Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.
Identifieur interne : 002260 ( PubMed/Curation ); précédent : 002259; suivant : 002261Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.
Auteurs : David N. Finegold [États-Unis] ; Catherine J. Baty ; Kelly Z. Knickelbein ; Shelley Perschke ; Sarah E. Noon ; Diana Campbell ; Jenny M. Karlsson ; Diana Huang ; Mark A. Kimak ; Elizabeth C. Lawrence ; Eleanor Feingold ; Stephen D. Meriney ; Adam M. Brufsky ; Robert E. FerrellSource :
- Clinical cancer research : an official journal of the American Association for Cancer Research [ 1078-0432 ] ; 2012.
Descripteurs français
- KwdFr :
- Adulte, Adulte d'âge moyen, Analyse de séquence d'ADN, Cellules HeLa, Connexines (génétique), Facteurs de risque, Femelle, Humains, Jeune adulte, Lignée cellulaire tumorale, Lymphoedème (génétique), Lymphoedème (traitement médicamenteux), Prédisposition génétique à une maladie, Sujet âgé, Sujet âgé de 80 ans ou plus, Séquence nucléotidique, Tumeurs du sein (), Tumeurs du sein (anatomopathologie), Tumeurs du sein (génétique), Tumeurs du sein (traitement médicamenteux), Études cas-témoins.
- MESH :
- anatomopathologie : Tumeurs du sein.
- génétique : Connexines, Lymphoedème, Tumeurs du sein.
- traitement médicamenteux : Lymphoedème, Tumeurs du sein.
- Adulte, Adulte d'âge moyen, Analyse de séquence d'ADN, Cellules HeLa, Facteurs de risque, Femelle, Humains, Jeune adulte, Lignée cellulaire tumorale, Prédisposition génétique à une maladie, Sujet âgé, Sujet âgé de 80 ans ou plus, Séquence nucléotidique, Tumeurs du sein, Études cas-témoins.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Base Sequence, Breast Neoplasms (drug therapy), Breast Neoplasms (genetics), Breast Neoplasms (pathology), Breast Neoplasms (surgery), Case-Control Studies, Cell Line, Tumor, Connexins (genetics), Female, Genetic Predisposition to Disease, HeLa Cells, Humans, Lymphedema (drug therapy), Lymphedema (genetics), Middle Aged, Risk Factors, Sequence Analysis, DNA, Young Adult.
- MESH :
- chemical , genetics : Connexins.
- drug therapy : Breast Neoplasms, Lymphedema.
- genetics : Breast Neoplasms, Lymphedema.
- pathology : Breast Neoplasms.
- surgery : Breast Neoplasms.
- Adult, Aged, Aged, 80 and over, Base Sequence, Case-Control Studies, Cell Line, Tumor, Female, Genetic Predisposition to Disease, HeLa Cells, Humans, Middle Aged, Risk Factors, Sequence Analysis, DNA, Young Adult.
Abstract
Secondary lymphedema is a frequent complication of breast cancer associated with surgery, chemotherapy, or radiation following breast cancer treatment. The potential contribution of genetic susceptibility to risk of developing secondary lymphedema following surgical trauma, radiation, and other tissue insults has not been studied.
DOI: 10.1158/1078-0432.CCR-11-2303
PubMed: 22351697
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Knickelbein</name></author><author><name sortKey="Perschke, Shelley" sort="Perschke, Shelley" uniqKey="Perschke S" first="Shelley" last="Perschke">Shelley Perschke</name></author><author><name sortKey="Noon, Sarah E" sort="Noon, Sarah E" uniqKey="Noon S" first="Sarah E" last="Noon">Sarah E. Noon</name></author><author><name sortKey="Campbell, Diana" sort="Campbell, Diana" uniqKey="Campbell D" first="Diana" last="Campbell">Diana Campbell</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="Huang, Diana" sort="Huang, Diana" uniqKey="Huang D" first="Diana" last="Huang">Diana Huang</name></author><author><name sortKey="Kimak, Mark A" sort="Kimak, Mark A" uniqKey="Kimak M" first="Mark A" last="Kimak">Mark A. 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Finegold</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261</wicri:regionArea></affiliation></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="Knickelbein, Kelly Z" sort="Knickelbein, Kelly Z" uniqKey="Knickelbein K" first="Kelly Z" last="Knickelbein">Kelly Z. Knickelbein</name></author><author><name sortKey="Perschke, Shelley" sort="Perschke, Shelley" uniqKey="Perschke S" first="Shelley" last="Perschke">Shelley Perschke</name></author><author><name sortKey="Noon, Sarah E" sort="Noon, Sarah E" uniqKey="Noon S" first="Sarah E" last="Noon">Sarah E. Noon</name></author><author><name sortKey="Campbell, Diana" sort="Campbell, Diana" uniqKey="Campbell D" first="Diana" last="Campbell">Diana Campbell</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="Huang, Diana" sort="Huang, Diana" uniqKey="Huang D" first="Diana" last="Huang">Diana Huang</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="Feingold, Eleanor" sort="Feingold, Eleanor" uniqKey="Feingold E" first="Eleanor" last="Feingold">Eleanor Feingold</name></author><author><name sortKey="Meriney, Stephen D" sort="Meriney, Stephen D" uniqKey="Meriney S" first="Stephen D" last="Meriney">Stephen D. Meriney</name></author><author><name sortKey="Brufsky, Adam M" sort="Brufsky, Adam M" uniqKey="Brufsky A" first="Adam M" last="Brufsky">Adam M. Brufsky</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">Clinical cancer research : an official journal of the American Association for Cancer Research</title><idno type="ISSN">1078-0432</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Base Sequence</term><term>Breast Neoplasms (drug therapy)</term><term>Breast Neoplasms (genetics)</term><term>Breast Neoplasms (pathology)</term><term>Breast Neoplasms (surgery)</term><term>Case-Control Studies</term><term>Cell Line, Tumor</term><term>Connexins (genetics)</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>HeLa Cells</term><term>Humans</term><term>Lymphedema (drug therapy)</term><term>Lymphedema (genetics)</term><term>Middle Aged</term><term>Risk Factors</term><term>Sequence Analysis, DNA</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de séquence d'ADN</term><term>Cellules HeLa</term><term>Connexines (génétique)</term><term>Facteurs de risque</term><term>Femelle</term><term>Humains</term><term>Jeune adulte</term><term>Lignée cellulaire tumorale</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (traitement médicamenteux)</term><term>Prédisposition génétique à une maladie</term><term>Sujet âgé</term><term>Sujet âgé de 80 ans ou plus</term><term>Séquence nucléotidique</term><term>Tumeurs du sein ()</term><term>Tumeurs du sein (anatomopathologie)</term><term>Tumeurs du sein (génétique)</term><term>Tumeurs du sein (traitement médicamenteux)</term><term>Études cas-témoins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Connexins</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Tumeurs du sein</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Breast Neoplasms</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Breast Neoplasms</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Connexines</term><term>Lymphoedème</term><term>Tumeurs du sein</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Breast Neoplasms</term></keywords><keywords scheme="MESH" qualifier="surgery" xml:lang="en"><term>Breast Neoplasms</term></keywords><keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Lymphoedème</term><term>Tumeurs du sein</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Base Sequence</term><term>Case-Control Studies</term><term>Cell Line, Tumor</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>HeLa Cells</term><term>Humans</term><term>Middle Aged</term><term>Risk Factors</term><term>Sequence Analysis, DNA</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de séquence d'ADN</term><term>Cellules HeLa</term><term>Facteurs de risque</term><term>Femelle</term><term>Humains</term><term>Jeune adulte</term><term>Lignée cellulaire tumorale</term><term>Prédisposition génétique à une maladie</term><term>Sujet âgé</term><term>Sujet âgé de 80 ans ou plus</term><term>Séquence nucléotidique</term><term>Tumeurs du sein</term><term>Études cas-témoins</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Secondary lymphedema is a frequent complication of breast cancer associated with surgery, chemotherapy, or radiation following breast cancer treatment. The potential contribution of genetic susceptibility to risk of developing secondary lymphedema following surgical trauma, radiation, and other tissue insults has not been studied.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">22351697</PMID><DateCreated><Year>2012</Year><Month>04</Month><Day>17</Day></DateCreated><DateCompleted><Year>2012</Year><Month>08</Month><Day>31</Day></DateCompleted><DateRevised><Year>2016</Year><Month>10</Month><Day>19</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">1078-0432</ISSN><JournalIssue CitedMedium="Internet"><Volume>18</Volume><Issue>8</Issue><PubDate><Year>2012</Year><Month>Apr</Month><Day>15</Day></PubDate></JournalIssue><Title>Clinical cancer research : an official journal of the American Association for Cancer Research</Title><ISOAbbreviation>Clin. Cancer Res.</ISOAbbreviation></Journal><ArticleTitle>Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.</ArticleTitle><Pagination><MedlinePgn>2382-90</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1158/1078-0432.CCR-11-2303</ELocationID><Abstract><AbstractText Label="PURPOSE" NlmCategory="OBJECTIVE">Secondary lymphedema is a frequent complication of breast cancer associated with surgery, chemotherapy, or radiation following breast cancer treatment. The potential contribution of genetic susceptibility to risk of developing secondary lymphedema following surgical trauma, radiation, and other tissue insults has not been studied.</AbstractText><AbstractText Label="EXPERIMENTAL DESIGN" NlmCategory="METHODS">To determine whether women with breast cancer and secondary lymphedema had mutations in candidate lymphedema genes, we undertook a case-control study of 188 women diagnosed with breast cancer recruited from the University of Pittsburgh Breast Cancer Program (http://www.upmccancercenter.com/breast/index.cfm) between 2000 and 2010. Candidate lymphedema genes, GJC2 (encoding connexin 47 [Cx47]), FOXC2, HGF, MET, and FLT4 (encoding VEGFR3), were sequenced for mutation. Bioinformatics analysis and in vitro functional assays were used to confirm significance of novel mutations.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Cx47 mutations were identified in individuals having secondary lymphedema following breast cancer treatment but not in breast cancer controls or normal women without breast cancer. These novel mutations are dysfunctional as assessed through in vitro assays and bioinformatics analysis and provide evidence that altered gap junction function leads to lymphedema.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Our findings challenge the view that secondary lymphedema is solely due to mechanical trauma and support the hypothesis that genetic susceptibility is an important risk factor for secondary lymphedema. A priori recognition of genetic risk (i) raises the potential for early detection and intervention for a high-risk group and (ii) allows the possibility of altering surgical approach and/or chemo- and radiation therapy, or direct medical treatment of secondary lymphedema with novel connexin-modifying drugs.</AbstractText><CopyrightInformation>©2012 AACR.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Finegold</LastName><ForeName>David N</ForeName><Initials>DN</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baty</LastName><ForeName>Catherine J</ForeName><Initials>CJ</Initials></Author><Author ValidYN="Y"><LastName>Knickelbein</LastName><ForeName>Kelly Z</ForeName><Initials>KZ</Initials></Author><Author ValidYN="Y"><LastName>Perschke</LastName><ForeName>Shelley</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Noon</LastName><ForeName>Sarah E</ForeName><Initials>SE</Initials></Author><Author ValidYN="Y"><LastName>Campbell</LastName><ForeName>Diana</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Karlsson</LastName><ForeName>Jenny M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Huang</LastName><ForeName>Diana</ForeName><Initials>D</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>Feingold</LastName><ForeName>Eleanor</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Meriney</LastName><ForeName>Stephen D</ForeName><Initials>SD</Initials></Author><Author ValidYN="Y"><LastName>Brufsky</LastName><ForeName>Adam M</ForeName><Initials>AM</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>R01 HD037243</GrantID><Acronym>HD</Acronym><Agency>NICHD NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 HL092866</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>UL1 RR024153</GrantID><Acronym>RR</Acronym><Agency>NCRR NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>HL092866</GrantID><Acronym>HL</Acronym><Agency>NHLBI 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><ArticleDate DateType="Electronic"><Year>2012</Year><Month>02</Month><Day>20</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Clin Cancer Res</MedlineTA><NlmUniqueID>9502500</NlmUniqueID><ISSNLinking>1078-0432</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017630">Connexins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C427305">connexin 47</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2000 Dec;67(6):1382-8</RefSource><PMID Version="1">11078474</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Dev Biol. 2011 Jun 15;354(2):253-66</RefSource><PMID Version="1">21515254</PMID></CommentsCorrections><CommentsCorrections 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Version="1">20960023</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 2011 Apr;48(4):251-5</RefSource><PMID Version="1">21266381</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mol Genet. 2001 May 15;10(11):1185-9</RefSource><PMID Version="1">11371511</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000369" MajorTopicYN="N">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001943" MajorTopicYN="N">Breast Neoplasms</DescriptorName><QualifierName UI="Q000188" MajorTopicYN="N">drug therapy</QualifierName><QualifierName UI="Q000235" 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