Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
Identifieur interne : 003937 ( Pmc/Curation ); précédent : 003936; suivant : 003938Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
Auteurs : Michael Y. Zhang [États-Unis] ; Jane E. Churpek [États-Unis] ; Siobán B. Keel [États-Unis] ; Tom Walsh [États-Unis] ; Ming K. Lee [États-Unis] ; Keith R. Loeb [États-Unis] ; Suleyman Gulsuner [États-Unis] ; Colin C. Pritchard [États-Unis] ; Marilyn Sanchez-Bonilla [États-Unis] ; Jeffrey J. Delrow [États-Unis] ; Ryan S. Basom [États-Unis] ; Melissa Forouhar [États-Unis] ; Boglarka Gyurkocza [États-Unis] ; Bradford S. Schwartz [États-Unis] ; Barbara Neistadt [États-Unis] ; Rafael Marquez [États-Unis] ; Christopher J. Mariani [États-Unis] ; Scott A. Coats [États-Unis] ; Inga Hofmann [États-Unis] ; R Coleman Lindsley [États-Unis] ; David A. Williams [États-Unis] ; Janis L. Abkowitz [États-Unis] ; Marshall S. Horwitz [États-Unis] ; Mary-Claire King [États-Unis] ; Lucy A. Godley [États-Unis] ; Akiko Shimamura [États-Unis]Source :
- Nature genetics [ 1061-4036 ] ; 2015.
Abstract
We report germline missense mutations in
Url:
DOI: 10.1038/ng.3177
PubMed: 25581430
PubMed Central: 4540357
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Churpek</name><affiliation wicri:level="1"><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Comprehensive Cancer Center, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation></author><author><name sortKey="Keel, Sioban B" sort="Keel, Sioban B" uniqKey="Keel S" first="Siobán B" last="Keel">Siobán B. 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Loeb</name><affiliation wicri:level="1"><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A7">Department of Pathology, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Gulsuner, Suleyman" sort="Gulsuner, Suleyman" uniqKey="Gulsuner S" first="Suleyman" last="Gulsuner">Suleyman Gulsuner</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Pritchard, Colin C" sort="Pritchard, Colin C" uniqKey="Pritchard C" first="Colin C" last="Pritchard">Colin C. Pritchard</name><affiliation wicri:level="1"><nlm:aff id="A8">Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Laboratory Medicine, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Sanchez Bonilla, Marilyn" sort="Sanchez Bonilla, Marilyn" uniqKey="Sanchez Bonilla M" first="Marilyn" last="Sanchez-Bonilla">Marilyn Sanchez-Bonilla</name><affiliation wicri:level="1"><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Delrow, Jeffrey J" sort="Delrow, Jeffrey J" uniqKey="Delrow J" first="Jeffrey J" last="Delrow">Jeffrey J. Delrow</name><affiliation wicri:level="1"><nlm:aff id="A9">Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Basom, Ryan S" sort="Basom, Ryan S" uniqKey="Basom R" first="Ryan S" last="Basom">Ryan S. Basom</name><affiliation wicri:level="1"><nlm:aff id="A9">Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Forouhar, Melissa" sort="Forouhar, Melissa" uniqKey="Forouhar M" first="Melissa" last="Forouhar">Melissa Forouhar</name><affiliation wicri:level="1"><nlm:aff id="A10">Pediatric Hematology Oncology, Madigan Army Medical Center, Tacoma, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Pediatric Hematology Oncology, Madigan Army Medical Center, Tacoma, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Gyurkocza, Boglarka" sort="Gyurkocza, Boglarka" uniqKey="Gyurkocza B" first="Boglarka" last="Gyurkocza">Boglarka Gyurkocza</name><affiliation wicri:level="1"><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Schwartz, Bradford S" sort="Schwartz, Bradford S" uniqKey="Schwartz B" first="Bradford S" last="Schwartz">Bradford S. Schwartz</name><affiliation wicri:level="1"><nlm:aff id="A11">Morgridge Institute for Research, University of Wisconsin, Madison, Wisconsin, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Morgridge Institute for Research, University of Wisconsin, Madison, Wisconsin</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">Departments of Medicine and Biomolecular Chemistry, University of Wisconsin, Madison, Wisconsin, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Medicine and Biomolecular Chemistry, University of Wisconsin, Madison, Wisconsin</wicri:regionArea></affiliation></author><author><name sortKey="Neistadt, Barbara" sort="Neistadt, Barbara" uniqKey="Neistadt B" first="Barbara" last="Neistadt">Barbara Neistadt</name><affiliation wicri:level="1"><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Comprehensive Cancer Center, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation></author><author><name sortKey="Marquez, Rafael" sort="Marquez, Rafael" uniqKey="Marquez R" first="Rafael" last="Marquez">Rafael Marquez</name><affiliation wicri:level="1"><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Comprehensive Cancer Center, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation></author><author><name sortKey="Mariani, Christopher J" sort="Mariani, Christopher J" uniqKey="Mariani C" first="Christopher J" last="Mariani">Christopher J. Mariani</name><affiliation wicri:level="1"><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Comprehensive Cancer Center, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation></author><author><name sortKey="Coats, Scott A" sort="Coats, Scott A" uniqKey="Coats S" first="Scott A" last="Coats">Scott A. Coats</name><affiliation wicri:level="1"><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Hofmann, Inga" sort="Hofmann, Inga" uniqKey="Hofmann I" first="Inga" last="Hofmann">Inga Hofmann</name><affiliation wicri:level="1"><nlm:aff id="A13">Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A15">Harvard Stem Cell Institute, Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard Stem Cell Institute, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Lindsley, R Coleman" sort="Lindsley, R Coleman" uniqKey="Lindsley R" first="R Coleman" last="Lindsley">R Coleman Lindsley</name><affiliation wicri:level="1"><nlm:aff id="A16">Division of Hematology, Brigham and Women’s Hospital, Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Hematology, Brigham and Women’s Hospital, Boston, Massachusetts</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A17">Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Williams, David A" sort="Williams, David A" uniqKey="Williams D" first="David A" last="Williams">David A. Williams</name><affiliation wicri:level="1"><nlm:aff id="A13">Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A15">Harvard Stem Cell Institute, Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard Stem Cell Institute, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Abkowitz, Janis L" sort="Abkowitz, Janis L" uniqKey="Abkowitz J" first="Janis L" last="Abkowitz">Janis L. Abkowitz</name><affiliation wicri:level="1"><nlm:aff id="A4">Department of Medicine, Division of Hematology, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Division of Hematology, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Horwitz, Marshall S" sort="Horwitz, Marshall S" uniqKey="Horwitz M" first="Marshall S" last="Horwitz">Marshall S. Horwitz</name><affiliation wicri:level="1"><nlm:aff id="A7">Department of Pathology, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="King, Mary Claire" sort="King, Mary Claire" uniqKey="King M" first="Mary-Claire" last="King">Mary-Claire King</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Godley, Lucy A" sort="Godley, Lucy A" uniqKey="Godley L" first="Lucy A" last="Godley">Lucy A. Godley</name><affiliation wicri:level="1"><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Comprehensive Cancer Center, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation></author><author><name sortKey="Shimamura, Akiko" sort="Shimamura, Akiko" uniqKey="Shimamura A" first="Akiko" last="Shimamura">Akiko Shimamura</name><affiliation wicri:level="1"><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A18">Pediatric Hematology/Oncology, Seattle Children’s Hospital, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Pediatric Hematology/Oncology, Seattle Children’s Hospital, Seattle, Washington</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A19">Department of Pediatrics, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25581430</idno><idno type="pmc">4540357</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4540357</idno><idno type="RBID">PMC:4540357</idno><idno type="doi">10.1038/ng.3177</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">003938</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003938</idno><idno type="wicri:Area/Pmc/Curation">003937</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">003937</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Germline <italic>ETV6</italic> mutations in familial thrombocytopenia and hematologic malignancy</title><author><name sortKey="Zhang, Michael Y" sort="Zhang, Michael Y" uniqKey="Zhang M" first="Michael Y" last="Zhang">Michael Y. Zhang</name><affiliation wicri:level="1"><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Churpek, Jane E" sort="Churpek, Jane E" uniqKey="Churpek J" first="Jane E" last="Churpek">Jane E. Churpek</name><affiliation wicri:level="1"><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Comprehensive Cancer Center, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation></author><author><name sortKey="Keel, Sioban B" sort="Keel, Sioban B" uniqKey="Keel S" first="Siobán B" last="Keel">Siobán B. Keel</name><affiliation wicri:level="1"><nlm:aff id="A4">Department of Medicine, Division of Hematology, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Division of Hematology, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Walsh, Tom" sort="Walsh, Tom" uniqKey="Walsh T" first="Tom" last="Walsh">Tom Walsh</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Lee, Ming K" sort="Lee, Ming K" uniqKey="Lee M" first="Ming K" last="Lee">Ming K. Lee</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Loeb, Keith R" sort="Loeb, Keith R" uniqKey="Loeb K" first="Keith R" last="Loeb">Keith R. Loeb</name><affiliation wicri:level="1"><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A7">Department of Pathology, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Gulsuner, Suleyman" sort="Gulsuner, Suleyman" uniqKey="Gulsuner S" first="Suleyman" last="Gulsuner">Suleyman Gulsuner</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Pritchard, Colin C" sort="Pritchard, Colin C" uniqKey="Pritchard C" first="Colin C" last="Pritchard">Colin C. Pritchard</name><affiliation wicri:level="1"><nlm:aff id="A8">Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Laboratory Medicine, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Sanchez Bonilla, Marilyn" sort="Sanchez Bonilla, Marilyn" uniqKey="Sanchez Bonilla M" first="Marilyn" last="Sanchez-Bonilla">Marilyn Sanchez-Bonilla</name><affiliation wicri:level="1"><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Delrow, Jeffrey J" sort="Delrow, Jeffrey J" uniqKey="Delrow J" first="Jeffrey J" last="Delrow">Jeffrey J. Delrow</name><affiliation wicri:level="1"><nlm:aff id="A9">Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Basom, Ryan S" sort="Basom, Ryan S" uniqKey="Basom R" first="Ryan S" last="Basom">Ryan S. Basom</name><affiliation wicri:level="1"><nlm:aff id="A9">Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Forouhar, Melissa" sort="Forouhar, Melissa" uniqKey="Forouhar M" first="Melissa" last="Forouhar">Melissa Forouhar</name><affiliation wicri:level="1"><nlm:aff id="A10">Pediatric Hematology Oncology, Madigan Army Medical Center, Tacoma, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Pediatric Hematology Oncology, Madigan Army Medical Center, Tacoma, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Gyurkocza, Boglarka" sort="Gyurkocza, Boglarka" uniqKey="Gyurkocza B" first="Boglarka" last="Gyurkocza">Boglarka Gyurkocza</name><affiliation wicri:level="1"><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Schwartz, Bradford S" sort="Schwartz, Bradford S" uniqKey="Schwartz B" first="Bradford S" last="Schwartz">Bradford S. Schwartz</name><affiliation wicri:level="1"><nlm:aff id="A11">Morgridge Institute for Research, University of Wisconsin, Madison, Wisconsin, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Morgridge Institute for Research, University of Wisconsin, Madison, Wisconsin</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">Departments of Medicine and Biomolecular Chemistry, University of Wisconsin, Madison, Wisconsin, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Medicine and Biomolecular Chemistry, University of Wisconsin, Madison, Wisconsin</wicri:regionArea></affiliation></author><author><name sortKey="Neistadt, Barbara" sort="Neistadt, Barbara" uniqKey="Neistadt B" first="Barbara" last="Neistadt">Barbara Neistadt</name><affiliation wicri:level="1"><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Comprehensive Cancer Center, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation></author><author><name sortKey="Marquez, Rafael" sort="Marquez, Rafael" uniqKey="Marquez R" first="Rafael" last="Marquez">Rafael Marquez</name><affiliation wicri:level="1"><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Comprehensive Cancer Center, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation></author><author><name sortKey="Mariani, Christopher J" sort="Mariani, Christopher J" uniqKey="Mariani C" first="Christopher J" last="Mariani">Christopher J. Mariani</name><affiliation wicri:level="1"><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Comprehensive Cancer Center, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation></author><author><name sortKey="Coats, Scott A" sort="Coats, Scott A" uniqKey="Coats S" first="Scott A" last="Coats">Scott A. Coats</name><affiliation wicri:level="1"><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Hofmann, Inga" sort="Hofmann, Inga" uniqKey="Hofmann I" first="Inga" last="Hofmann">Inga Hofmann</name><affiliation wicri:level="1"><nlm:aff id="A13">Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A15">Harvard Stem Cell Institute, Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard Stem Cell Institute, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Lindsley, R Coleman" sort="Lindsley, R Coleman" uniqKey="Lindsley R" first="R Coleman" last="Lindsley">R Coleman Lindsley</name><affiliation wicri:level="1"><nlm:aff id="A16">Division of Hematology, Brigham and Women’s Hospital, Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Hematology, Brigham and Women’s Hospital, Boston, Massachusetts</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A17">Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Williams, David A" sort="Williams, David A" uniqKey="Williams D" first="David A" last="Williams">David A. Williams</name><affiliation wicri:level="1"><nlm:aff id="A13">Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A15">Harvard Stem Cell Institute, Boston, Massachusetts, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Harvard Stem Cell Institute, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Abkowitz, Janis L" sort="Abkowitz, Janis L" uniqKey="Abkowitz J" first="Janis L" last="Abkowitz">Janis L. Abkowitz</name><affiliation wicri:level="1"><nlm:aff id="A4">Department of Medicine, Division of Hematology, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Division of Hematology, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Horwitz, Marshall S" sort="Horwitz, Marshall S" uniqKey="Horwitz M" first="Marshall S" last="Horwitz">Marshall S. Horwitz</name><affiliation wicri:level="1"><nlm:aff id="A7">Department of Pathology, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="King, Mary Claire" sort="King, Mary Claire" uniqKey="King M" first="Mary-Claire" last="King">Mary-Claire King</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author><author><name sortKey="Godley, Lucy A" sort="Godley, Lucy A" uniqKey="Godley L" first="Lucy A" last="Godley">Lucy A. Godley</name><affiliation wicri:level="1"><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Comprehensive Cancer Center, University of Chicago, Chicago, Illinois</wicri:regionArea></affiliation></author><author><name sortKey="Shimamura, Akiko" sort="Shimamura, Akiko" uniqKey="Shimamura A" first="Akiko" last="Shimamura">Akiko Shimamura</name><affiliation wicri:level="1"><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A18">Pediatric Hematology/Oncology, Seattle Children’s Hospital, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Pediatric Hematology/Oncology, Seattle Children’s Hospital, Seattle, Washington</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="A19">Department of Pediatrics, University of Washington, Seattle, Washington, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Washington, Seattle, Washington</wicri:regionArea></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">We report germline missense mutations in <italic>ETV6</italic> segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a new hereditary syndrome featuring thrombocytopenia with susceptibility to diverse hematologic neoplasms. Two variants, p.Arg369Gln and p.Arg399Cys, reside in the highly conserved ETS DNA-binding domain. The third variant, p.Pro214Leu, lies within the internal linker domain, which regulates DNA binding. These three amino acid sites correspond to hotspots for recurrent somatic mutation in malignancies. Functional studies show that the mutations abrogate DNA binding, alter subcellular localization, decrease transcriptional repression in a dominant-negative fashion and impair hematopoiesis. These familial genetic studies identify a central role for <italic>ETV6</italic> in hematopoiesis and malignant transformation. The identification of germline predisposition to cytopenias and cancer informs the diagnosis and medical management of at-risk individuals.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9216904</journal-id><journal-id journal-id-type="pubmed-jr-id">2419</journal-id><journal-id journal-id-type="nlm-ta">Nat Genet</journal-id><journal-id journal-id-type="iso-abbrev">Nat. Genet.</journal-id><journal-title-group><journal-title>Nature genetics</journal-title></journal-title-group><issn pub-type="ppub">1061-4036</issn><issn pub-type="epub">1546-1718</issn></journal-meta><article-meta><article-id pub-id-type="pmid">25581430</article-id><article-id pub-id-type="pmc">4540357</article-id><article-id pub-id-type="doi">10.1038/ng.3177</article-id><article-id pub-id-type="manuscript">NIHMS687014</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Germline <italic>ETV6</italic> mutations in familial thrombocytopenia and hematologic malignancy</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Zhang</surname><given-names>Michael Y</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Churpek</surname><given-names>Jane E</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Keel</surname><given-names>Siobán B</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Walsh</surname><given-names>Tom</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Ming K</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Loeb</surname><given-names>Keith R</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Gulsuner</surname><given-names>Suleyman</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Pritchard</surname><given-names>Colin C</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Sanchez-Bonilla</surname><given-names>Marilyn</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Delrow</surname><given-names>Jeffrey J</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Basom</surname><given-names>Ryan S</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Forouhar</surname><given-names>Melissa</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Gyurkocza</surname><given-names>Boglarka</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Schwartz</surname><given-names>Bradford S</given-names></name><xref ref-type="aff" rid="A11">11</xref><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Neistadt</surname><given-names>Barbara</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Marquez</surname><given-names>Rafael</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Mariani</surname><given-names>Christopher J</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Coats</surname><given-names>Scott A</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Hofmann</surname><given-names>Inga</given-names></name><xref ref-type="aff" rid="A13">13</xref><xref ref-type="aff" rid="A14">14</xref><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Lindsley</surname><given-names>R Coleman</given-names></name><xref ref-type="aff" rid="A16">16</xref><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Williams</surname><given-names>David A</given-names></name><xref ref-type="aff" rid="A13">13</xref><xref ref-type="aff" rid="A14">14</xref><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Abkowitz</surname><given-names>Janis L</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Horwitz</surname><given-names>Marshall S</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>King</surname><given-names>Mary-Claire</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Godley</surname><given-names>Lucy A</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Shimamura</surname><given-names>Akiko</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A18">18</xref><xref ref-type="aff" rid="A19">19</xref></contrib></contrib-group><aff id="A1"><label>1</label>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</aff><aff id="A2"><label>2</label>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</aff><aff id="A3"><label>3</label>Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</aff><aff id="A4"><label>4</label>Department of Medicine, Division of Hematology, University of Washington, Seattle, Washington, USA</aff><aff id="A5"><label>5</label>Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</aff><aff id="A6"><label>6</label>Department of Genome Sciences, University of Washington, Seattle, Washington, USA</aff><aff id="A7"><label>7</label>Department of Pathology, University of Washington, Seattle, Washington, USA</aff><aff id="A8"><label>8</label>Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA</aff><aff id="A9"><label>9</label>Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</aff><aff id="A10"><label>10</label>Pediatric Hematology Oncology, Madigan Army Medical Center, Tacoma, Washington, USA</aff><aff id="A11"><label>11</label>Morgridge Institute for Research, University of Wisconsin, Madison, Wisconsin, USA</aff><aff id="A12"><label>12</label>Departments of Medicine and Biomolecular Chemistry, University of Wisconsin, Madison, Wisconsin, USA</aff><aff id="A13"><label>13</label>Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts, USA</aff><aff id="A14"><label>14</label>Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA</aff><aff id="A15"><label>15</label>Harvard Stem Cell Institute, Boston, Massachusetts, USA</aff><aff id="A16"><label>16</label>Division of Hematology, Brigham and Women’s Hospital, Boston, Massachusetts, USA</aff><aff id="A17"><label>17</label>Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA</aff><aff id="A18"><label>18</label>Pediatric Hematology/Oncology, Seattle Children’s Hospital, Seattle, Washington, USA</aff><aff id="A19"><label>19</label>Department of Pediatrics, University of Washington, Seattle, Washington, USA</aff><author-notes><corresp id="FN1">Correspondence should be addressed to A.S. <email>ashimamu@fhcrc.org</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>7</day><month>8</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>12</day><month>1</month><year>2015</year></pub-date><pub-date pub-type="ppub"><month>2</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>18</day><month>8</month><year>2015</year></pub-date><volume>47</volume><issue>2</issue><fpage>180</fpage><lpage>185</lpage><pmc-comment>elocation-id from pubmed: 10.1038/ng.3177</pmc-comment>
<permissions><license license-type="permissions-link"><license-p>Reprints and permissions information is available online at <ext-link ext-link-type="uri" xlink:href="http://www.nature.com/reprints/index.html">http://www.nature.com/reprints/index.html</ext-link></license-p></license></permissions><abstract><p id="P1">We report germline missense mutations in <italic>ETV6</italic> segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a new hereditary syndrome featuring thrombocytopenia with susceptibility to diverse hematologic neoplasms. Two variants, p.Arg369Gln and p.Arg399Cys, reside in the highly conserved ETS DNA-binding domain. The third variant, p.Pro214Leu, lies within the internal linker domain, which regulates DNA binding. These three amino acid sites correspond to hotspots for recurrent somatic mutation in malignancies. Functional studies show that the mutations abrogate DNA binding, alter subcellular localization, decrease transcriptional repression in a dominant-negative fashion and impair hematopoiesis. These familial genetic studies identify a central role for <italic>ETV6</italic> in hematopoiesis and malignant transformation. The identification of germline predisposition to cytopenias and cancer informs the diagnosis and medical management of at-risk individuals.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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