Article
Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding.
American journal of human genetics - 2 Mar 2023
Lee Olivia W, Rodrigues Calvin, Lin Shu-Hong, Luo Wen, Jones Kristine, Brown Derek W, Zhou Weiyin, Karlins Eric, Khan Sairah M, Baulande Sylvain, Raynal Virginie, Surdez Didier, Reynaud Stephanie, Rubio Rebeca Alba, Zaidi Sakina, Grossetête Sandrine, Ballet Stelly, Lapouble Eve, Laurence Valérie, Pierron Gaelle, Gaspar Nathalie, Corradini Nadège, Marec-Bérard Perrine, Rothman Nathaniel, Dagnall Casey L, Burdett Laurie, Manning Michelle, Wyatt Kathleen, Yeager Meredith, Chari Raj, Leisenring Wendy M, Kulozik Andreas E, Kriebel Jennifer, Meitinger Thomas, Strauch Konstantin, Kirchner Thomas, Dirksen Uta, Mirabello Lisa, Tucker Margaret A, Tirode Franck, Armstrong Gregory T, Bhatia Smita, Robison Leslie L, Yasui Yutaka, Romero-Pérez Laura, Hartmann Wolfgang, Metzler Markus, Diver W Ryan, Lori Adriana, Freedman Neal D, Hoover Robert N, Morton Lindsay M, Chanock Stephen J, Grünewald Thomas G P, Delattre Olivier, Machiela Mitchell J
Abstract excerpt
Ewing sarcoma (EwS) is a rare bone and soft tissue malignancy driven by chromosomal translocations encoding chimeric transcription factors, such as EWSR1-FLI1, that bind GGAA motifs forming novel enhancers that alter nearby expression. We propose that germline microsatellite variation at the 6p25.1 EwS susceptibility locus could impact downstream gene expression and EwS biology. We performed targeted long-read...
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