Germline data have become widely available in paediatric oncology since the introduction of paired tumour-germline sequencing. To guide best practice in cancer predisposition syndrome (CPS) diagnostics, we aimed to assess the diagnostic yield of extensive germline analysis compared with clinical selection-based genetic testing among all children with cancer.

中文翻译：

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基于临床选择的基因检测与表型不可知的广泛种系测序在诊断癌症儿童遗传易感性方面的比较：一项前瞻性诊断研究


自从引入配对肿瘤-种系测序以来，种系数据已在儿科肿瘤学中广泛使用。为了指导癌症易感综合症（CPS）诊断的最佳实践，我们旨在评估所有癌症儿童中广泛种系分析与基于临床选择的基因检测的诊断率。