LETTERS TO JMG

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

T Schwarzbraun¹, A C Obenauf¹, A Langmann², U Gruber-Sedlmayr³, K Wagner¹, M R Speicher¹, P M Kroisel¹

¹ Institute of Human Genetics, Medical University of Graz, Graz, Austria
² Department of Ophthalmology, Medical University of Graz, Graz, Austria
³ Department of Neuropediatrics, Medical University of Graz, Austria

Professor M R Speicher, Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, A-8010 Graz, Austria; michael.speicher{at}medunigraz.at

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 genome scan.

Methods and results: When using array CGH to identify the cause for mental retardation in a 7-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.

Conclusion: Thus, array CGH resulted in an unintended predictive diagnosis of an increased tumour susceptibility as observed in Li–Fraumeni syndrome.

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This article has been cited by other articles:

• Liu, Z., Obenauf, A. C., Speicher, M. R., Kopan, R. (2009). Rapid identification of homologous recombinants and determination of gene copy number with reference/query pyrosequencing (RQPS). Genome Res 19: 2081-2089 [Abstract] [Full Text]  
• Netzer, C, Klein, C, Kohlhase, J, Kubisch, C (2009). New challenges for informed consent through whole genome array testing. J. Med. Genet. 46: 495-496 [Full Text]  

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New challenges for informed consent through whole-genome array testing

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J Med Genet, 20 Apr 2009 [Full text]