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TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.

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Title: TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.
Authors: de Andrade KC; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. kelvin.deandrade@nih.gov., Pinto EM; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Zhao T; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Zeigler LP; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Kim J; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Giri N; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Haley JS; Department of Genomic Health, Geisinger Clinic, Geisinger, Danville, PA, USA., McReynolds LJ; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Florez-Vargas O; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Phillips AH; Department of Structural Biology, St. Jude Children's Research Hospital, Memphis, TN, USA., Kriwacki RW; Department of Structural Biology, St. Jude Children's Research Hospital, Memphis, TN, USA., Akinniyi SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Cohen SB; Cell Biology Unit, Children's Medical Research Institute, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia., Emerson MR; Cell Biology Unit, Children's Medical Research Institute, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia., Smelser DT; Department of Genomic Health, Geisinger Clinic, Geisinger, Danville, PA, USA., Urban GM; Department of Genomic Health, Geisinger Clinic, Geisinger, Danville, PA, USA., Fridman C; Departamento de Medicina Legal, Bioética, Medicina do Trabalho e Medicina Física e Reabilitação, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Zambetti GP; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Bryan TM; Cell Biology Unit, Children's Medical Research Institute, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia., Carey DJ; Department of Genomic Health, Geisinger Clinic, Geisinger, Danville, PA, USA., Garcia CK; Division of Pulmonary and Critical Care Medicine, Columbia University, New York, NY, USA., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Source: NPJ genomic medicine [NPJ Genom Med] 2025 Jun 02; Vol. 10 (1), pp. 46. Date of Electronic Publication: 2025 Jun 02.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
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  Data: TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.
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  Data: <searchLink fieldCode="AU" term="%22de+Andrade+KC%22">de Andrade KC</searchLink>; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. kelvin.deandrade@nih.gov.<br /><searchLink fieldCode="AU" term="%22Pinto+EM%22">Pinto EM</searchLink>; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.<br /><searchLink fieldCode="AU" term="%22Zhao+T%22">Zhao T</searchLink>; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.<br /><searchLink fieldCode="AU" term="%22Zeigler+LP%22">Zeigler LP</searchLink>; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Giri+N%22">Giri N</searchLink>; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Haley+JS%22">Haley JS</searchLink>; Department of Genomic Health, Geisinger Clinic, Geisinger, Danville, PA, USA.<br /><searchLink fieldCode="AU" term="%22McReynolds+LJ%22">McReynolds LJ</searchLink>; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Florez-Vargas+O%22">Florez-Vargas O</searchLink>; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Phillips+AH%22">Phillips AH</searchLink>; Department of Structural Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.<br /><searchLink fieldCode="AU" term="%22Kriwacki+RW%22">Kriwacki RW</searchLink>; Department of Structural Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.<br /><searchLink fieldCode="AU" term="%22Akinniyi+SA%22">Akinniyi SA</searchLink>; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Cohen+SB%22">Cohen SB</searchLink>; Cell Biology Unit, Children's Medical Research Institute, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Emerson+MR%22">Emerson MR</searchLink>; Cell Biology Unit, Children's Medical Research Institute, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Smelser+DT%22">Smelser DT</searchLink>; Department of Genomic Health, Geisinger Clinic, Geisinger, Danville, PA, USA.<br /><searchLink fieldCode="AU" term="%22Urban+GM%22">Urban GM</searchLink>; Department of Genomic Health, Geisinger Clinic, Geisinger, Danville, PA, USA.<br /><searchLink fieldCode="AU" term="%22Fridman+C%22">Fridman C</searchLink>; Departamento de Medicina Legal, Bioética, Medicina do Trabalho e Medicina Física e Reabilitação, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Zambetti+GP%22">Zambetti GP</searchLink>; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.<br /><searchLink fieldCode="AU" term="%22Bryan+TM%22">Bryan TM</searchLink>; Cell Biology Unit, Children's Medical Research Institute, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Carey+DJ%22">Carey DJ</searchLink>; Department of Genomic Health, Geisinger Clinic, Geisinger, Danville, PA, USA.<br /><searchLink fieldCode="AU" term="%22Garcia+CK%22">Garcia CK</searchLink>; Division of Pulmonary and Critical Care Medicine, Columbia University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Stewart+DR%22">Stewart DR</searchLink>; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Savage+SA%22">Savage SA</searchLink>; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
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