Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding.
作者:
Olivia W,Lee [1]
;
Calvin,Rodrigues [2]
;
Shu-Hong,Lin [3]
;
Wen,Luo [4]
;
Kristine,Jones [4]
;
Derek W,Brown [3]
;
Weiyin,Zhou [4]
;
Eric,Karlins [4]
;
Sairah M,Khan [3]
;
Sylvain,Baulande [5]
;
Virginie,Raynal [5]
;
Didier,Surdez [6]
;
Stephanie,Reynaud [7]
;
Rebeca Alba,Rubio [8]
;
Sakina,Zaidi [2]
;
Sandrine,Grossetête [2]
;
Stelly,Ballet [7]
;
Eve,Lapouble [7]
;
Valérie,Laurence [9]
;
Gaelle,Pierron [7]
;
Nathalie,Gaspar [10]
;
Nadège,Corradini [11]
;
Perrine,Marec-Bérard [11]
;
Nathaniel,Rothman [3]
;
Casey L,Dagnall [4]
;
Laurie,Burdett [4]
;
Michelle,Manning [4]
;
Kathleen,Wyatt [4]
;
Meredith,Yeager [4]
;
Raj,Chari [12]
;
Wendy M,Leisenring [13]
;
Andreas E,Kulozik [14]
;
Jennifer,Kriebel [15]
;
Thomas,Meitinger [16]
;
Konstantin,Strauch [17]
;
Thomas,Kirchner [18]
;
Uta,Dirksen [19]
;
Lisa,Mirabello [3]
;
Margaret A,Tucker [3]
;
Franck,Tirode [2]
;
Gregory T,Armstrong [20]
;
Smita,Bhatia [21]
;
Leslie L,Robison [20]
;
Yutaka,Yasui [20]
;
Laura,Romero-Pérez [22]
;
Wolfgang,Hartmann [23]
;
Markus,Metzler [24]
;
W Ryan,Diver [25]
;
Adriana,Lori [25]
;
Neal D,Freedman [3]
;
Robert N,Hoover [3]
;
Lindsay M,Morton [3]
;
Stephen J,Chanock [3]
;
Thomas G P,Grünewald [26]
;
Olivier,Delattre [27]
;
Mitchell J,Machiela [28]
作者单位:
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
[1]
Inserm U830, PSL Université, Research Center, Institut Curie, 75005 Paris, France; SIREDO Oncology Centre, Institut Curie, 75005 Paris, France.
[2]
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
[3]
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD 21701, USA.
[4]
ICGex Next-Generation Sequencing Platform, PSL Université, Research Center, Institut Curie, 75005 Paris, France.
[5]
Inserm U830, PSL Université, Research Center, Institut Curie, 75005 Paris, France; SIREDO Oncology Centre, Institut Curie, 75005 Paris, France; Balgrist University Hospital, Faculty of Medicine, University of Zurich (UZH), Zurich, Switzerland.
[6]
SIREDO Oncology Centre, Institut Curie, 75005 Paris, France; Unité de Génétique Somatique, Department of Genetics, Institut Curie Hospital, 75005 Paris, France.
[7]
Max-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, 80337 Munich, Germany.
[8]
SIREDO Oncology Centre, Institut Curie, 75005 Paris, France.
[9]
Department of Oncology for Child and Adolescent, Institut Gustave Roussy, 94800 Villejuif, France.
[10]
Institute for Paediatric Haematology and Oncology, Leon Bérard Cancer Centre, University of Lyon, 69008 Lyon, France.
[11]
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA; Genome Modification Core Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD 21701, USA.
[12]
Cancer Prevention and Clinical Statistics Programs, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
[13]
University Children's Hospital of Heidelberg, 69120 Heidelberg, Germany.
[14]
Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; German Center for Diabetes Research (DZD), 85764 München-Neuherberg, Germany.
[15]
Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 80333 Munich, Germany.
[16]
Institute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Chair of Genetic Epidemiology, IBE, Faculty of Medicine, LMU, 80539 Munich, Germany.
[17]
Division of Translational Pediatric Sarcoma Research, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), 69120 Heidelberg, Germany; Hopp-Children's Cancer Center (KiTZ), Heidelberg, Germany; Institute of Pathology, Faculty of Medicine, LMU, 80337 Munich, Germany.
[18]
University Children's Hospital of Essen, 45147 Essen, Germany.
[19]
Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
[20]
Institute for Cancer Outcomes and Survivorship, University of Alabama, Birmingham, AL 35294, USA.
[21]
Max-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, 80337 Munich, Germany; Division of Translational Pediatric Sarcoma Research, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), 69120 Heidelberg, Germany; Hopp-Children's Cancer Center (KiTZ), Heidelberg, Germany.
[22]
Gerhard- Domagk Institute of Pathology, University Hospital of Münster, 48149 Münster, Germany.
[23]
University Children's Hospital of Erlangen, 91054 Erlangen, Germany.
[24]
Department of Population Science, American Cancer Society, Atlanta, GA, USA.
[25]
Max-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, 80337 Munich, Germany; Division of Translational Pediatric Sarcoma Research, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), 69120 Heidelberg, Germany; Hopp-Children's Cancer Center (KiTZ), Heidelberg, Germany; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
[26]
Inserm U830, PSL Université, Research Center, Institut Curie, 75005 Paris, France; SIREDO Oncology Centre, Institut Curie, 75005 Paris, France. Electronic address: olivier.delattre@curie.fr.
[27]
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA. Electronic address: mitchell.machiela@nih.gov.
[28]
主题词
人类(Humans);等位基因(Alleles);骨肿瘤(Bone Neoplasms);细胞系, 肿瘤(Cell Line, Tumor);基因表达调控, 肿瘤(Gene Expression Regulation, Neoplastic);癌基因蛋白质类, 融合(Oncogene Proteins, Fusion);原癌基因蛋白质c-fli-1(Proto-Oncogene Protein c-fli-1);RNA结合蛋白质EWS(RNA-Binding Protein EWS)
DOI
10.1016/j.ajhg.2023.01.017
PMID
36787739
发布时间
2023-09-03
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American journal of human genetics
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