APC mutations in colorectal tumors with mismatch repair deficiency.

  title={APC mutations in colorectal tumors with mismatch repair deficiency.},
  author={J Huang and Nick Papadopoulos and Aileen J McKinley and Susan M Farrington and Lucy J Curtis and Andrew H. Wyllie and Shu Zheng and James K. V. Willson and Sanford D Markowitz and Pierre Morin and Kenneth W. Kinzler and Bert Vogelstein and Malcolm G Dunlop},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  volume={93 17},
We have investigated the influence of genetic instability [replication error (RER) phenotype] on APC (adenomatous polyposis coli), a gene thought to initiate colorectal tumorigenesis. The prevalence of APC mutations was similar in RER and non-RER tumors, indicating that both tumor types share this step in neoplastic transformation. However, in a total of 101 sequenced mutations, we noted a substantial excess of APC frameshift mutations in the RER cases (70% in RER tumors versus 47% in non-RER… CONTINUE READING

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