Cooperation between somatic mutations and germline susceptibility variants in tumorigenesis - a dangerous liaison

Thomas G P Grünewald; Olivier Delattre

doi:10.1080/23723556.2015.1086853

Cooperation between somatic mutations and germline susceptibility variants in tumorigenesis - a dangerous liaison

Mol Cell Oncol. 2015 Oct 6;3(3):e1086853. doi: 10.1080/23723556.2015.1086853. eCollection 2016 May.

Authors

Thomas G P Grünewald¹, Olivier Delattre²

Affiliations

¹ Laboratory for Pediatric Sarcoma Biology, Institute of Pathology of the LMU Munich, Munich, Germany; Institut Curie, PSL Research University, "Genetics and Biology of Cancers" unit, Paris, France; INSERM U830, Institut Curie Research Center, Paris, France.
² Institut Curie, PSL Research University, "Genetics and Biology of Cancers" unit, Paris, France; INSERM U830, Institut Curie Research Center, Paris, France; Unité Génétique Somatique (UGS), Institut Curie Centre Hospitalier, Paris, France.

Abstract

High-throughput genotyping and sequencing generate comprehensive catalogs of inherited genetic variations and acquired somatic mutations. However, their possible interactions and roles in tumorigenesis remain largely unexplored. We recently reported cooperation between the EWSR1-FLI1 (Ewing sarcoma breakpoint region 1 - Friend leukemia virus integration 1) fusion oncogene and a germline variant that regulates the EGR2 (early growth response 2) Ewing sarcoma susceptibility gene via a GGAA-microsatellite.

Keywords: EGR2; EWSR1-FLI1; Ewing sarcoma; GGAA-microsatellite; germline susceptibility.

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