status

Published

ISBN/ISSN/Other

  • ISSN: 1879-0852