HGF and MET mutations in primary and secondary lymphedema.
Identifieur interne : 002F88 ( PubMed/Checkpoint ); précédent : 002F87; suivant : 002F89HGF and MET mutations in primary and secondary lymphedema.
Auteurs : David N. Finegold [États-Unis] ; Vivien Schacht ; Mark A. Kimak ; Elizabeth C. Lawrence ; Etelka Foeldi ; Jenny M. Karlsson ; Catherine J. Baty ; Robert E. FerrellSource :
- Lymphatic research and biology [ 1539-6851 ] ; 2008.
Descripteurs français
- KwdFr :
- Exons, Facteur de croissance des hépatocytes (génétique), Humains, Lymphangiectasie (génétique), Lymphangiectasie (étiologie), Lymphoedème (génétique), Lymphoedème (étiologie), Mutation, Protéines proto-oncogènes (génétique), Protéines proto-oncogènes c-met, Récepteur facteur croissance (génétique).
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Hepatocyte Growth Factor, Proto-Oncogene Proteins, Receptors, Growth Factor.
- etiology : Lymphangiectasis, Lymphedema.
- genetics : Lymphangiectasis, Lymphedema.
- Exons, Humans, Mutation, Proto-Oncogene Proteins c-met.
Abstract
Lymphedema is the abnormal accumulation of protein-rich fluid in the interstitial space. Primary lymphedema is a rare genetic condition with both autosomal dominant and autosomal recessive modes of inheritance. Three genes, FLT4 (VEGFR3), FOXC2, and SOX18 cause varying forms of primary lymphedema. In industrialized countries, secondary lymphedema is usually associated with cancer therapy and/or trauma. Recent observations suggested that hepatocyte growth factor/high affinity hepatocyte growth factor receptor (HGF/MET) were new candidate lymphedema genes.
DOI: 10.1089/lrb.2008.1524
PubMed: 18564920
Affiliations:
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pubmed:18564920Le document en format XML
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Finegold</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 Desoto Street, Pittsburgh, PA 15261, USA. david.finegold@hgen.pitt.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 Desoto Street, Pittsburgh, PA 15261</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Schacht, Vivien" sort="Schacht, Vivien" uniqKey="Schacht V" first="Vivien" last="Schacht">Vivien Schacht</name></author><author><name sortKey="Kimak, Mark A" sort="Kimak, Mark A" uniqKey="Kimak M" first="Mark A" last="Kimak">Mark A. Kimak</name></author><author><name sortKey="Lawrence, Elizabeth C" sort="Lawrence, Elizabeth C" uniqKey="Lawrence E" first="Elizabeth C" last="Lawrence">Elizabeth C. Lawrence</name></author><author><name sortKey="Foeldi, Etelka" sort="Foeldi, Etelka" uniqKey="Foeldi E" first="Etelka" last="Foeldi">Etelka Foeldi</name></author><author><name sortKey="Karlsson, Jenny M" sort="Karlsson, Jenny M" uniqKey="Karlsson J" first="Jenny M" last="Karlsson">Jenny M. Karlsson</name></author><author><name sortKey="Baty, Catherine J" sort="Baty, Catherine J" uniqKey="Baty C" first="Catherine J" last="Baty">Catherine J. Baty</name></author><author><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E" last="Ferrell">Robert E. Ferrell</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="RBID">pubmed:18564920</idno><idno type="pmid">18564920</idno><idno type="doi">10.1089/lrb.2008.1524</idno><idno type="wicri:Area/PubMed/Corpus">003238</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003238</idno><idno type="wicri:Area/PubMed/Curation">003238</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003238</idno><idno type="wicri:Area/PubMed/Checkpoint">003238</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003238</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">HGF and MET mutations in primary and secondary lymphedema.</title><author><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N" last="Finegold">David N. Finegold</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 Desoto Street, Pittsburgh, PA 15261, USA. david.finegold@hgen.pitt.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 Desoto Street, Pittsburgh, PA 15261</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Schacht, Vivien" sort="Schacht, Vivien" uniqKey="Schacht V" first="Vivien" last="Schacht">Vivien Schacht</name></author><author><name sortKey="Kimak, Mark A" sort="Kimak, Mark A" uniqKey="Kimak M" first="Mark A" last="Kimak">Mark A. Kimak</name></author><author><name sortKey="Lawrence, Elizabeth C" sort="Lawrence, Elizabeth C" uniqKey="Lawrence E" first="Elizabeth C" last="Lawrence">Elizabeth C. Lawrence</name></author><author><name sortKey="Foeldi, Etelka" sort="Foeldi, Etelka" uniqKey="Foeldi E" first="Etelka" last="Foeldi">Etelka Foeldi</name></author><author><name sortKey="Karlsson, Jenny M" sort="Karlsson, Jenny M" uniqKey="Karlsson J" first="Jenny M" last="Karlsson">Jenny M. Karlsson</name></author><author><name sortKey="Baty, Catherine J" sort="Baty, Catherine J" uniqKey="Baty C" first="Catherine J" last="Baty">Catherine J. Baty</name></author><author><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E" last="Ferrell">Robert E. Ferrell</name></author></analytic><series><title level="j">Lymphatic research and biology</title><idno type="ISSN">1539-6851</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Exons</term><term>Hepatocyte Growth Factor (genetics)</term><term>Humans</term><term>Lymphangiectasis (etiology)</term><term>Lymphangiectasis (genetics)</term><term>Lymphedema (etiology)</term><term>Lymphedema (genetics)</term><term>Mutation</term><term>Proto-Oncogene Proteins (genetics)</term><term>Proto-Oncogene Proteins c-met</term><term>Receptors, Growth Factor (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Exons</term><term>Facteur de croissance des hépatocytes (génétique)</term><term>Humains</term><term>Lymphangiectasie (génétique)</term><term>Lymphangiectasie (étiologie)</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (étiologie)</term><term>Mutation</term><term>Protéines proto-oncogènes (génétique)</term><term>Protéines proto-oncogènes c-met</term><term>Récepteur facteur croissance (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Hepatocyte Growth Factor</term><term>Proto-Oncogene Proteins</term><term>Receptors, Growth Factor</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Lymphangiectasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphangiectasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteur de croissance des hépatocytes</term><term>Lymphangiectasie</term><term>Lymphoedème</term><term>Protéines proto-oncogènes</term><term>Récepteur facteur croissance</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Lymphangiectasie</term><term>Lymphoedème</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Exons</term><term>Humans</term><term>Mutation</term><term>Proto-Oncogene Proteins c-met</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Exons</term><term>Humains</term><term>Mutation</term><term>Protéines proto-oncogènes c-met</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Lymphedema is the abnormal accumulation of protein-rich fluid in the interstitial space. Primary lymphedema is a rare genetic condition with both autosomal dominant and autosomal recessive modes of inheritance. Three genes, FLT4 (VEGFR3), FOXC2, and SOX18 cause varying forms of primary lymphedema. In industrialized countries, secondary lymphedema is usually associated with cancer therapy and/or trauma. Recent observations suggested that hepatocyte growth factor/high affinity hepatocyte growth factor receptor (HGF/MET) were new candidate lymphedema genes.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">18564920</PMID><DateCreated><Year>2008</Year><Month>06</Month><Day>20</Day></DateCreated><DateCompleted><Year>2008</Year><Month>10</Month><Day>14</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1539-6851</ISSN><JournalIssue CitedMedium="Print"><Volume>6</Volume><Issue>2</Issue><PubDate><Year>2008</Year></PubDate></JournalIssue><Title>Lymphatic research and biology</Title><ISOAbbreviation>Lymphat Res Biol</ISOAbbreviation></Journal><ArticleTitle>HGF and MET mutations in primary and secondary lymphedema.</ArticleTitle><Pagination><MedlinePgn>65-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1089/lrb.2008.1524</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Lymphedema is the abnormal accumulation of protein-rich fluid in the interstitial space. Primary lymphedema is a rare genetic condition with both autosomal dominant and autosomal recessive modes of inheritance. Three genes, FLT4 (VEGFR3), FOXC2, and SOX18 cause varying forms of primary lymphedema. In industrialized countries, secondary lymphedema is usually associated with cancer therapy and/or trauma. Recent observations suggested that hepatocyte growth factor/high affinity hepatocyte growth factor receptor (HGF/MET) were new candidate lymphedema genes.</AbstractText><AbstractText Label="METHODS AND RESULTS" NlmCategory="RESULTS">The coding exons and flanking regions of HGF and MET were directly sequenced in 145 lymphedema probands, 59 unrelated women with secondary lymphedema following treatment for breast cancer, 21 individual patients with lymphedema and intestinal lymphangiectasia, and at least 159 unrelated ethnic matched control individuals. Mutations leading to truncation or missense changes in evolutionarily conserved residues of HGF and MET were identified. These mutations were not polymorphic in control individuals.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The identification of HGF/MET mutations in primary lymphedema, lymphedema/lymphangiectasia, and breast cancer-associated secondary lymphedema suggests that the HGF/MET pathway is causal or alters susceptibility for a broad range of lymphedema phenotypes. The HGF/MET pathway provides a new target for the prevention and/or treatment of lymphedema.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Finegold</LastName><ForeName>David N</ForeName><Initials>DN</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 Desoto Street, Pittsburgh, PA 15261, USA. david.finegold@hgen.pitt.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schacht</LastName><ForeName>Vivien</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Kimak</LastName><ForeName>Mark A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Lawrence</LastName><ForeName>Elizabeth C</ForeName><Initials>EC</Initials></Author><Author ValidYN="Y"><LastName>Foeldi</LastName><ForeName>Etelka</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Karlsson</LastName><ForeName>Jenny M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Baty</LastName><ForeName>Catherine J</ForeName><Initials>CJ</Initials></Author><Author ValidYN="Y"><LastName>Ferrell</LastName><ForeName>Robert E</ForeName><Initials>RE</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>HD 37243</GrantID><Acronym>HD</Acronym><Agency>NICHD NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Lymphat Res Biol</MedlineTA><NlmUniqueID>101163587</NlmUniqueID><ISSNLinking>1539-6851</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011518">Proto-Oncogene Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017978">Receptors, Growth Factor</NameOfSubstance></Chemical><Chemical><RegistryNumber>67256-21-7</RegistryNumber><NameOfSubstance UI="D017228">Hepatocyte Growth Factor</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber><NameOfSubstance UI="C491743">MET protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber><NameOfSubstance UI="D019859">Proto-Oncogene Proteins c-met</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="CommentIn"><RefSource>Lymphat Res Biol. 2008;6(2):63-4</RefSource><PMID Version="1">18564919</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12039-44</RefSource><PMID 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RefType="Cites"><RefSource>Nature. 1987 May 21-27;327(6119):239-42</RefSource><PMID Version="1">2952888</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D005091" MajorTopicYN="N">Exons</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017228" MajorTopicYN="N">Hepatocyte Growth Factor</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008200" MajorTopicYN="N">Lymphangiectasis</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011518" MajorTopicYN="N">Proto-Oncogene Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D019859" MajorTopicYN="N">Proto-Oncogene Proteins c-met</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017978" MajorTopicYN="N">Receptors, Growth Factor</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC4298750</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>6</Month><Day>21</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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Baty</name><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E" last="Ferrell">Robert E. Ferrell</name><name sortKey="Foeldi, Etelka" sort="Foeldi, Etelka" uniqKey="Foeldi E" first="Etelka" last="Foeldi">Etelka Foeldi</name><name sortKey="Karlsson, Jenny M" sort="Karlsson, Jenny M" uniqKey="Karlsson J" first="Jenny M" last="Karlsson">Jenny M. Karlsson</name><name sortKey="Kimak, Mark A" sort="Kimak, Mark A" uniqKey="Kimak M" first="Mark A" last="Kimak">Mark A. Kimak</name><name sortKey="Lawrence, Elizabeth C" sort="Lawrence, Elizabeth C" uniqKey="Lawrence E" first="Elizabeth C" last="Lawrence">Elizabeth C. Lawrence</name><name sortKey="Schacht, Vivien" sort="Schacht, Vivien" uniqKey="Schacht V" first="Vivien" last="Schacht">Vivien Schacht</name></noCountry><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N" last="Finegold">David N. 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