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Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene.

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Title: Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene.
Authors: Oak N; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN., Chen W; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN.; Division of Computational Biology, Mayo Clinic, Rochester, MN., Blake A; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN., Harrison L; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN., O'Brien M; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany., Previti C; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany., Balasubramanian G; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany., Maass K; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany., Hirsch S; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Department of Human Genetics, Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany., Penkert J; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Jones BC; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.; Division of Pediatric Glioma Research, German Cancer Research Center (DKFZ), Heidelberg, Germany., Schramm K; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany., Nathrath M; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Pajtler KW; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany., Jones DTW; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.; Division of Pediatric Glioma Research, German Cancer Research Center (DKFZ), Heidelberg, Germany., Witt O; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.; National Center for Tumor Diseases (NCT) Heidelberg, Germany.; CCU Pediatric Oncol, German Cancer Research Center (DKFZ), Heidelberg, Germany., Dirksen U; Pediatrics III, West German Cancer Center University Hospital Essen, Essen, Germany.; German Cancer Consortium (DKTK) site Essen, Germany.; National Center for Tumor diseases (NCT)site Essen, Germany., Li J; Department of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Sapkota Y; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN., Ness KK; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN., Guenther LM; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN., Pfister SM; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany., Kratz C; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Wang Z; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN.; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN., Armstrong GT; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN., Hudson MM; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN.; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN., Wu G; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN.; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN., Autry RJ; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany., Nichols KE; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN., Sharma R; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Jun 04. Date of Electronic Publication: 2025 Jun 04.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene.
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  Data: <searchLink fieldCode="AU" term="%22Oak+N%22">Oak N</searchLink>; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN.<br /><searchLink fieldCode="AU" term="%22Chen+W%22">Chen W</searchLink>; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN.; Division of Computational Biology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Blake+A%22">Blake A</searchLink>; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN.<br /><searchLink fieldCode="AU" term="%22Harrison+L%22">Harrison L</searchLink>; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN.<br /><searchLink fieldCode="AU" term="%22O'Brien+M%22">O'Brien M</searchLink>; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Previti+C%22">Previti C</searchLink>; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Balasubramanian+G%22">Balasubramanian G</searchLink>; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Maass+K%22">Maass K</searchLink>; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Hirsch+S%22">Hirsch S</searchLink>; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Department of Human Genetics, Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Penkert+J%22">Penkert J</searchLink>; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.; Department of Human Genetics, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Jones+BC%22">Jones BC</searchLink>; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.; Division of Pediatric Glioma Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Schramm+K%22">Schramm K</searchLink>; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Nathrath+M%22">Nathrath M</searchLink>; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.; Department of Human Genetics, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Pajtler+KW%22">Pajtler KW</searchLink>; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Jones+DTW%22">Jones DTW</searchLink>; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.; Division of Pediatric Glioma Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Witt+O%22">Witt O</searchLink>; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.; National Center for Tumor Diseases (NCT) Heidelberg, Germany.; CCU Pediatric Oncol, German Cancer Research Center (DKFZ), Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Dirksen+U%22">Dirksen U</searchLink>; Pediatrics III, West German Cancer Center University Hospital Essen, Essen, Germany.; German Cancer Consortium (DKTK) site Essen, Germany.; National Center for Tumor diseases (NCT)site Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Li+J%22">Li J</searchLink>; Department of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.<br /><searchLink fieldCode="AU" term="%22Sapkota+Y%22">Sapkota Y</searchLink>; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN.<br /><searchLink fieldCode="AU" term="%22Ness+KK%22">Ness KK</searchLink>; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN.<br /><searchLink fieldCode="AU" term="%22Guenther+LM%22">Guenther LM</searchLink>; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN.<br /><searchLink fieldCode="AU" term="%22Pfister+SM%22">Pfister SM</searchLink>; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Kratz+C%22">Kratz C</searchLink>; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Wang+Z%22">Wang Z</searchLink>; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN.; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN.<br /><searchLink fieldCode="AU" term="%22Armstrong+GT%22">Armstrong GT</searchLink>; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN.<br /><searchLink fieldCode="AU" term="%22Hudson+MM%22">Hudson MM</searchLink>; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN.; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN.<br /><searchLink fieldCode="AU" term="%22Wu+G%22">Wu G</searchLink>; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN.; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN.<br /><searchLink fieldCode="AU" term="%22Autry+RJ%22">Autry RJ</searchLink>; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Nichols+KE%22">Nichols KE</searchLink>; Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN.<br /><searchLink fieldCode="AU" term="%22Sharma+R%22">Sharma R</searchLink>; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN.
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