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

  title={Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.},
  author={Anja Wagner and Yvonne M. C. Hendriks and Elizabeth J Meijers-Heijboer and Wiljo J F de Leeuw and Hans Morreau and Robert Hofstra and Carli M. J. Tops and Elsa C Bik and Annette H. J. T. Br{\"o}cker-Vriends and Cindy van der Meer and Dick Lindhout and Hans F. A. Vasen and Martijn H. Breuning and Cees J. Cornelisse and C. van Krimpen and Martinus F. Niermeijer and Aeilko H. Zwinderman and Juul Th Wijnen and Riccardo Fodde},
  journal={Journal of medical genetics},
  volume={38 5},
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 and MLH1. Recently, mutations in another MMR gene, MSH6 (also known as GTBP), have also been shown to result in HNPCC. Preliminary data indicate that the phenotype related to MSH6 mutations may differ from the classical HNPCC caused by defects in MSH2 and MLH1. Here, we… CONTINUE READING
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