Article
Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma.
PloS one - 1 Jan 2020
Lin Shu-Hong, Sampson Joshua N, Grünewald Thomas G P, Surdez Didier, Reynaud Stephanie, Mirabeau Olivier, Karlins Eric, Rubio Rebeca Alba, Zaidi Sakina, Grossetête-Lalami Sandrine, Ballet Stelly, Lapouble Eve, Laurence Valérie, Michon Jean, Pierron Gaelle, Kovar Heinrich, Kontny Udo, González-Neira Anna, Alonso Javier, Patino-Garcia Ana, Corradini Nadège, Bérard Perrine Marec, Miller Jeremy, Freedman Neal D, Rothman Nathaniel, Carter Brian D, Dagnall Casey L, Burdett Laurie, Jones Kristine, Manning Michelle, Wyatt Kathleen, Zhou Weiyin, Yeager Meredith, Cox David G, Hoover Robert N, Khan Javed, Armstrong Gregory T, Leisenring Wendy M, Bhatia Smita, Robison Leslie L, Kulozik Andreas E, Kriebel Jennifer, Meitinger Thomas, Metzler Markus, Krumbholz Manuela, Hartmann Wolfgang, Strauch Konstantin, Kirchner Thomas, Dirksen Uta, Mirabello Lisa, Tucker Margaret A, Tirode Franck, Morton Lindsay M, Chanock Stephen J, Delattre Olivier, Machiela Mitchell J
Abstract excerpt
BACKGROUND: Ewing sarcoma (EwS) is a rare, aggressive solid tumor of childhood, adolescence and young adulthood associated with pathognomonic EWSR1-ETS fusion oncoproteins altering transcriptional regulation. Genome-wide association studies (GWAS) have identified 6 common germline susceptibility loci but have not investigated low-frequency inherited variants with minor allele frequencies below 5% due to limited...
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