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Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole-genome array testing
  1. Thomas Schwarzbraun
  1. Medical University of Graz, Austria
    1. Anna Obenauf
    1. Medical University of Graz, Austria
      1. Andrea Langmann
      1. Medical University of Graz, Austria
        1. Ursula Gruber-Sedlmayr
        1. Medical University of Graz, Austria
          1. Klaus Wagner
          1. Medical University of Graz, Austria
            1. Michael Speicher (michael.speicher{at}medunigraz.at)
            1. Medical University of Graz, Austria
              1. Peter Kroisel
              1. Medical University of Graz, Austria

                Abstract

                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 counseling process. Recently the clinical implementation of array comparative genomic hybridization (CGH) has revolutionized the diagnosis of patients with syndromic or nonsyndromic mental retardation and has evolved to a routinely performed high-resolution whole-genome scan. When using array-CGH to identify the cause for mental retardation in a seven-year-old child we found a submicroscopic de novo deletion of chromosome 17p13.1, which includes several genes likely to be causative for her phenotype, and also of TP53. Thus, array-CGH resulted in an unintended predictive diagnosis of an increased tumor susceptibility as observed in Li-Fraumeni syndrome.

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