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Germline Variation and Somatic Alterations in Ewing Sarcoma

Protocol
First Online:
Part of the Methods in Molecular Biology book series (MIMB, volume 2226)

Abstract

Ewing sarcoma (EwS) is a rare bone or soft tissue tumor that occurs early in life and as such genetic variation is a major contributor to EwS risk. To date, genetic investigations have identified key somatic mutations and germline variants of importance for EwS risk. While substantial progress is being made in uncovering the genetic etiology of EwS, considerable gaps in knowledge remain. Herein, we provide a summary of methodological approaches for future genomic investigations of EwS. We anticipate this recommended analytical framework for germline and somatic investigations, along with genomic data from growing EwS case series, will aid in accelerating new genomic discoveries in EwS and expand knowledge of the genetic architecture of EwS.

Key words

Ewing sarcoma EWSR1-FLI1 Genetics Germline variants SNPs Somatic mutations Translocation 
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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2021

Authors and Affiliations

  1. 1.Division of Cancer Epidemiology and GeneticsNational Cancer InstituteBethesdaUSA
  2. 2.Division of Translational Pediatric Sarcoma Research, German Cancer Research Center (DKFZ)Hopp Children’s Cancer Center (KiTZ)HeidelbergGermany

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