Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia
Identifieur interne : 007A60 ( Ncbi/Merge ); précédent : 007A59; suivant : 007A61Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia
Auteurs : Jane E. Churpek [États-Unis] ; Khateriaa Pyrtel ; Krishna-Latha Kanchi ; Jin Shao ; Daniel Koboldt [États-Unis] ; Christopher A. Miller ; Dong Shen [États-Unis] ; Robert Fulton ; Michelle O Aughlin ; Catrina Fronick ; Iskra Pusic [États-Unis] ; Geoffrey L. Uy [États-Unis] ; Evan M. Braunstein [États-Unis] ; Mark Levis [États-Unis] ; Julie Ross [États-Unis] ; Kevin Elliott ; Sharon Heath ; Allan Jiang [États-Unis] ; Peter Westervelt [États-Unis] ; John F. Dipersio [États-Unis] ; Daniel C. Link [États-Unis] ; Matthew J. Walter [États-Unis] ; John Welch [États-Unis] ; Richard Wilson ; Timothy J. Ley [États-Unis] ; Lucy A. Godley [États-Unis] ; Timothy A. Graubert [États-Unis]Source :
- Blood [ 0006-4971 ] ; 2015.
Abstract
Known pathogenic germ line variants in 12 genes can explain nearly 30% of families with inherited predisposition to MDS/AML. Asymptomatic carriers of germ line
Url:
DOI: 10.1182/blood-2015-04-641100
PubMed: 26492932
PubMed Central: 4661171
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Churpek</name><affiliation wicri:level="2"><nlm:aff id="aff1">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Illinois</region></placeName><wicri:cityArea>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, The University of Chicago, Chicago</wicri:cityArea></affiliation></author><author><name sortKey="Pyrtel, Khateriaa" sort="Pyrtel, Khateriaa" uniqKey="Pyrtel K" first="Khateriaa" last="Pyrtel">Khateriaa Pyrtel</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation></author><author><name sortKey="Kanchi, Krishna Latha" sort="Kanchi, Krishna Latha" uniqKey="Kanchi K" first="Krishna-Latha" last="Kanchi">Krishna-Latha Kanchi</name><affiliation><nlm:aff wicri:cut=", and" id="aff3">The Genome Institute</nlm:aff></affiliation></author><author><name sortKey="Shao, Jin" sort="Shao, Jin" uniqKey="Shao J" first="Jin" last="Shao">Jin Shao</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation></author><author><name sortKey="Koboldt, Daniel" sort="Koboldt, Daniel" uniqKey="Koboldt D" first="Daniel" last="Koboldt">Daniel Koboldt</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff3">The Genome Institute</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="aff4">Division of Oncology, Department of Medicine, Washington University, St Louis, MO;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Division of Oncology, Department of Medicine, Washington University, St Louis</wicri:cityArea></affiliation></author><author><name sortKey="Miller, Christopher A" sort="Miller, Christopher A" uniqKey="Miller C" first="Christopher A." last="Miller">Christopher A. 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Churpek</name><affiliation wicri:level="2"><nlm:aff id="aff1">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Illinois</region></placeName><wicri:cityArea>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, The University of Chicago, Chicago</wicri:cityArea></affiliation></author><author><name sortKey="Pyrtel, Khateriaa" sort="Pyrtel, Khateriaa" uniqKey="Pyrtel K" first="Khateriaa" last="Pyrtel">Khateriaa Pyrtel</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation></author><author><name sortKey="Kanchi, Krishna Latha" sort="Kanchi, Krishna Latha" uniqKey="Kanchi K" first="Krishna-Latha" last="Kanchi">Krishna-Latha Kanchi</name><affiliation><nlm:aff wicri:cut=", and" id="aff3">The Genome Institute</nlm:aff></affiliation></author><author><name sortKey="Shao, Jin" sort="Shao, Jin" uniqKey="Shao J" first="Jin" last="Shao">Jin Shao</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation></author><author><name sortKey="Koboldt, Daniel" sort="Koboldt, Daniel" uniqKey="Koboldt D" first="Daniel" last="Koboldt">Daniel Koboldt</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff3">The Genome Institute</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="aff4">Division of Oncology, Department of Medicine, Washington University, St Louis, MO;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Division of Oncology, Department of Medicine, Washington University, St Louis</wicri:cityArea></affiliation></author><author><name sortKey="Miller, Christopher A" sort="Miller, Christopher A" uniqKey="Miller C" first="Christopher A." last="Miller">Christopher A. Miller</name><affiliation><nlm:aff wicri:cut=", and" id="aff3">The Genome Institute</nlm:aff></affiliation></author><author><name sortKey="Shen, Dong" sort="Shen, Dong" uniqKey="Shen D" first="Dong" last="Shen">Dong Shen</name><affiliation wicri:level="2"><nlm:aff id="aff5">Medimmune/AstraZeneca, Gaithersburg, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Medimmune/AstraZeneca, Gaithersburg</wicri:cityArea></affiliation></author><author><name sortKey="Fulton, Robert" sort="Fulton, Robert" uniqKey="Fulton R" first="Robert" last="Fulton">Robert Fulton</name><affiliation><nlm:aff wicri:cut=", and" id="aff3">The Genome Institute</nlm:aff></affiliation></author><author><name sortKey="O Aughlin, Michelle" sort="O Aughlin, Michelle" uniqKey="O Aughlin M" first="Michelle" last="O Aughlin">Michelle O Aughlin</name><affiliation><nlm:aff wicri:cut=", and" id="aff3">The Genome Institute</nlm:aff></affiliation></author><author><name sortKey="Fronick, Catrina" sort="Fronick, Catrina" uniqKey="Fronick C" first="Catrina" last="Fronick">Catrina Fronick</name><affiliation><nlm:aff wicri:cut=", and" id="aff3">The Genome Institute</nlm:aff></affiliation></author><author><name sortKey="Pusic, Iskra" sort="Pusic, Iskra" uniqKey="Pusic I" first="Iskra" last="Pusic">Iskra Pusic</name><affiliation wicri:level="2"><nlm:aff id="aff4">Division of Oncology, Department of Medicine, Washington University, St Louis, MO;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Division of Oncology, Department of Medicine, Washington University, St Louis</wicri:cityArea></affiliation></author><author><name sortKey="Uy, Geoffrey L" sort="Uy, Geoffrey L" uniqKey="Uy G" first="Geoffrey L." last="Uy">Geoffrey L. Uy</name><affiliation wicri:level="2"><nlm:aff id="aff4">Division of Oncology, Department of Medicine, Washington University, St Louis, MO;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Division of Oncology, Department of Medicine, Washington University, St Louis</wicri:cityArea></affiliation></author><author><name sortKey="Braunstein, Evan M" sort="Braunstein, Evan M" uniqKey="Braunstein E" first="Evan M." last="Braunstein">Evan M. Braunstein</name><affiliation wicri:level="2"><nlm:aff id="aff6">Sidney Kimmel Cancer Center, Johns Hopkins University, Baltimore, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Sidney Kimmel Cancer Center, Johns Hopkins University, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Levis, Mark" sort="Levis, Mark" uniqKey="Levis M" first="Mark" last="Levis">Mark Levis</name><affiliation wicri:level="2"><nlm:aff id="aff6">Sidney Kimmel Cancer Center, Johns Hopkins University, Baltimore, MD;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Sidney Kimmel Cancer Center, Johns Hopkins University, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Ross, Julie" sort="Ross, Julie" uniqKey="Ross J" first="Julie" last="Ross">Julie Ross</name><affiliation wicri:level="2"><nlm:aff wicri:cut="; and" id="aff7">Department of Medicine, University of Minnesota, Minneapolis, MN</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Department of Medicine, University of Minnesota, Minneapolis</wicri:cityArea></affiliation></author><author><name sortKey="Elliott, Kevin" sort="Elliott, Kevin" uniqKey="Elliott K" first="Kevin" last="Elliott">Kevin Elliott</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation></author><author><name sortKey="Heath, Sharon" sort="Heath, Sharon" uniqKey="Heath S" first="Sharon" last="Heath">Sharon Heath</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation></author><author><name sortKey="Jiang, Allan" sort="Jiang, Allan" uniqKey="Jiang A" first="Allan" last="Jiang">Allan Jiang</name><affiliation wicri:level="2"><nlm:aff id="aff4">Division of Oncology, Department of Medicine, Washington University, St Louis, MO;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Division of Oncology, Department of Medicine, Washington University, St Louis</wicri:cityArea></affiliation></author><author><name sortKey="Westervelt, Peter" sort="Westervelt, Peter" uniqKey="Westervelt P" first="Peter" last="Westervelt">Peter Westervelt</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="aff4">Division of Oncology, Department of Medicine, Washington University, St Louis, MO;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Division of Oncology, Department of Medicine, Washington University, St Louis</wicri:cityArea></affiliation></author><author><name sortKey="Dipersio, John F" sort="Dipersio, John F" uniqKey="Dipersio J" first="John F." last="Dipersio">John F. Dipersio</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="aff4">Division of Oncology, Department of Medicine, Washington University, St Louis, MO;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Division of Oncology, Department of Medicine, Washington University, St Louis</wicri:cityArea></affiliation></author><author><name sortKey="Link, Daniel C" sort="Link, Daniel C" uniqKey="Link D" first="Daniel C." last="Link">Daniel C. Link</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="aff4">Division of Oncology, Department of Medicine, Washington University, St Louis, MO;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Division of Oncology, Department of Medicine, Washington University, St Louis</wicri:cityArea></affiliation></author><author><name sortKey="Walter, Matthew J" sort="Walter, Matthew J" uniqKey="Walter M" first="Matthew J." last="Walter">Matthew J. Walter</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="aff4">Division of Oncology, Department of Medicine, Washington University, St Louis, MO;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Division of Oncology, Department of Medicine, Washington University, St Louis</wicri:cityArea></affiliation></author><author><name sortKey="Welch, John" sort="Welch, John" uniqKey="Welch J" first="John" last="Welch">John Welch</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="aff4">Division of Oncology, Department of Medicine, Washington University, St Louis, MO;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Division of Oncology, Department of Medicine, Washington University, St Louis</wicri:cityArea></affiliation></author><author><name sortKey="Wilson, Richard" sort="Wilson, Richard" uniqKey="Wilson R" first="Richard" last="Wilson">Richard Wilson</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff3">The Genome Institute</nlm:aff></affiliation></author><author><name sortKey="Ley, Timothy J" sort="Ley, Timothy J" uniqKey="Ley T" first="Timothy J." last="Ley">Timothy J. Ley</name><affiliation><nlm:aff id="aff2">Siteman Cancer Center,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff3">The Genome Institute</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="aff4">Division of Oncology, Department of Medicine, Washington University, St Louis, MO;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Missouri (État)</region></placeName><wicri:cityArea>Division of Oncology, Department of Medicine, Washington University, St Louis</wicri:cityArea></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="aff1">Section of Hematology/Oncology, Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Illinois</region></placeName><wicri:cityArea>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, The University of Chicago, Chicago</wicri:cityArea></affiliation></author><author><name sortKey="Graubert, Timothy A" sort="Graubert, Timothy A" uniqKey="Graubert T" first="Timothy A." last="Graubert">Timothy A. Graubert</name><affiliation wicri:level="2"><nlm:aff id="aff8">Massachusetts General Hospital Cancer Center, Boston, MA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Massachusetts General Hospital Cancer Center, Boston</wicri:cityArea></affiliation></author></analytic><series><title level="j">Blood</title><idno type="ISSN">0006-4971</idno><idno type="eISSN">1528-0020</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>Key Points</title><p><list list-type="bullet"><list-item><p>Known pathogenic germ line variants in 12 genes can explain nearly 30% of families with inherited predisposition to MDS/AML.</p></list-item><list-item><p>Asymptomatic carriers of germ line <italic>RUNX1</italic> mutations develop detectable clonal hematopoiesis with a cumulative risk of >80% by age 50 years.</p></list-item></list></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>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Blood</journal-id><journal-id journal-id-type="iso-abbrev">Blood</journal-id><journal-id journal-id-type="hwp">bloodjournal</journal-id><journal-id journal-id-type="pmc">blood</journal-id><journal-id journal-id-type="publisher-id">Blood</journal-id><journal-title-group><journal-title>Blood</journal-title></journal-title-group><issn pub-type="ppub">0006-4971</issn><issn pub-type="epub">1528-0020</issn><publisher><publisher-name>American Society of Hematology</publisher-name><publisher-loc>Washington, DC</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26492932</article-id><article-id pub-id-type="pmc">4661171</article-id><article-id pub-id-type="publisher-id">2015/641100</article-id><article-id pub-id-type="doi">10.1182/blood-2015-04-641100</article-id><article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>29</subject><subject>8</subject><subject>33</subject></subj-group><subj-group subj-group-type="heading"><subject>Myeloid Neoplasia</subject></subj-group></article-categories><title-group><article-title>Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Churpek</surname><given-names>Jane E.</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Pyrtel</surname><given-names>Khateriaa</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Kanchi</surname><given-names>Krishna-Latha</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Shao</surname><given-names>Jin</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Koboldt</surname><given-names>Daniel</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Miller</surname><given-names>Christopher A.</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Shen</surname><given-names>Dong</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Fulton</surname><given-names>Robert</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>O’Laughlin</surname><given-names>Michelle</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Fronick</surname><given-names>Catrina</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Pusic</surname><given-names>Iskra</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Uy</surname><given-names>Geoffrey L.</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Braunstein</surname><given-names>Evan M.</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Levis</surname><given-names>Mark</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Ross</surname><given-names>Julie</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Elliott</surname><given-names>Kevin</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Heath</surname><given-names>Sharon</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Jiang</surname><given-names>Allan</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Westervelt</surname><given-names>Peter</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>DiPersio</surname><given-names>John F.</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Link</surname><given-names>Daniel C.</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Walter</surname><given-names>Matthew J.</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Welch</surname><given-names>John</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Wilson</surname><given-names>Richard</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Ley</surname><given-names>Timothy J.</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Godley</surname><given-names>Lucy A.</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Graubert</surname><given-names>Timothy A.</given-names></name><xref ref-type="aff" rid="aff8">8</xref></contrib><aff id="aff1"><label>1</label>Section of Hematology/Oncology, Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL;</aff><aff id="aff2"><label>2</label>Siteman Cancer Center,</aff><aff id="aff3"><label>3</label>The Genome Institute, and</aff><aff id="aff4"><label>4</label>Division of Oncology, Department of Medicine, Washington University, St Louis, MO;</aff><aff id="aff5"><label>5</label>Medimmune/AstraZeneca, Gaithersburg, MD;</aff><aff id="aff6"><label>6</label>Sidney Kimmel Cancer Center, Johns Hopkins University, Baltimore, MD;</aff><aff id="aff7"><label>7</label>Department of Medicine, University of Minnesota, Minneapolis, MN; and</aff><aff id="aff8"><label>8</label>Massachusetts General Hospital Cancer Center, Boston, MA</aff></contrib-group><pub-date pub-type="ppub"><day>26</day><month>11</month><year>2015</year></pub-date><pub-date pub-type="epreprint"><day>22</day><month>10</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>26</day><month>11</month><year>2016</year></pub-date><pmc-comment> PMC Release delay is 12 months and
0 days and was based on the
<volume>126</volume><issue>22</issue><fpage>2484</fpage><lpage>2490</lpage><history><date date-type="received"><day>16</day><month>4</month><year>2015</year></date><date date-type="accepted"><day>31</day><month>8</month><year>2015</year></date></history><permissions><copyright-statement>© 2015 by The American Society of Hematology</copyright-statement><copyright-year>2015</copyright-year></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="2484.pdf"></self-uri><abstract abstract-type="executive-summary"><title>Key Points</title><p><list list-type="bullet"><list-item><p>Known pathogenic germ line variants in 12 genes can explain nearly 30% of families with inherited predisposition to MDS/AML.</p></list-item><list-item><p>Asymptomatic carriers of germ line <italic>RUNX1</italic> mutations develop detectable clonal hematopoiesis with a cumulative risk of >80% by age 50 years.</p></list-item></list></p></abstract><abstract><p>Familial clustering of myelodysplastic syndromes (MDSs) and acute myeloid leukemia (AML) can be caused by inherited factors. We screened 59 individuals from 17 families with 2 or more biological relatives with MDS/AML for variants in 12 genes with established roles in predisposition to MDS/AML, and identified a pathogenic germ line variant in 5 families (29%). Extending the screen with a panel of 264 genes that are recurrently mutated in de novo AML, we identified rare, nonsynonymous germ line variants in 4 genes, each segregating with MDS/AML in 2 families. Somatic mutations are required for progression to MDS/AML in these familial cases. Using a combination of targeted and exome sequencing of tumor and matched normal samples from 26 familial MDS/AML cases and asymptomatic carriers, we identified recurrent frameshift mutations in the cohesin-associated factor <italic>PDS5B,</italic> co-occurrence of somatic <italic>ASXL1</italic> mutations with germ line <italic>GATA2</italic> mutations, and recurrent mutations in other known MDS/AML drivers. Mutations in genes that are recurrently mutated in de novo AML were underrepresented in the familial MDS/AML cases, although the total number of somatic mutations per exome was the same. Lastly, clonal skewing of hematopoiesis was detected in 67% of young, asymptomatic <italic>RUNX1</italic> carriers, providing a potential biomarker that could be used for surveillance in these high-risk families.</p></abstract><funding-group><award-group><funding-source id="CS100">National Institutes of Health</funding-source></award-group></funding-group><counts><page-count count="7"></page-count></counts><custom-meta-group><custom-meta><meta-name>access</meta-name><meta-value>free</meta-value></custom-meta></custom-meta-group></article-meta></front></pmc><affiliations><list><country><li>États-Unis</li></country><region><li>Illinois</li><li>Maryland</li><li>Massachusetts</li><li>Minnesota</li><li>Missouri (État)</li></region></list><tree><noCountry><name sortKey="Elliott, Kevin" sort="Elliott, Kevin" uniqKey="Elliott K" first="Kevin" last="Elliott">Kevin Elliott</name><name sortKey="Fronick, Catrina" sort="Fronick, Catrina" uniqKey="Fronick C" first="Catrina" last="Fronick">Catrina Fronick</name><name sortKey="Fulton, Robert" sort="Fulton, Robert" uniqKey="Fulton R" first="Robert" last="Fulton">Robert Fulton</name><name sortKey="Heath, Sharon" sort="Heath, Sharon" uniqKey="Heath S" first="Sharon" last="Heath">Sharon Heath</name><name sortKey="Kanchi, Krishna Latha" sort="Kanchi, Krishna Latha" uniqKey="Kanchi K" first="Krishna-Latha" last="Kanchi">Krishna-Latha Kanchi</name><name sortKey="Miller, Christopher A" sort="Miller, Christopher A" uniqKey="Miller C" first="Christopher A." last="Miller">Christopher A. Miller</name><name sortKey="O Aughlin, Michelle" sort="O Aughlin, Michelle" uniqKey="O Aughlin M" first="Michelle" last="O Aughlin">Michelle O Aughlin</name><name sortKey="Pyrtel, Khateriaa" sort="Pyrtel, Khateriaa" uniqKey="Pyrtel K" first="Khateriaa" last="Pyrtel">Khateriaa Pyrtel</name><name sortKey="Shao, Jin" sort="Shao, Jin" uniqKey="Shao J" first="Jin" last="Shao">Jin Shao</name><name sortKey="Wilson, Richard" sort="Wilson, Richard" uniqKey="Wilson R" first="Richard" last="Wilson">Richard Wilson</name></noCountry><country name="États-Unis"><region name="Illinois"><name sortKey="Churpek, Jane E" sort="Churpek, Jane E" uniqKey="Churpek J" first="Jane E." last="Churpek">Jane E. Churpek</name></region><name sortKey="Braunstein, Evan M" sort="Braunstein, Evan M" uniqKey="Braunstein E" first="Evan M." last="Braunstein">Evan M. Braunstein</name><name sortKey="Dipersio, John F" sort="Dipersio, John F" uniqKey="Dipersio J" first="John F." last="Dipersio">John F. Dipersio</name><name sortKey="Godley, Lucy A" sort="Godley, Lucy A" uniqKey="Godley L" first="Lucy A." last="Godley">Lucy A. Godley</name><name sortKey="Graubert, Timothy A" sort="Graubert, Timothy A" uniqKey="Graubert T" first="Timothy A." last="Graubert">Timothy A. Graubert</name><name sortKey="Jiang, Allan" sort="Jiang, Allan" uniqKey="Jiang A" first="Allan" last="Jiang">Allan Jiang</name><name sortKey="Koboldt, Daniel" sort="Koboldt, Daniel" uniqKey="Koboldt D" first="Daniel" last="Koboldt">Daniel Koboldt</name><name sortKey="Levis, Mark" sort="Levis, Mark" uniqKey="Levis M" first="Mark" last="Levis">Mark Levis</name><name sortKey="Ley, Timothy J" sort="Ley, Timothy J" uniqKey="Ley T" first="Timothy J." last="Ley">Timothy J. Ley</name><name sortKey="Link, Daniel C" sort="Link, Daniel C" uniqKey="Link D" first="Daniel C." last="Link">Daniel C. Link</name><name sortKey="Pusic, Iskra" sort="Pusic, Iskra" uniqKey="Pusic I" first="Iskra" last="Pusic">Iskra Pusic</name><name sortKey="Ross, Julie" sort="Ross, Julie" uniqKey="Ross J" first="Julie" last="Ross">Julie Ross</name><name sortKey="Shen, Dong" sort="Shen, Dong" uniqKey="Shen D" first="Dong" last="Shen">Dong Shen</name><name sortKey="Uy, Geoffrey L" sort="Uy, Geoffrey L" uniqKey="Uy G" first="Geoffrey L." last="Uy">Geoffrey L. Uy</name><name sortKey="Walter, Matthew J" sort="Walter, Matthew J" uniqKey="Walter M" first="Matthew J." last="Walter">Matthew J. Walter</name><name sortKey="Welch, John" sort="Welch, John" uniqKey="Welch J" first="John" last="Welch">John Welch</name><name sortKey="Westervelt, Peter" sort="Westervelt, Peter" uniqKey="Westervelt P" first="Peter" last="Westervelt">Peter Westervelt</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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