Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

@article{Wagner2003MolecularAO,
  title={Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.},
  author={Anja Wagner and A. P. W. Barrows and Juul Th Wijnen and Heleen van der Klift and Patrick F. Franken and Paul J J H Verkuijlen and Hidewaki Nakagawa and Marjan Geugien and Shantie Jaghmohan-Changur and Cor Breukel and Hanne Meijers-Heijboer and Hans Morreau and Marjo van Puijenbroek and John Burn and Stephany Coronel and Yulia Kinarski and Ross A. Okimoto and Patrice Watson and Jane F. Lynch and Albert de la Chapelle and Henry T. Lynch and Riccardo Fodde},
  journal={American journal of human genetics},
  year={2003},
  volume={72 5},
  pages={1088-100}
}
The identification of germline mutations in families with HNPCC is hampered by genetic heterogeneity and clinical variability. In previous studies, MSH2 and MLH1 mutations were found in approximately two-thirds of the Amsterdam-criteria-positive families and in much lower percentages of the Amsterdam-criteria-negative families. Therefore, a considerable proportion of HNPCC seems not to be accounted for by the major mismatch repair (MMR) genes. Does the latter result from a lack of sensitivity… CONTINUE READING

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