Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

D. Williams Parsons; Angshumoy Roy; Yaping Yang; Tao Wang; Sarah Scollon; Katie Bergstrom; Robin A. Kerstein; Stephanie Gutierrez; Andrea Petersen; Abhishek Bavle; Frank Y. Lin; Dolores López‐Terrada; Federico A. Monzon; John Hicks; Karen W. Eldin; Norma Quintanilla; Adekunle M. Adesina; Carrie Mohila; William E. Whitehead; Andrew Jea; Sanjeev A. Vasudevan; Jed G. Nuchtern; Uma Ramamurthy; Amy L. McGuire; Susan G. Hilsenbeck; Jeffrey G. Reid; Donna M. Muzny; David A. Wheeler; Stacey L. Berg; Murali Chintagumpala; Christine M. Eng; Richard A. Gibbs; Sharon E. Plon

doi:10.1001/jamaoncol.2015.5699

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Abstract

Tumor and germline WES revealed mutations in a broad spectrum of genes previously implicated in both adult and pediatric cancers. Combined reporting of tumor and germline WES identified diagnostic and/or potentially actionable findings in nearly 40% of newly diagnosed pediatric patients with solid tumors.

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Parsons et al. (2016) studied this question.

synapsesocial.com/papers/69d8cf2717a1cc0598d18951 https://doi.org/10.1001/jamaoncol.2015.5699

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Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

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Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

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