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

  • Christina Therkildsen
  • Göran B Jönsson
  • Mev Dominguez
  • Anja Nissen
  • Eva Rambech
  • Britta Halvarsson
  • Inge Bernstein
  • Åke Borg
  • Mef Nilbert
Publishing year: 2013
Language: English
Pages: 1226-1235
Publication/Series: European Journal of Cancer
Volume: 49
Issue: 6
Document type: Journal article
Publisher: IFAC & Elsevier Ltd.

Abstract 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.


  • Cancer and Oncology
  • Array-based comparative genomic hybridisation
  • Microsatellite
  • instability
  • MMR deficiency


  • ISSN: 1879-0852
Åke Borg
Åke Borg
E-mail: ake [dot] borg [at] med [dot] lu [dot] se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2


Project manager

Familial Breast Cancer



Oncology and Pathology, MV

MV 404 C21C2