Predictive diagnosis of the cancer prone Li–Fraumeni syndrome by accident: new challenges through whole genome array testing

  title={Predictive diagnosis of the cancer prone Li–Fraumeni syndrome by accident: new challenges through whole genome array testing},
  author={T. Schwarzbraun and A. C. Obenauf and A. Langmann and U. Gruber-Sedlmayr and K. Wagner and M. Speicher and P. Kroisel},
  journal={Journal of Medical Genetics},
  pages={341 - 344}
  • T. Schwarzbraun, A. C. Obenauf, +4 authors P. Kroisel
  • Published 2009
  • Biology, Medicine
  • Journal of Medical Genetics
  • Background: Li–Fraumeni syndrome greatly increases the risk of developing several types of cancer and is usually caused by TP53 germline mutations. Predictive testing of at-risk family members is only offered after a complex genetic counselling process. Recently the clinical implementation of array comparative genomic hybridisation (CGH) has revolutionised the diagnosis of patients with syndromic or non-syndromic mental retardation and has evolved to a routinely performed high resolution whole… CONTINUE READING
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