Short Communication

Familial Cancer

, Volume 11, Issue 3, pp 525-528

First online:

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

  • Silva SaarinenAffiliated withDepartment of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki Email author 
  • , Pia VahteristoAffiliated withDepartment of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki
  • , Rainer LehtonenAffiliated withDepartment of Medical Genetics, Genome-Scale Biology Research Program, University of HelsinkiDepartment of Biological Sciences, University of Helsinki
  • , Kristiina AittomäkiAffiliated withDepartment of Clinical Genetics, Helsinki University Central Hospital
  • , Virpi LaunonenAffiliated withDepartment of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki
  • , Tuula KiviluotoAffiliated withDepartment of Surgery, Helsinki University Central Hospital
  • , Lauri A. AaltonenAffiliated withDepartment of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki

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Abstract

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.

Keywords

Tylosis RHBDF2 Esophageal cancer Hyperkeratosis