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Functional characterization of the 9q34.13 locus identifies RAPGEF1 as modulating risk for melanoma and nevi via RAS activation.

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Title: Functional characterization of the 9q34.13 locus identifies RAPGEF1 as modulating risk for melanoma and nevi via RAS activation.
Authors: Thakur R; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Xu M; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Thornock AM; Stem Cell Program and Division of Hematology/Oncology, Boston Children's Hospital and Dana Farber Cancer Institute, Howard Hughes Medical Institute, Boston, MA, USA.; Stem Cell and Regenerative Biology Department, Harvard University, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Biological and Biomedical Sciences Program, Harvard Medical School, Boston, MA, USA., Yon J; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Anyaso-Samuel S; Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Lauss M; Division of Oncology, Department of Clinical Sciences, Faculty of Medicine, Lund University, Lund, 22185, Sweden.; Lund University Cancer Center, Lund, 22185, Sweden., Rehling T; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Bui-Raborn L; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Sowards H; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Duncan G; Protein Characterization Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD, USA., Jessop L; Laboratory of Genomic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Myers T; Laboratory of Genomic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Chari R; Genome Modification Core, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Long E; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.; Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing, 100005, China., Funderburk K; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Yin J; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Hennessey R; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Hseih E; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, USA., Levin H; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Machiela MJ; Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Zhang T; Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Jonsson G; Division of Oncology, Department of Clinical Sciences, Faculty of Medicine, Lund University, Lund, 22185, Sweden.; Lund University Cancer Center, Lund, 22185, Sweden., Bishop DT; Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK., Newton-Bishop J; Leeds Institute for Data Analytics, University of Leeds, Leeds, UK., Nsengimana J; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University and NIHR Biomedical Research Centre, Newcastle upon Tyne, UK., Iles MM; Leeds Institute for Data Analytics, University of Leeds, Leeds, UK.; NIHR Leeds Biomedical Research Centre, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Landi MT; Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Law MH; Population Health Department, QIMR Berghofer Medical Research Institute, Herston, QLD, Australia.; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, QLD, Australia.; School of Biomedical Sciences, University of Queensland, Brisbane, QLD, Australia., Andresson T; Protein Characterization Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD, USA., Choi J; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Zon LI; Stem Cell Program and Division of Hematology/Oncology, Boston Children's Hospital and Dana Farber Cancer Institute, Howard Hughes Medical Institute, Boston, MA, USA.; Stem Cell and Regenerative Biology Department, Harvard University, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Shi J; Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA., Brown KM; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Corporate Authors: Melanoma Meta-Analysis Consortium
Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Feb 08. Date of Electronic Publication: 2026 Feb 08.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Functional characterization of the 9q34.13 locus identifies RAPGEF1 as modulating risk for melanoma and nevi via RAS activation.
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  Data: <searchLink fieldCode="AU" term="%22Thakur+R%22">Thakur R</searchLink>; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Xu+M%22">Xu M</searchLink>; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Thornock+AM%22">Thornock AM</searchLink>; Stem Cell Program and Division of Hematology/Oncology, Boston Children's Hospital and Dana Farber Cancer Institute, Howard Hughes Medical Institute, Boston, MA, USA.; Stem Cell and Regenerative Biology Department, Harvard University, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Biological and Biomedical Sciences Program, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Yon+J%22">Yon J</searchLink>; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Anyaso-Samuel+S%22">Anyaso-Samuel S</searchLink>; Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Lauss+M%22">Lauss M</searchLink>; Division of Oncology, Department of Clinical Sciences, Faculty of Medicine, Lund University, Lund, 22185, Sweden.; Lund University Cancer Center, Lund, 22185, Sweden.<br /><searchLink fieldCode="AU" term="%22Rehling+T%22">Rehling T</searchLink>; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Bui-Raborn+L%22">Bui-Raborn L</searchLink>; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Sowards+H%22">Sowards H</searchLink>; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Duncan+G%22">Duncan G</searchLink>; 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Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Zhang+T%22">Zhang T</searchLink>; Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Jonsson+G%22">Jonsson G</searchLink>; Division of Oncology, Department of Clinical Sciences, Faculty of Medicine, Lund University, Lund, 22185, Sweden.; Lund University Cancer Center, Lund, 22185, Sweden.<br /><searchLink fieldCode="AU" term="%22Bishop+DT%22">Bishop DT</searchLink>; Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Newton-Bishop+J%22">Newton-Bishop J</searchLink>; Leeds Institute for Data Analytics, University of Leeds, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Nsengimana+J%22">Nsengimana J</searchLink>; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University and NIHR Biomedical Research Centre, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Iles+MM%22">Iles MM</searchLink>; Leeds Institute for Data Analytics, University of Leeds, Leeds, UK.; NIHR Leeds Biomedical Research Centre, Leeds Teaching Hospitals NHS Trust, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Landi+MT%22">Landi MT</searchLink>; Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Law+MH%22">Law MH</searchLink>; Population Health Department, QIMR Berghofer Medical Research Institute, Herston, QLD, Australia.; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, QLD, Australia.; School of Biomedical Sciences, University of Queensland, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Andresson+T%22">Andresson T</searchLink>; 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