Article
Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors.
Nature cancer - 1 Mar 2021
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
Abstract excerpt
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...
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