Article
Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes.
JAMA oncology - 1 Dec 2021
Goudie Catherine, Witkowski Leora, Cullinan Noelle, Reichman Lara, Schiller Ian, Tachdjian Melissa, Armstrong Linlea, Blood Katherine A, Brossard Josée, Brunga Ledia, Cacciotti Chantel, Caswell Kimberly, Cellot Sonia, Clark Mary Egan, Clinton Catherine, Coltin Hallie, Felton Kathleen, Fernandez Conrad V, Fleming Adam J, Fuentes-Bolanos Noemi, Gibson Paul, Grant Ronald, Hammad Rawan, Harrison Lynn W, Irwin Meredith S, Johnston Donna L, Kane Sarah, Lafay-Cousin Lucie, Lara-Corrales Irene, Larouche Valerie, Mathews Natalie, Meyn M Stephen, Michaeli Orli, Perrier Renée, Pike Meghan, Punnett Angela, Ramaswamy Vijay, Say Jemma, Somers Gino, Tabori Uri, Thibodeau My Linh, Toupin Annie-Kim, Tucker Katherine M, van Engelen Kalene, Vairy Stephanie, Waespe Nicolas, Warby Meera, Wasserman Jonathan D, Whitlock James A, Sinnett Daniel, Jabado Nada, Nathan Paul C, Shlien Adam, Kamihara Junne, Deyell Rebecca J, Ziegler David S, Nichols Kim E, Dendukuri Nandini, Malkin David, Villani Anita, Foulkes William D
Abstract excerpt
IMPORTANCE: Prompt recognition of a child with a cancer predisposition syndrome (CPS) has implications for cancer management, surveillance, genetic counseling, and cascade testing of relatives. Diagnosis of CPS requires practitioner expertise, access to genetic testing, and test result interpretation. This diagnostic process is not accessible in all institutions worldwide, leading to missed CPS diagnoses....
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