Article
Germline Mutations in Predisposition Genes in Pediatric Cancer.
The New England journal of medicine - 10 Dec 2015
Zhang Jinghui, Walsh Michael F, Wu Gang, Edmonson Michael N, Gruber Tanja A, Easton John, Hedges Dale, Ma Xiaotu, Zhou Xin, Yergeau Donald A, Wilkinson Mark R, Vadodaria Bhavin, Chen Xiang, McGee Rose B, Hines-Dowell Stacy, Nuccio Regina, Quinn Emily, Shurtleff Sheila A, Rusch Michael, Patel Aman, Becksfort Jared B, Wang Shuoguo, Weaver Meaghann S, Ding Li, Mardis Elaine R, Wilson Richard K, Gajjar Amar, Ellison David W, Pappo Alberto S, Pui Ching-Hon, Nichols Kim E, Downing James R
Abstract excerpt
BACKGROUND: The prevalence and spectrum of predisposing mutations among children and adolescents with cancer are largely unknown. Knowledge of such mutations may improve the understanding of tumorigenesis, direct patient care, and enable genetic counseling of patients and families. METHODS: In 1120 patients younger than 20 years of age, we sequenced the whole genomes (in 595 patients), whole exomes (in 456), or...
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