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Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

23 Jan 2019

Abstract excerpt

In a considerable number of patients with a suspected hereditary tumor syndrome (HTS), no underlying germline mutation is detected in the most likely affected genes. The present study aimed to establish and validate a large gene panel for HTS, and determine its diagnostic yield and clinical utility. The study cohort comprised 173 patients with suspected, but unexplained, HTS (group U) and 64 HTS patients with a...

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PMID: 30680046
DOI: 10.1186/s13053-018-0102-4

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