No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • Verena Steinke - , Universität Bonn (Autor:in)
  • Nils Rahner - , Universität Bonn (Autor:in)
  • Monika Morak - , Ludwig-Maximilians-Universität München (LMU), Center for Medical Genetics and Primary Health Care (Autor:in)
  • Gisela Keller - , Technische Universität München (Autor:in)
  • Hans K. Schackert - , Abteilung Chirurgische Forschung (Autor:in)
  • Heike Görgens - , Abteilung Chirurgische Forschung (Autor:in)
  • Wolff Schmiegel - , Ruhr-Universität Bochum (Autor:in)
  • Brigitte Royer-Pokora - , Heinrich Heine Universität Düsseldorf (Autor:in)
  • Wolfgang Dietmaier - , Universität Regensburg (Autor:in)
  • Matthias Kloor - , Universität Heidelberg (Autor:in)
  • Christoph Engel - , Universität Leipzig (Autor:in)
  • Peter Propping - , Universität Bonn (Autor:in)
  • Stefan Aretz - , Universität Bonn (Autor:in)

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant tumour predisposition syndrome caused by germline mutations in mismatch repair (MMR) genes. In contrast to MLH1 and MSH2, germline mutations in MSH6 are associated with a milder and particularly variable phenotype. Based on the reported interaction of the MMR complex and the base excision repair protein MUTYH, it was hypothesised that MUTYH mutations serve as phenotypical modifiers in HNPCC families. Recently, a significantly higher frequency of heterozygosity for MUTYH mutations among MSH6 mutation carriers was reported. We examined 64 MSH6 mutation carriers (42 truncating mutations, 19 missense mutations and 3 silent mutations) of the German HNPCC Consortium for MUTYH mutations by sequencing the whole coding region of the gene. Monoallelic MUTYH mutations were identified in 2 of the 64 patients (3.1%), no biallelic MUTYH mutation carrier was found. The frequency of MUTYH mutations was not significantly higher than that in healthy controls, neither in the whole patient group (P = 0.30) nor in different subgroups regarding mutation type. Our results do not support the association between MSH6 mutations and heterozygosity for MUTYH mutations.

Details

OriginalspracheEnglisch
Seiten (von - bis)587-592
Seitenumfang6
FachzeitschriftEuropean journal of human genetics
Jahrgang16
Ausgabenummer5
PublikationsstatusVeröffentlicht - Mai 2008
Peer-Review-StatusJa

Externe IDs

PubMed 18301448

Schlagworte

Ziele für nachhaltige Entwicklung

ASJC Scopus Sachgebiete