Article
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Nature cancer - 1 Feb 2023
Villani Anita, Davidson Scott, Kanwar Nisha, Lo Winnie W, Li Yisu, Cohen-Gogo Sarah, Fuligni Fabio, Edward Lisa-Monique, Light Nicholas, Layeghifard Mehdi, Harripaul Ricardo, Waldman Larissa, Gallinger Bailey, Comitani Federico, Brunga Ledia, Hayes Reid, Anderson Nathaniel D, Ramani Arun K, Yuki Kyoko E, Blay Sasha, Johnstone Brittney, Inglese Cara, Hammad Rawan, Goudie Catherine, Shuen Andrew, Wasserman Jonathan D, Venier Rosemarie E, Eliou Marianne, Lorenti Miranda, Ryan Carol Ann, Braga Michael, Gloven-Brown Meagan, Han Jianan, Montero Maria, Spatare Famida, Whitlock James A, Scherer Stephen W, Chun Kathy, Somerville Martin J, Hawkins Cynthia, Abdelhaleem Mohamed, Ramaswamy Vijay, Somers Gino R, Kyriakopoulou Lianna, Hitzler Johann, Shago Mary, Morgenstern Daniel A, Tabori Uri, Meyn Stephen, Irwin Meredith S, Malkin David, Shlien Adam
Abstract excerpt
We conducted integrative somatic-germline analyses by deeply sequencing 864 cancer-associated genes, complete genomes and transcriptomes for 300 mostly previously treated children and adolescents/young adults with cancer of poor prognosis or with rare tumors enrolled in the SickKids Cancer Sequencing (KiCS) program. Clinically actionable variants were identified in 56% of patients. Improved diagnostic accuracy...
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