Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
Identifieur interne : 003938 ( Pmc/Corpus ); précédent : 003937; suivant : 003939Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
Auteurs : Michael Y. Zhang ; Jane E. Churpek ; Siobán B. Keel ; Tom Walsh ; Ming K. Lee ; Keith R. Loeb ; Suleyman Gulsuner ; Colin C. Pritchard ; Marilyn Sanchez-Bonilla ; Jeffrey J. Delrow ; Ryan S. Basom ; Melissa Forouhar ; Boglarka Gyurkocza ; Bradford S. Schwartz ; Barbara Neistadt ; Rafael Marquez ; Christopher J. Mariani ; Scott A. Coats ; Inga Hofmann ; R Coleman Lindsley ; David A. Williams ; Janis L. Abkowitz ; Marshall S. Horwitz ; Mary-Claire King ; Lucy A. Godley ; Akiko ShimamuraSource :
- 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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PMC:4540357Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff></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><nlm:aff id="A4">Department of Medicine, Division of Hematology, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Walsh, Tom" sort="Walsh, Tom" uniqKey="Walsh T" first="Tom" last="Walsh">Tom Walsh</name><affiliation><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A7">Department of Pathology, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Gulsuner, Suleyman" sort="Gulsuner, Suleyman" uniqKey="Gulsuner S" first="Suleyman" last="Gulsuner">Suleyman Gulsuner</name><affiliation><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A8">Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A9">Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A9">Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Forouhar, Melissa" sort="Forouhar, Melissa" uniqKey="Forouhar M" first="Melissa" last="Forouhar">Melissa Forouhar</name><affiliation><nlm:aff id="A10">Pediatric Hematology Oncology, Madigan Army Medical Center, Tacoma, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Gyurkocza, Boglarka" sort="Gyurkocza, Boglarka" uniqKey="Gyurkocza B" first="Boglarka" last="Gyurkocza">Boglarka Gyurkocza</name><affiliation><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A11">Morgridge Institute for Research, University of Wisconsin, Madison, Wisconsin, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Departments of Medicine and Biomolecular Chemistry, University of Wisconsin, Madison, Wisconsin, USA</nlm:aff></affiliation></author><author><name sortKey="Neistadt, Barbara" sort="Neistadt, Barbara" uniqKey="Neistadt B" first="Barbara" last="Neistadt">Barbara Neistadt</name><affiliation><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation></author><author><name sortKey="Marquez, Rafael" sort="Marquez, Rafael" uniqKey="Marquez R" first="Rafael" last="Marquez">Rafael Marquez</name><affiliation><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff></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><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff></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><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Hofmann, Inga" sort="Hofmann, Inga" uniqKey="Hofmann I" first="Inga" last="Hofmann">Inga Hofmann</name><affiliation><nlm:aff id="A13">Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Harvard Stem Cell Institute, Boston, Massachusetts, USA</nlm:aff></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><nlm:aff id="A16">Division of Hematology, Brigham and Women’s Hospital, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA</nlm:aff></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><nlm:aff id="A13">Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Harvard Stem Cell Institute, Boston, Massachusetts, USA</nlm:aff></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><nlm:aff id="A4">Department of Medicine, Division of Hematology, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A7">Department of Pathology, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation></author><author><name sortKey="Shimamura, Akiko" sort="Shimamura, Akiko" uniqKey="Shimamura A" first="Akiko" last="Shimamura">Akiko Shimamura</name><affiliation><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Pediatric Hematology/Oncology, Seattle Children’s Hospital, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A19">Department of Pediatrics, University of Washington, Seattle, Washington, USA</nlm:aff></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></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><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff></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><nlm:aff id="A4">Department of Medicine, Division of Hematology, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Walsh, Tom" sort="Walsh, Tom" uniqKey="Walsh T" first="Tom" last="Walsh">Tom Walsh</name><affiliation><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A7">Department of Pathology, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Gulsuner, Suleyman" sort="Gulsuner, Suleyman" uniqKey="Gulsuner S" first="Suleyman" last="Gulsuner">Suleyman Gulsuner</name><affiliation><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A8">Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A9">Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A9">Genomics and Bioinformatics Shared Resources, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Forouhar, Melissa" sort="Forouhar, Melissa" uniqKey="Forouhar M" first="Melissa" last="Forouhar">Melissa Forouhar</name><affiliation><nlm:aff id="A10">Pediatric Hematology Oncology, Madigan Army Medical Center, Tacoma, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Gyurkocza, Boglarka" sort="Gyurkocza, Boglarka" uniqKey="Gyurkocza B" first="Boglarka" last="Gyurkocza">Boglarka Gyurkocza</name><affiliation><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A11">Morgridge Institute for Research, University of Wisconsin, Madison, Wisconsin, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Departments of Medicine and Biomolecular Chemistry, University of Wisconsin, Madison, Wisconsin, USA</nlm:aff></affiliation></author><author><name sortKey="Neistadt, Barbara" sort="Neistadt, Barbara" uniqKey="Neistadt B" first="Barbara" last="Neistadt">Barbara Neistadt</name><affiliation><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation></author><author><name sortKey="Marquez, Rafael" sort="Marquez, Rafael" uniqKey="Marquez R" first="Rafael" last="Marquez">Rafael Marquez</name><affiliation><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff></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><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff></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><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></affiliation></author><author><name sortKey="Hofmann, Inga" sort="Hofmann, Inga" uniqKey="Hofmann I" first="Inga" last="Hofmann">Inga Hofmann</name><affiliation><nlm:aff id="A13">Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Harvard Stem Cell Institute, Boston, Massachusetts, USA</nlm:aff></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><nlm:aff id="A16">Division of Hematology, Brigham and Women’s Hospital, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA</nlm:aff></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><nlm:aff id="A13">Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Harvard Stem Cell Institute, Boston, Massachusetts, USA</nlm:aff></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><nlm:aff id="A4">Department of Medicine, Division of Hematology, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A7">Department of Pathology, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A5">Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Department of Genome Sciences, University of Washington, Seattle, Washington, USA</nlm:aff></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><nlm:aff id="A2">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA</nlm:aff></affiliation></author><author><name sortKey="Shimamura, Akiko" sort="Shimamura, Akiko" uniqKey="Shimamura A" first="Akiko" last="Shimamura">Akiko Shimamura</name><affiliation><nlm:aff id="A1">Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Pediatric Hematology/Oncology, Seattle Children’s Hospital, Seattle, Washington, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A19">Department of Pediatrics, University of Washington, Seattle, Washington, USA</nlm:aff></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>
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<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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