High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.

@article{Chong2009HighFO,
  title={High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.},
  author={George C. Chong and Jonathan Jarry and Victoria A. Marcus and Isabelle Thiffault and Sebastian Winocour and Yury Monczak and R{\'e}gen Drouin and J. Phillipe Latreille and Karlene Australie and Bharati Bapat and Philip H. Gordon and Yves Gigu{\`e}re and Adrian Gologan and Polymnia Galiatsatos and Jeremy R. Jass and Nora Wong and Sonya Zaor and Laura Marrero Palma and Lidia Kasprzak and Marc Tischkowitz and William D Foulkes},
  journal={Human mutation},
  year={2009},
  volume={30 8},
  pages={
          E797-812
        }
}
Lynch syndrome is one of the most common autosomal dominantly inherited cancer syndromes. Mutations in MLH1, MSH2, MSH6, and PMS2 account for greater than 98% of reported mutations in Lynch syndrome families. It has been reported that large genomic deletions in MLH1 and MSH2 are a frequent cause of Lynch syndrome in certain populations. Using a multimodal approach, we have identified mutations in MLH1, MSH2, and MSH6 in French Canadian families fulfilling the Amsterdam criteria for Lynch… CONTINUE READING

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