Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS)

@article{Horpaopan2017ExomeSC,
  title={Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS)},
  author={S. Horpaopan and J. Kirfel and S. Peters and M. Kloth and R. Hueneburg and J. Altm{\"u}ller and D. Drichel and M. Odenthal and G. Kristiansen and C. Strassburg and J. Nattermann and P. Hoffmann and P. N{\"u}rnberg and R. B{\"u}ttner and H. Thiele and P. Kahl and I. Spier and S. Aretz},
  journal={Hereditary Cancer in Clinical Practice},
  year={2017},
  volume={15}
}
BackgroundSerrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-CRC sequence (serrated pathway) of CRC formation has been postulated, however, to date only few molecular signatures of serrated neoplasia (BRAF, KRAS, RNF43 mutations, CpG Island Methylation, MSI) have been described in a subset of SPS patients and neither… Expand
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