- Fiala, Elise M;
- Jayakumaran, Gowtham;
- Mauguen, Audrey;
- Kennedy, Jennifer A;
- Bouvier, Nancy;
- Kemel, Yelena;
- Fleischut, Megan Harlan;
- Maio, Anna;
- Salo-Mullen, Erin E;
- Sheehan, Margaret;
- Arnold, Angela G;
- Latham, Alicia;
- Carlo, Maria I;
- Cadoo, Karen;
- Murkherjee, Semanti;
- Slotkin, Emily K;
- Trippett, Tanya;
- Glade Bender, Julia;
- Meyers, Paul A;
- Wexler, Leonard;
- Dela Cruz, Filemon S;
- Cheung, Nai-Kong;
- Basu, Ellen;
- Kentsis, Alex;
- Ortiz, Michael;
- Francis, Jasmine H;
- Dunkel, Ira J;
- Khakoo, Yasmin;
- Gilheeney, Stephen;
- Farouk Sait, Sameer;
- Forlenza, Christopher J;
- Sulis, Maria;
- Karajannis, Matthias;
- Modak, Shakeel;
- Gerstle, Justin T;
- Heaton, Todd E;
- Roberts, Stephen;
- Yang, Ciyu;
- Jairam, Sowmya;
- Vijai, Joseph;
- Topka, Sabine;
- Friedman, Danielle N;
- Stadler, Zsofia K;
- Robson, Mark;
- Berger, Michael F;
- Schultz, Nikolaus;
- Ladanyi, Marc;
- O’Reilly, Richard J;
- Abramson, David H;
- Ceyhan-Birsoy, Ozge;
- Zhang, Liying;
- Mandelker, Diana;
- Shukla, Neerav N;
- Kung, Andrew L;
- Offit, Kenneth;
- Zehir, Ahmet;
- Walsh, Michael F
The spectrum of germline predisposition in pediatric cancer continues to be realized. Here we report 751 solid tumor patients who underwent prospective matched tumor-normal DNA sequencing and downstream clinical use (clinicaltrials.gov NCT01775072). Germline pathogenic and likely pathogenic (P/LP) variants were reported. One or more P/LP variants were found in 18% (138/751) of individuals when including variants in low, moderate, and high penetrance dominant or recessive genes, or 13% (99/751) in moderate and high penetrance dominant genes. 34% of high or moderate penetrance variants were unexpected based on the patient's diagnosis and previous history. 76% of patients with positive results completed a clinical genetics visit, and 21% had at least one relative undergo cascade testing as a result of this testing. Clinical actionability additionally included screening, risk reduction in relatives, reproductive use, and use of targeted therapies. Germline testing should be considered for all children with cancer.