Familial Cancer

, Volume 11, Issue 3, pp 525–528 | Cite as

Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer

  • Silva SaarinenEmail author
  • Pia Vahteristo
  • Rainer Lehtonen
  • Kristiina Aittomäki
  • Virpi Launonen
  • Tuula Kiviluoto
  • Lauri A. Aaltonen
Short Communication


Tylosis with esophageal cancer (TOC) is a rare familial cancer syndrome inherited in an autosomal-dominant manner and characterized by esophageal cancer susceptibility and hyperkeratotic skin lesions. Two heterozygous missense mutations in the RHBDF2 gene were recently reported to be associated with TOC in three families: a p.Ile186Thr mutation was found in families from the UK and the US and a p.Pro189Leu mutation was detected in a German TOC family. We aimed to validate these novel results in an independent material by screening RHBDF2 in a previously unreported Finnish TOC family. We identified a new missense mutation, p.Asp188Asn, segregating with TOC in the Finnish family, and interestingly the detected mutation alters a codon located between the two previously reported mutation sites. Thus, we confirmed RHBDF2 mutations as the underlying cause of the TOC syndrome and our results suggest that the TOC associated mutations might be specific for this particular site in the RHBDF2 gene. These results enable the genetic counseling and diagnostic mutation screening of the members of TOC families.


Tylosis RHBDF2 Esophageal cancer Hyperkeratosis 



The authors would like to thank Mairi Kuris and Sini Nieminen for technical assistance. The study was supported by grants from the Academy of Finland (Center of Excellence in Translational Genome-Scale Biology and Grant 212901).

Conflict of interests

The authors declare no conflicts of interest.


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Copyright information

© Springer Science+Business Media B.V. 2012

Authors and Affiliations

  • Silva Saarinen
    • 1
    Email author
  • Pia Vahteristo
    • 1
  • Rainer Lehtonen
    • 1
    • 4
  • Kristiina Aittomäki
    • 2
  • Virpi Launonen
    • 1
  • Tuula Kiviluoto
    • 3
  • Lauri A. Aaltonen
    • 1
  1. 1.Department of Medical Genetics, Genome-Scale Biology Research ProgramUniversity of HelsinkiHelsinkiFinland
  2. 2.Department of Clinical GeneticsHelsinki University Central HospitalHelsinkiFinland
  3. 3.Department of SurgeryHelsinki University Central HospitalHelsinkiFinland
  4. 4.Department of Biological SciencesUniversity of HelsinkiHelsinkiFinland

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