Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.

@article{Stella2007GermlineNM,
  title={Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.},
  author={Alessandro Stella and Nicoletta Concetta Surdo and Patrizia Lastella and Daniela Barana and Cristina Oliani and Maria Grazia Tibiletti and Alessandra Viel and Clelia Natale and Adalgisa Piepoli and Giancarlo Marra and Ginevra Guanti},
  journal={Clinical genetics},
  year={2007},
  volume={71 2},
  pages={130-9}
}
Hereditary non-polyposis colorectal cancer (HNPCC) is caused by inactivating mutations of DNA mismatch repair genes. Large genomic rearrangements in these genes have been increasingly recognized as important causes of HNPCC. Using multiplex ligation-dependent probe amplification, we identified three MSH2 deletions in Italian patients with HNPCC (proband A: exons 1-3, proband M: exon 8, and proband C: exons 1-6). Deletion breakpoint sequencing allowed us to develop rapid polymerase chain… CONTINUE READING

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