Article
Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.
Journal of medical genetics - 1 May 2009
Schwarzbraun T, Obenauf A C, Langmann A, Gruber-Sedlmayr U, Wagner K, Speicher M R, Kroisel P M
Abstract excerpt
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...
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