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Clinical criteria for genetic testing in pediatric oncology show a low specificity and miss every 4th child carrying a cancer predisposition

2022-10-22 genetic and genomic medicine Title + abstract only
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Clinical checklists are the current gold standard to determine whether a child with cancer shows indications for genetic testing. Nevertheless, the efficacy of these tests to reliably detect genetic cancer predisposition in children with cancer is still insufficiently investigated. Here, we assessed the validity of clinically recognizable signs to identify cancer predisposition by correlating a state-of-the-art clinical checklist to the corresponding whole exome sequencing analysis in an unselec...

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