Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia
Identifieur interne : 001D39 ( Main/Exploration ); précédent : 001D38; suivant : 001D40Genomic 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
Affiliations:
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Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia</title>
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</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>
<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>
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