Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

@article{Wagner2001AtypicalHO,
  title={Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree},
  author={Andreas Wagner and Y. Hendriks and Elizabeth J Meijers-Heijboer and Wiljo J F de Leeuw and Hans Morreau and Robert M. W. Hofstra and Carli M J Tops and E Bik and Annette Br{\"o}cker-Vriends and C van der Meer and Dick Lindhout and Hans F A Vasen and Martijn H. Breuning and Cees J. Cornelisse and Cees van Krimpen and Martinus F. Niermeijer and Aeilko H. Zwinderman and Juul Th Wijnen and Ricardo Fodde},
  journal={Journal of Medical Genetics},
  year={2001},
  volume={38},
  pages={318 - 322}
}
  • Andreas Wagner, Y. Hendriks, +16 authors Ricardo Fodde
  • Published 2001
  • Medicine, Biology
  • Journal of Medical Genetics
  • Hereditary non-polyposis colorectal cancer (HNPCC) is the most common genetic susceptibility syndrome for colorectal cancer. HNPCC is most frequently caused by germline mutations in the DNA mismatch repair (MMR) genes MSH2 andMLH1. Recently, mutations in another MMR gene, MSH6 (also known asGTBP), have also been shown to result in HNPCC. Preliminary data indicate that the phenotype related toMSH6 mutations may differ from the classical HNPCC caused by defects in MSH2 andMLH1.  Here, we describe… CONTINUE READING

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