Challenges and pitfalls in HNPCC: a pedigree of an Austrian HNPCC family beyond four generations!

  • T. Winder
  • A. Mündlein
  • K. Gasser
  • G. Lingg
  • J. Walser
  • J. Karner-Hanusch
  • K. Dirschmid
  • H. Drexel
  • A. Lang
Original Report
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Summary

In this study we present an Austrian family with HNPCC, which was diagnosed by clinical criteria (Amsterdam I). Subsequent to the diagnosis, genetic counselling and testing was offered to all family members. A causal mutation was detected in exon 12 of the MLH1 gene by determining the genomic sequence. The mutation had resulted in the deletion of an adenine nucleotide at position 1343 (c.1343delA; respective cDNA NCBI accession number: NM_000249), creating a new reading frame (p.E448fs). Within this pedigree it was possible, with frequent colonoscopy screening, to detect an early-stage tumour localised in the coecum. Furthermore, there is evidence for genetic anticipation. The median ages at diagnosis of colorectal cancer decreased from 51.5 in the second generation to 33.5 in the third generation.

Keywords

HNPCC Lynch Syndrome Colorectal cancer Anticipation Surveillance 

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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • T. Winder
    • 1
    • 2
    • 3
  • A. Mündlein
    • 2
    • 3
  • K. Gasser
    • 1
  • G. Lingg
    • 5
  • J. Walser
    • 5
  • J. Karner-Hanusch
    • 6
  • K. Dirschmid
    • 4
  • H. Drexel
    • 1
    • 2
    • 3
  • A. Lang
    • 1
    • 3
  1. 1.Department of MedicineAcademic Teaching Hospital FeldkirchFeldkirchAustria
  2. 2.University of Human Sciences in Private University in the Principality of LiechtensteinTriesenPrincipality of Liechtenstein
  3. 3.Vorarlberg Institute for Vascular Investigation and Treatment (VIVIT)FeldkirchAustria
  4. 4.Department of PathologyAcademic Teaching Hospital FeldkirchFeldkirchAustria
  5. 5.Specialists for Internal MedicineDornbirnAustria
  6. 6.Department of General SurgeryMedical University ViennaViennaAustria

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