Literature DB >> 27314638

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

Thomas G P Grünewald1, Olivier Delattre2.   

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.

Entities:  

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

Year:  2015        PMID: 27314638      PMCID: PMC4909413          DOI: 10.1080/23723556.2015.1086853

Source DB:  PubMed          Journal:  Mol Cell Oncol        ISSN: 2372-3556


  10 in total

1.  Systematic localization of common disease-associated variation in regulatory DNA.

Authors:  Matthew T Maurano; Richard Humbert; Eric Rynes; Robert E Thurman; Eric Haugen; Hao Wang; Alex P Reynolds; Richard Sandstrom; Hongzhu Qu; Jennifer Brody; Anthony Shafer; Fidencio Neri; Kristen Lee; Tanya Kutyavin; Sandra Stehling-Sun; Audra K Johnson; Theresa K Canfield; Erika Giste; Morgan Diegel; Daniel Bates; R Scott Hansen; Shane Neph; Peter J Sabo; Shelly Heimfeld; Antony Raubitschek; Steven Ziegler; Chris Cotsapas; Nona Sotoodehnia; Ian Glass; Shamil R Sunyaev; Rajinder Kaul; John A Stamatoyannopoulos
Journal:  Science       Date:  2012-09-05       Impact factor: 47.728

2.  Integrative genomics identifies LMO1 as a neuroblastoma oncogene.

Authors:  Kai Wang; Sharon J Diskin; Haitao Zhang; Edward F Attiyeh; Cynthia Winter; Cuiping Hou; Robert W Schnepp; Maura Diamond; Kristopher Bosse; Patrick A Mayes; Joseph Glessner; Cecilia Kim; Edward Frackelton; Maria Garris; Qun Wang; Wendy Glaberson; Rosetta Chiavacci; Le Nguyen; Jayanti Jagannathan; Norihisa Saeki; Hiroki Sasaki; Struan F A Grant; Achille Iolascon; Yael P Mosse; Kristina A Cole; Hongzhe Li; Marcella Devoto; Patrick W McGrady; Wendy B London; Mario Capasso; Nazneen Rahman; Hakon Hakonarson; John M Maris
Journal:  Nature       Date:  2010-12-01       Impact factor: 49.962

3.  Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations.

Authors:  Thomas F Eleveld; Derek A Oldridge; Virginie Bernard; Jan Koster; Léo Colmet Daage; Sharon J Diskin; Linda Schild; Nadia Bessoltane Bentahar; Angela Bellini; Mathieu Chicard; Eve Lapouble; Valérie Combaret; Patricia Legoix-Né; Jean Michon; Trevor J Pugh; Lori S Hart; JulieAnn Rader; Edward F Attiyeh; Jun S Wei; Shile Zhang; Arlene Naranjo; Julie M Gastier-Foster; Michael D Hogarty; Shahab Asgharzadeh; Malcolm A Smith; Jaime M Guidry Auvil; Thomas B K Watkins; Danny A Zwijnenburg; Marli E Ebus; Peter van Sluis; Anne Hakkert; Esther van Wezel; C Ellen van der Schoot; Ellen M Westerhout; Johannes H Schulte; Godelieve A Tytgat; M Emmy M Dolman; Isabelle Janoueix-Lerosey; Daniela S Gerhard; Huib N Caron; Olivier Delattre; Javed Khan; Rogier Versteeg; Gudrun Schleiermacher; Jan J Molenaar; John M Maris
Journal:  Nat Genet       Date:  2015-06-29       Impact factor: 38.330

4.  Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of alterations affecting a common genetic axis in fusion-positive and fusion-negative tumors.

Authors:  Jack F Shern; Li Chen; Juliann Chmielecki; Jun S Wei; Rajesh Patidar; Mara Rosenberg; Lauren Ambrogio; Daniel Auclair; Jianjun Wang; Young K Song; Catherine Tolman; Laura Hurd; Hongling Liao; Shile Zhang; Dominik Bogen; Andrew S Brohl; Sivasish Sindiri; Daniel Catchpoole; Thomas Badgett; Gad Getz; Jaume Mora; James R Anderson; Stephen X Skapek; Frederic G Barr; Matthew Meyerson; Douglas S Hawkins; Javed Khan
Journal:  Cancer Discov       Date:  2014-01-23       Impact factor: 39.397

5.  Microsatellites as EWS/FLI response elements in Ewing's sarcoma.

Authors:  Kunal Gangwal; Savita Sankar; Peter C Hollenhorst; Michelle Kinsey; Stephen C Haroldsen; Atul A Shah; Kenneth M Boucher; W Scott Watkins; Lynn B Jorde; Barbara J Graves; Stephen L Lessnick
Journal:  Proc Natl Acad Sci U S A       Date:  2008-07-14       Impact factor: 11.205

6.  Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite.

Authors:  Thomas G P Grünewald; Virginie Bernard; Pascale Gilardi-Hebenstreit; Virginie Raynal; Didier Surdez; Marie-Ming Aynaud; Olivier Mirabeau; Florencia Cidre-Aranaz; Franck Tirode; Sakina Zaidi; Gaëlle Perot; Anneliene H Jonker; Carlo Lucchesi; Marie-Cécile Le Deley; Odile Oberlin; Perrine Marec-Bérard; Amélie S Véron; Stephanie Reynaud; Eve Lapouble; Valentina Boeva; Thomas Rio Frio; Javier Alonso; Smita Bhatia; Gaëlle Pierron; Geraldine Cancel-Tassin; Olivier Cussenot; David G Cox; Lindsay M Morton; Mitchell J Machiela; Stephen J Chanock; Patrick Charnay; Olivier Delattre
Journal:  Nat Genet       Date:  2015-07-27       Impact factor: 38.330

7.  Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations.

Authors:  Franck Tirode; Didier Surdez; Xiaotu Ma; Matthew Parker; Marie Cécile Le Deley; Armita Bahrami; Zhaojie Zhang; Eve Lapouble; Sandrine Grossetête-Lalami; Michael Rusch; Stéphanie Reynaud; Thomas Rio-Frio; Erin Hedlund; Gang Wu; Xiang Chen; Gaelle Pierron; Odile Oberlin; Sakina Zaidi; Gordon Lemmon; Pankaj Gupta; Bhavin Vadodaria; John Easton; Marta Gut; Li Ding; Elaine R Mardis; Richard K Wilson; Sheila Shurtleff; Valérie Laurence; Jean Michon; Perrine Marec-Bérard; Ivo Gut; James Downing; Michael Dyer; Jinghui Zhang; Olivier Delattre
Journal:  Cancer Discov       Date:  2014-09-15       Impact factor: 39.397

8.  Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.

Authors:  Sophie Postel-Vinay; Amélie S Véron; Franck Tirode; Gaelle Pierron; Stéphanie Reynaud; Heinrich Kovar; Odile Oberlin; Eve Lapouble; Stelly Ballet; Carlo Lucchesi; Udo Kontny; Anna González-Neira; Piero Picci; Javier Alonso; Ana Patino-Garcia; Brigitte Bressac de Paillerets; Karine Laud; Christian Dina; Philippe Froguel; Françoise Clavel-Chapelon; Francois Doz; Jean Michon; Stephen J Chanock; Gilles Thomas; David G Cox; Olivier Delattre
Journal:  Nat Genet       Date:  2012-02-12       Impact factor: 38.330

9.  Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.

Authors:  Mario Capasso; Marcella Devoto; Cuiping Hou; Shahab Asgharzadeh; Joseph T Glessner; Edward F Attiyeh; Yael P Mosse; Cecilia Kim; Sharon J Diskin; Kristina A Cole; Kristopher Bosse; Maura Diamond; Marci Laudenslager; Cynthia Winter; Jonathan P Bradfield; Richard H Scott; Jayanti Jagannathan; Maria Garris; Carmel McConville; Wendy B London; Robert C Seeger; Struan F A Grant; Hongzhe Li; Nazneen Rahman; Eric Rappaport; Hakon Hakonarson; John M Maris
Journal:  Nat Genet       Date:  2009-05-03       Impact factor: 38.330

10.  The oncogenic EWS-FLI1 protein binds in vivo GGAA microsatellite sequences with potential transcriptional activation function.

Authors:  Noëlle Guillon; Franck Tirode; Valentina Boeva; Andrei Zynovyev; Emmanuel Barillot; Olivier Delattre
Journal:  PLoS One       Date:  2009-03-23       Impact factor: 3.240

  10 in total
  6 in total

1.  [Integrative molecular pathology of cancer].

Authors:  Thomas G P Grünewald
Journal:  Pathologe       Date:  2020-12       Impact factor: 1.011

Review 2.  [Functional genomics of Ewing sarcoma].

Authors:  T G P Grünewald
Journal:  Pathologe       Date:  2017-11       Impact factor: 1.011

Review 3.  Review: Ewing Sarcoma Predisposition.

Authors:  Pablo Gargallo; Yania Yáñez; Antonio Juan; Vanessa Segura; Julia Balaguer; Bárbara Torres; Silves Oltra; Victoria Castel; Adela Cañete
Journal:  Pathol Oncol Res       Date:  2019-10-26       Impact factor: 3.201

4.  Interactions between Germline and Somatic Mutated Genes in Aggressive Prostate Cancer.

Authors:  Tarun Karthik Kumar Mamidi; Jiande Wu; Chindo Hicks
Journal:  Prostate Cancer       Date:  2019-03-17

5.  Integrating germline and somatic variation information using genomic data for the discovery of biomarkers in prostate cancer.

Authors:  Tarun Karthik Kumar Mamidi; Jiande Wu; Chindo Hicks
Journal:  BMC Cancer       Date:  2019-03-14       Impact factor: 4.430

6.  Integrating Germline and Somatic Mutation Information for the Discovery of Biomarkers in Triple-Negative Breast Cancer.

Authors:  Jiande Wu; Tarun Karthik Kumar Mamidi; Lu Zhang; Chindo Hicks
Journal:  Int J Environ Res Public Health       Date:  2019-03-23       Impact factor: 3.390

  6 in total

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