LymphedemaV1, Main, Exploration, bibRecord, 001D38

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Identifieur interne : 001D38 ( Main/Exploration ); précédent : 001D37; suivant : 001D39

Germline 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.

RBID : PMC:4540357

Abstract

We report germline missense mutations in ETV6 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 ETV6 in hematopoiesis and malignant transformation. The identification of germline predisposition to cytopenias and cancer informs the diagnosis and medical management of at-risk individuals.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4540357

DOI: 10.1038/ng.3177
PubMed: 25581430
PubMed Central: 4540357

Affiliations:

Le document en format XML

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 mutations in familial thrombocytopenia and hematologic malignancy</title>
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<author><name sortKey="Loeb, Keith R" sort="Loeb, Keith R" uniqKey="Loeb K" first="Keith R" last="Loeb">Keith R. Loeb</name>
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<author><name sortKey="Gulsuner, Suleyman" sort="Gulsuner, Suleyman" uniqKey="Gulsuner S" first="Suleyman" last="Gulsuner">Suleyman Gulsuner</name>
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<author><name sortKey="Sanchez Bonilla, Marilyn" sort="Sanchez Bonilla, Marilyn" uniqKey="Sanchez Bonilla M" first="Marilyn" last="Sanchez-Bonilla">Marilyn Sanchez-Bonilla</name>
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<author><name sortKey="Delrow, Jeffrey J" sort="Delrow, Jeffrey J" uniqKey="Delrow J" first="Jeffrey J" last="Delrow">Jeffrey J. Delrow</name>
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<author><name sortKey="Basom, Ryan S" sort="Basom, Ryan S" uniqKey="Basom R" first="Ryan S" last="Basom">Ryan S. Basom</name>
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<wicri:regionArea>Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea>
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<author><name sortKey="Forouhar, Melissa" sort="Forouhar, Melissa" uniqKey="Forouhar M" first="Melissa" last="Forouhar">Melissa Forouhar</name>
<affiliation wicri:level="2"><nlm:aff id="A10">Pediatric Hematology Oncology, Madigan Army Medical Center, Tacoma, Washington, USA</nlm:aff>
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<wicri:regionArea>Pediatric Hematology Oncology, Madigan Army Medical Center, Tacoma, Washington</wicri:regionArea>
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<author><name sortKey="Gyurkocza, Boglarka" sort="Gyurkocza, Boglarka" uniqKey="Gyurkocza B" first="Boglarka" last="Gyurkocza">Boglarka Gyurkocza</name>
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<wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea>
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<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="2"><nlm:aff id="A11">Morgridge Institute for Research, University of Wisconsin, Madison, Wisconsin, USA</nlm:aff>
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<wicri:regionArea>Morgridge Institute for Research, University of Wisconsin, Madison, Wisconsin</wicri:regionArea>
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<author><name sortKey="Neistadt, Barbara" sort="Neistadt, Barbara" uniqKey="Neistadt B" first="Barbara" last="Neistadt">Barbara Neistadt</name>
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<affiliation wicri:level="2"><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff>
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<wicri:regionArea>Comprehensive Cancer Center, University of Chicago, Chicago, Illinois</wicri:regionArea>
<placeName><region type="state">Illinois</region>
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<author><name sortKey="Marquez, Rafael" sort="Marquez, Rafael" uniqKey="Marquez R" first="Rafael" last="Marquez">Rafael Marquez</name>
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<country xml:lang="fr">États-Unis</country>
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<affiliation wicri:level="2"><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>
<placeName><region type="state">Illinois</region>
</placeName>
</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="2"><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>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Illinois</region>
</placeName>
</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="2"><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>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hofmann, Inga" sort="Hofmann, Inga" uniqKey="Hofmann I" first="Inga" last="Hofmann">Inga Hofmann</name>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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="2"><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>
<placeName><region type="state">Massachusetts</region>
</placeName>
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<affiliation wicri:level="2"><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>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Williams, David A" sort="Williams, David A" uniqKey="Williams D" first="David A" last="Williams">David A. Williams</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
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<affiliation wicri:level="2"><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>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Massachusetts</region>
</placeName>
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<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="4"><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>
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<settlement type="city">Seattle</settlement>
</placeName>
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<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="4"><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>
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<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</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="4"><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>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
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<affiliation wicri:level="4"><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>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</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="2"><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>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shimamura, Akiko" sort="Shimamura, Akiko" uniqKey="Shimamura A" first="Akiko" last="Shimamura">Akiko Shimamura</name>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A19">Department of Pediatrics, University of Washington, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<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>
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<country xml:lang="fr">États-Unis</country>
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<placeName><region type="state">Washington (État)</region>
</placeName>
</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="2"><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>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Illinois</region>
</placeName>
</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="4"><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>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Walsh, Tom" sort="Walsh, Tom" uniqKey="Walsh T" first="Tom" last="Walsh">Tom Walsh</name>
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<placeName><region type="state">Washington (État)</region>
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</placeName>
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<placeName><region type="state">Washington (État)</region>
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</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Lee, Ming K" sort="Lee, Ming K" uniqKey="Lee M" first="Ming K" last="Lee">Ming K. Lee</name>
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<country xml:lang="fr">États-Unis</country>
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<placeName><region type="state">Washington (État)</region>
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</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation wicri:level="4"><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>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Loeb, Keith R" sort="Loeb, Keith R" uniqKey="Loeb K" first="Keith R" last="Loeb">Keith R. Loeb</name>
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<placeName><region type="state">Washington (État)</region>
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</affiliation>
<affiliation wicri:level="4"><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>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Gulsuner, Suleyman" sort="Gulsuner, Suleyman" uniqKey="Gulsuner S" first="Suleyman" last="Gulsuner">Suleyman Gulsuner</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
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</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation wicri:level="4"><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>
<placeName><region type="state">Washington (État)</region>
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</placeName>
<orgName type="university">Université de Washington</orgName>
</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="4"><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>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</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>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Delrow, Jeffrey J" sort="Delrow, Jeffrey J" uniqKey="Delrow J" first="Jeffrey J" last="Delrow">Jeffrey J. Delrow</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Basom, Ryan S" sort="Basom, Ryan S" uniqKey="Basom R" first="Ryan S" last="Basom">Ryan S. Basom</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Forouhar, Melissa" sort="Forouhar, Melissa" uniqKey="Forouhar M" first="Melissa" last="Forouhar">Melissa Forouhar</name>
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<wicri:regionArea>Pediatric Hematology Oncology, Madigan Army Medical Center, Tacoma, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gyurkocza, Boglarka" sort="Gyurkocza, Boglarka" uniqKey="Gyurkocza B" first="Boglarka" last="Gyurkocza">Boglarka Gyurkocza</name>
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<wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schwartz, Bradford S" sort="Schwartz, Bradford S" uniqKey="Schwartz B" first="Bradford S" last="Schwartz">Bradford S. Schwartz</name>
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<country xml:lang="fr">États-Unis</country>
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<placeName><region type="state">Wisconsin</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Wisconsin</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Neistadt, Barbara" sort="Neistadt, Barbara" uniqKey="Neistadt B" first="Barbara" last="Neistadt">Barbara Neistadt</name>
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<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>
<placeName><region type="state">Illinois</region>
</placeName>
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<affiliation wicri:level="2"><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>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Marquez, Rafael" sort="Marquez, Rafael" uniqKey="Marquez R" first="Rafael" last="Marquez">Rafael Marquez</name>
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<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>
<placeName><region type="state">Illinois</region>
</placeName>
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<affiliation wicri:level="2"><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>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mariani, Christopher J" sort="Mariani, Christopher J" uniqKey="Mariani C" first="Christopher J" last="Mariani">Christopher J. Mariani</name>
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<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>
<placeName><region type="state">Illinois</region>
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<affiliation wicri:level="2"><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Coats, Scott A" sort="Coats, Scott A" uniqKey="Coats S" first="Scott A" last="Coats">Scott A. Coats</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hofmann, Inga" sort="Hofmann, Inga" uniqKey="Hofmann I" first="Inga" last="Hofmann">Inga Hofmann</name>
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<wicri:regionArea>Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lindsley, R Coleman" sort="Lindsley, R Coleman" uniqKey="Lindsley R" first="R Coleman" last="Lindsley">R Coleman Lindsley</name>
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<wicri:regionArea>Division of Hematology, Brigham and Women’s Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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="2"><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>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
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</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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="4"><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>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</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="4"><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>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</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="4"><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>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation wicri:level="4"><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>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</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="2"><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>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shimamura, Akiko" sort="Shimamura, Akiko" uniqKey="Shimamura A" first="Akiko" last="Shimamura">Akiko Shimamura</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A18">Pediatric Hematology/Oncology, Seattle Children’s Hospital, Seattle, Washington, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><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>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</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>
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<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>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Illinois</li>
<li>Massachusetts</li>
<li>Washington (État)</li>
<li>Wisconsin</li>
</region>
<settlement><li>Seattle</li>
</settlement>
<orgName><li>Université de Washington</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Washington (État)"><name sortKey="Zhang, Michael Y" sort="Zhang, Michael Y" uniqKey="Zhang M" first="Michael Y" last="Zhang">Michael Y. Zhang</name>
</region>
<name sortKey="Abkowitz, Janis L" sort="Abkowitz, Janis L" uniqKey="Abkowitz J" first="Janis L" last="Abkowitz">Janis L. Abkowitz</name>
<name sortKey="Basom, Ryan S" sort="Basom, Ryan S" uniqKey="Basom R" first="Ryan S" last="Basom">Ryan S. Basom</name>
<name sortKey="Churpek, Jane E" sort="Churpek, Jane E" uniqKey="Churpek J" first="Jane E" last="Churpek">Jane E. Churpek</name>
<name sortKey="Churpek, Jane E" sort="Churpek, Jane E" uniqKey="Churpek J" first="Jane E" last="Churpek">Jane E. Churpek</name>
<name sortKey="Coats, Scott A" sort="Coats, Scott A" uniqKey="Coats S" first="Scott A" last="Coats">Scott A. Coats</name>
<name sortKey="Delrow, Jeffrey J" sort="Delrow, Jeffrey J" uniqKey="Delrow J" first="Jeffrey J" last="Delrow">Jeffrey J. Delrow</name>
<name sortKey="Forouhar, Melissa" sort="Forouhar, Melissa" uniqKey="Forouhar M" first="Melissa" last="Forouhar">Melissa Forouhar</name>
<name sortKey="Godley, Lucy A" sort="Godley, Lucy A" uniqKey="Godley L" first="Lucy A" last="Godley">Lucy A. Godley</name>
<name sortKey="Godley, Lucy A" sort="Godley, Lucy A" uniqKey="Godley L" first="Lucy A" last="Godley">Lucy A. Godley</name>
<name sortKey="Gulsuner, Suleyman" sort="Gulsuner, Suleyman" uniqKey="Gulsuner S" first="Suleyman" last="Gulsuner">Suleyman Gulsuner</name>
<name sortKey="Gulsuner, Suleyman" sort="Gulsuner, Suleyman" uniqKey="Gulsuner S" first="Suleyman" last="Gulsuner">Suleyman Gulsuner</name>
<name sortKey="Gyurkocza, Boglarka" sort="Gyurkocza, Boglarka" uniqKey="Gyurkocza B" first="Boglarka" last="Gyurkocza">Boglarka Gyurkocza</name>
<name sortKey="Hofmann, Inga" sort="Hofmann, Inga" uniqKey="Hofmann I" first="Inga" last="Hofmann">Inga Hofmann</name>
<name sortKey="Hofmann, Inga" sort="Hofmann, Inga" uniqKey="Hofmann I" first="Inga" last="Hofmann">Inga Hofmann</name>
<name sortKey="Hofmann, Inga" sort="Hofmann, Inga" uniqKey="Hofmann I" first="Inga" last="Hofmann">Inga Hofmann</name>
<name sortKey="Horwitz, Marshall S" sort="Horwitz, Marshall S" uniqKey="Horwitz M" first="Marshall S" last="Horwitz">Marshall S. Horwitz</name>
<name sortKey="Keel, Sioban B" sort="Keel, Sioban B" uniqKey="Keel S" first="Siobán B" last="Keel">Siobán B. Keel</name>
<name sortKey="King, Mary Claire" sort="King, Mary Claire" uniqKey="King M" first="Mary-Claire" last="King">Mary-Claire King</name>
<name sortKey="King, Mary Claire" sort="King, Mary Claire" uniqKey="King M" first="Mary-Claire" last="King">Mary-Claire King</name>
<name sortKey="Lee, Ming K" sort="Lee, Ming K" uniqKey="Lee M" first="Ming K" last="Lee">Ming K. Lee</name>
<name sortKey="Lee, Ming K" sort="Lee, Ming K" uniqKey="Lee M" first="Ming K" last="Lee">Ming K. Lee</name>
<name sortKey="Lindsley, R Coleman" sort="Lindsley, R Coleman" uniqKey="Lindsley R" first="R Coleman" last="Lindsley">R Coleman Lindsley</name>
<name sortKey="Lindsley, R Coleman" sort="Lindsley, R Coleman" uniqKey="Lindsley R" first="R Coleman" last="Lindsley">R Coleman Lindsley</name>
<name sortKey="Loeb, Keith R" sort="Loeb, Keith R" uniqKey="Loeb K" first="Keith R" last="Loeb">Keith R. Loeb</name>
<name sortKey="Loeb, Keith R" sort="Loeb, Keith R" uniqKey="Loeb K" first="Keith R" last="Loeb">Keith R. Loeb</name>
<name sortKey="Mariani, Christopher J" sort="Mariani, Christopher J" uniqKey="Mariani C" first="Christopher J" last="Mariani">Christopher J. Mariani</name>
<name sortKey="Mariani, Christopher J" sort="Mariani, Christopher J" uniqKey="Mariani C" first="Christopher J" last="Mariani">Christopher J. Mariani</name>
<name sortKey="Marquez, Rafael" sort="Marquez, Rafael" uniqKey="Marquez R" first="Rafael" last="Marquez">Rafael Marquez</name>
<name sortKey="Marquez, Rafael" sort="Marquez, Rafael" uniqKey="Marquez R" first="Rafael" last="Marquez">Rafael Marquez</name>
<name sortKey="Neistadt, Barbara" sort="Neistadt, Barbara" uniqKey="Neistadt B" first="Barbara" last="Neistadt">Barbara Neistadt</name>
<name sortKey="Neistadt, Barbara" sort="Neistadt, Barbara" uniqKey="Neistadt B" first="Barbara" last="Neistadt">Barbara Neistadt</name>
<name sortKey="Pritchard, Colin C" sort="Pritchard, Colin C" uniqKey="Pritchard C" first="Colin C" last="Pritchard">Colin C. Pritchard</name>
<name sortKey="Sanchez Bonilla, Marilyn" sort="Sanchez Bonilla, Marilyn" uniqKey="Sanchez Bonilla M" first="Marilyn" last="Sanchez-Bonilla">Marilyn Sanchez-Bonilla</name>
<name sortKey="Schwartz, Bradford S" sort="Schwartz, Bradford S" uniqKey="Schwartz B" first="Bradford S" last="Schwartz">Bradford S. Schwartz</name>
<name sortKey="Schwartz, Bradford S" sort="Schwartz, Bradford S" uniqKey="Schwartz B" first="Bradford S" last="Schwartz">Bradford S. Schwartz</name>
<name sortKey="Shimamura, Akiko" sort="Shimamura, Akiko" uniqKey="Shimamura A" first="Akiko" last="Shimamura">Akiko Shimamura</name>
<name sortKey="Shimamura, Akiko" sort="Shimamura, Akiko" uniqKey="Shimamura A" first="Akiko" last="Shimamura">Akiko Shimamura</name>
<name sortKey="Shimamura, Akiko" sort="Shimamura, Akiko" uniqKey="Shimamura A" first="Akiko" last="Shimamura">Akiko Shimamura</name>
<name sortKey="Walsh, Tom" sort="Walsh, Tom" uniqKey="Walsh T" first="Tom" last="Walsh">Tom Walsh</name>
<name sortKey="Walsh, Tom" sort="Walsh, Tom" uniqKey="Walsh T" first="Tom" last="Walsh">Tom Walsh</name>
<name sortKey="Williams, David A" sort="Williams, David A" uniqKey="Williams D" first="David A" last="Williams">David A. Williams</name>
<name sortKey="Williams, David A" sort="Williams, David A" uniqKey="Williams D" first="David A" last="Williams">David A. Williams</name>
<name sortKey="Williams, David A" sort="Williams, David A" uniqKey="Williams D" first="David A" last="Williams">David A. Williams</name>
</country>
</tree>
</affiliations>
</record>

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Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

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