BRCA1 Circos: a visualisation resource for functional analysis of missense variants
Identifieur interne : 003123 ( Main/Merge ); précédent : 003122; suivant : 003124BRCA1 Circos: a visualisation resource for functional analysis of missense variants
Auteurs : Ankita Jhuraney [États-Unis] ; Aneliya Velkova [États-Unis] ; Randall C. Johnson [États-Unis] ; Bailey Kessing [États-Unis] ; Renato S. Carvalho [Brésil] ; Phillip Whiley [Australie] ; Amanda B. Spurdle [Australie] ; Maaike P G. Vreeswijk ; Sandrine M. Caputo [France] ; Gael A. Millot [France] ; Ana Vega [Espagne] ; Nicolas Coquelle [Canada] ; Alvaro Galli [Italie] ; Diana Eccles [Royaume-Uni] ; Marinus J. Blok ; Tuya Pal [États-Unis] ; Rob B. Van Der Luijt ; Marta Santamari A Pena [Espagne] ; Susan L. Neuhausen [États-Unis] ; Talia Donenberg [États-Unis] ; Eva Machackova [République tchèque] ; Simon Thomas [Royaume-Uni] ; Maxime Vallée [France] ; Fergus J. Couch [États-Unis] ; Sean V. Tavtigian [États-Unis] ; J N Mark Glover [Canada] ; Marcelo A. Carvalho [Brésil] ; Lawrence C. Brody [États-Unis] ; Shyam K. Sharan [États-Unis] ; Alvaro N. Monteiro [États-Unis]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2015.
Descripteurs français
- KwdFr :
- Analyse de mutations d'ADN, Bases de données génétiques, Biologie informatique (), Données de la recherche comme sujet, Dépistage génétique, Femelle, Humains, Infographie, Internet, Logiciel, Mutation faux-sens, Protéine BRCA1 (génétique), Prédisposition génétique à une maladie, Systèmes de gestion de bases de données, Tumeurs de l'ovaire (génétique), Tumeurs du sein (génétique).
- MESH :
- génétique : Protéine BRCA1, Tumeurs de l'ovaire, Tumeurs du sein.
- Analyse de mutations d'ADN, Bases de données génétiques, Biologie informatique, Données de la recherche comme sujet, Dépistage génétique, Femelle, Humains, Infographie, Internet, Logiciel, Mutation faux-sens, Prédisposition génétique à une maladie, Systèmes de gestion de bases de données.
English descriptors
- KwdEn :
- BRCA1 Protein (genetics), Breast Neoplasms (genetics), Computational Biology (methods), Computer Graphics, DNA Mutational Analysis, Database Management Systems, Databases, Genetic, Datasets as Topic, Female, Genetic Predisposition to Disease, Genetic Testing, Humans, Internet, Mutation, Missense, Ovarian Neoplasms (genetics), Software.
- MESH :
- chemical , genetics : BRCA1 Protein.
- genetics : Breast Neoplasms, Ovarian Neoplasms.
- methods : Computational Biology.
- Computer Graphics, DNA Mutational Analysis, Database Management Systems, Databases, Genetic, Datasets as Topic, Female, Genetic Predisposition to Disease, Genetic Testing, Humans, Internet, Mutation, Missense, Software.
Abstract
Inactivating germline mutations in the tumour suppressor gene
To facilitate VUS analysis, we have developed a visualisation resource that compiles and displays functional data on all documented BRCA1 missense variants. BRCA1 Circos is a web-based visualisation tool based on the freely available Circos software package. The BRCA1 Circos web tool (
This research visualisation tool will serve as a quick one-stop publically available reference for all the BRCA1 missense variants that have been functionally assessed. It will facilitate meta-analysis of functional data and improve assessment of pathogenicity of VUS.
Url:
DOI: 10.1136/jmedgenet-2014-102766
PubMed: 25643705
PubMed Central: 4392196
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PMC:4392196Le document en format XML
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<author><name sortKey="Vallee, Maxime" sort="Vallee, Maxime" uniqKey="Vallee M" first="Maxime" last="Vallée">Maxime Vallée</name>
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<author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J" last="Couch">Fergus J. Couch</name>
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<author><name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V" last="Tavtigian">Sean V. Tavtigian</name>
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<author><name sortKey="Glover, J N Mark" sort="Glover, J N Mark" uniqKey="Glover J" first="J N Mark" last="Glover">J N Mark Glover</name>
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<author><name sortKey="Carvalho, Marcelo A" sort="Carvalho, Marcelo A" uniqKey="Carvalho M" first="Marcelo A" last="Carvalho">Marcelo A. Carvalho</name>
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<author><name sortKey="Brody, Lawrence C" sort="Brody, Lawrence C" uniqKey="Brody L" first="Lawrence C" last="Brody">Lawrence C. Brody</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">BRCA1 Circos: a visualisation resource for functional analysis of missense variants</title>
<author><name sortKey="Jhuraney, Ankita" sort="Jhuraney, Ankita" uniqKey="Jhuraney A" first="Ankita" last="Jhuraney">Ankita Jhuraney</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><institution>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute</institution>
,<addr-line>Tampa, Florida</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af2"><institution>University of South Florida Cancer Biology PhD Program</institution>
,<addr-line>Tampa, Florida</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Velkova, Aneliya" sort="Velkova, Aneliya" uniqKey="Velkova A" first="Aneliya" last="Velkova">Aneliya Velkova</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><institution>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute</institution>
,<addr-line>Tampa, Florida</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af24"><institution>Genome Technology Branch, National Human Genome Research Institute</institution>
,<addr-line>Bethesda, Maryland</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Johnson, Randall C" sort="Johnson, Randall C" uniqKey="Johnson R" first="Randall C" last="Johnson">Randall C. Johnson</name>
<affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Frederick National Laboratory for Cancer Research</addr-line>
,<institution>National Cancer Institute</institution>
,<addr-line>Fredrick, Maryland</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kessing, Bailey" sort="Kessing, Bailey" uniqKey="Kessing B" first="Bailey" last="Kessing">Bailey Kessing</name>
<affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Frederick National Laboratory for Cancer Research</addr-line>
,<institution>National Cancer Institute</institution>
,<addr-line>Fredrick, Maryland</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Carvalho, Renato S" sort="Carvalho, Renato S" uniqKey="Carvalho R" first="Renato S" last="Carvalho">Renato S. Carvalho</name>
<affiliation wicri:level="1"><nlm:aff id="af4"><institution>Instituto Federal de Educação, Ciência e Tecnologia</institution>
,<addr-line>Rio de Janeiro, RJ</addr-line>
,<country>Brazil</country>
</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af5"><institution>Instituto Nacional de Câncer, Divisão de Farmacologia</institution>
,<addr-line>Rio de Janeiro</addr-line>
,<country>Brazil</country>
</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Whiley, Phillip" sort="Whiley, Phillip" uniqKey="Whiley P" first="Phillip" last="Whiley">Phillip Whiley</name>
<affiliation wicri:level="1"><nlm:aff id="af6"><addr-line>Genetics and Population Health Division</addr-line>
,<institution>QIMR, BNE</institution>
,<addr-line>Brisbane, Queensland</addr-line>
,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B" last="Spurdle">Amanda B. Spurdle</name>
<affiliation wicri:level="1"><nlm:aff id="af6"><addr-line>Genetics and Population Health Division</addr-line>
,<institution>QIMR, BNE</institution>
,<addr-line>Brisbane, Queensland</addr-line>
,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vreeswijk, Maaike P G" sort="Vreeswijk, Maaike P G" uniqKey="Vreeswijk M" first="Maaike P G" last="Vreeswijk">Maaike P G. Vreeswijk</name>
<affiliation><nlm:aff id="af7"><addr-line>Department of Human Genetics</addr-line>
,<institution>Center for Human and Clinical Genetics, Leiden University Medical Center</institution>
,<addr-line>Leiden</addr-line>
,<country>the Netherlands</country>
</nlm:aff>
<wicri:noCountry code="nlm country">the Netherlands</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Caputo, Sandrine M" sort="Caputo, Sandrine M" uniqKey="Caputo S" first="Sandrine M" last="Caputo">Sandrine M. Caputo</name>
<affiliation wicri:level="1"><nlm:aff id="af8"><addr-line>Service de Génétique</addr-line>
,<institution>Institut Curie, Hôpital René Huguenin</institution>
,<addr-line>Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Millot, Gael A" sort="Millot, Gael A" uniqKey="Millot G" first="Gael A" last="Millot">Gael A. Millot</name>
<affiliation wicri:level="1"><nlm:aff id="af9"><institution>Institut Curie, Université Pierre et Marie Curie</institution>
,<addr-line>Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vega, Ana" sort="Vega, Ana" uniqKey="Vega A" first="Ana" last="Vega">Ana Vega</name>
<affiliation wicri:level="1"><nlm:aff id="af10"><institution>Fundación Pública Galega de Medicina Xenómica</institution>
,<addr-line>Santiago</addr-line>
,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Coquelle, Nicolas" sort="Coquelle, Nicolas" uniqKey="Coquelle N" first="Nicolas" last="Coquelle">Nicolas Coquelle</name>
<affiliation wicri:level="1"><nlm:aff id="af11"><addr-line>Department of Biochemistry</addr-line>
,<institution>University of Alberta</institution>
,<addr-line>Alberta</addr-line>
,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Galli, Alvaro" sort="Galli, Alvaro" uniqKey="Galli A" first="Alvaro" last="Galli">Alvaro Galli</name>
<affiliation wicri:level="1"><nlm:aff id="af12"><institution>Instituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche</institution>
,<addr-line>Pisa</addr-line>
,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name>
<affiliation wicri:level="1"><nlm:aff id="af13"><institution>University of Southampton</institution>
,<addr-line>Southampton</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J" last="Blok">Marinus J. Blok</name>
<affiliation><nlm:aff id="af14"><addr-line>Department of Clinical Genetics</addr-line>
,<institution>Maastricht University Medical Centre</institution>
,<addr-line>Maastricht</addr-line>
,<country>the Netherlands</country>
</nlm:aff>
<wicri:noCountry code="nlm country">the Netherlands</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Pal, Tuya" sort="Pal, Tuya" uniqKey="Pal T" first="Tuya" last="Pal">Tuya Pal</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><institution>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute</institution>
,<addr-line>Tampa, Florida</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Van Der Luijt, Rob B" sort="Van Der Luijt, Rob B" uniqKey="Van Der Luijt R" first="Rob B" last="Van Der Luijt">Rob B. Van Der Luijt</name>
<affiliation><nlm:aff id="af15"><addr-line>Department of Medical Genetics</addr-line>
,<institution>University Medical Center Utrecht</institution>
,<addr-line>Utrecht</addr-line>
,<country>the Netherlands</country>
</nlm:aff>
<wicri:noCountry code="nlm country">the Netherlands</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Santamari A Pena, Marta" sort="Santamari A Pena, Marta" uniqKey="Santamari A Pena M" first="Marta" last="Santamari A Pena">Marta Santamari A Pena</name>
<affiliation wicri:level="1"><nlm:aff id="af16"><institution>CIBERER</institution>
,<addr-line>Madrid</addr-line>
,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L" last="Neuhausen">Susan L. Neuhausen</name>
<affiliation wicri:level="1"><nlm:aff id="af17"><addr-line>Department of Population Sciences</addr-line>
,<institution>Beckman Research Institute of the City of Hope</institution>
,<addr-line>Duarte, California</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Donenberg, Talia" sort="Donenberg, Talia" uniqKey="Donenberg T" first="Talia" last="Donenberg">Talia Donenberg</name>
<affiliation wicri:level="1"><nlm:aff id="af18"><institution>University of Miami Medical School</institution>
,<addr-line>Miami, Florida</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Machackova, Eva" sort="Machackova, Eva" uniqKey="Machackova E" first="Eva" last="Machackova">Eva Machackova</name>
<affiliation wicri:level="1"><nlm:aff id="af19"><addr-line>Department of Cancer Epidemiology and Genetics</addr-line>
,<institution>Masaryk Memorial Cancer Institute</institution>
,<addr-line>Brno</addr-line>
,<country>Czech Republic</country>
</nlm:aff>
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Thomas, Simon" sort="Thomas, Simon" uniqKey="Thomas S" first="Simon" last="Thomas">Simon Thomas</name>
<affiliation wicri:level="1"><nlm:aff id="af20"><institution>Salisbury District Hospital</institution>
,<addr-line>Salisbury, Wiltshire</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vallee, Maxime" sort="Vallee, Maxime" uniqKey="Vallee M" first="Maxime" last="Vallée">Maxime Vallée</name>
<affiliation wicri:level="1"><nlm:aff id="af21"><institution>International Agency for Research on Cancer</institution>
,<addr-line>Lyon</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J" last="Couch">Fergus J. Couch</name>
<affiliation wicri:level="1"><nlm:aff id="af22"><addr-line>Department of Laboratory Medicine and Pathology, and Health Sciences Research</addr-line>
,<institution>Mayo Clinic</institution>
,<addr-line>Rochester, Minnesota</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V" last="Tavtigian">Sean V. Tavtigian</name>
<affiliation wicri:level="1"><nlm:aff id="af23"><institution>Huntsman Cancer Institute, University of Utah School of Medicine</institution>
,<addr-line>Salt Lake City, Utah</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Glover, J N Mark" sort="Glover, J N Mark" uniqKey="Glover J" first="J N Mark" last="Glover">J N Mark Glover</name>
<affiliation wicri:level="1"><nlm:aff id="af11"><addr-line>Department of Biochemistry</addr-line>
,<institution>University of Alberta</institution>
,<addr-line>Alberta</addr-line>
,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Carvalho, Marcelo A" sort="Carvalho, Marcelo A" uniqKey="Carvalho M" first="Marcelo A" last="Carvalho">Marcelo A. Carvalho</name>
<affiliation wicri:level="1"><nlm:aff id="af4"><institution>Instituto Federal de Educação, Ciência e Tecnologia</institution>
,<addr-line>Rio de Janeiro, RJ</addr-line>
,<country>Brazil</country>
</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af5"><institution>Instituto Nacional de Câncer, Divisão de Farmacologia</institution>
,<addr-line>Rio de Janeiro</addr-line>
,<country>Brazil</country>
</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Brody, Lawrence C" sort="Brody, Lawrence C" uniqKey="Brody L" first="Lawrence C" last="Brody">Lawrence C. Brody</name>
<affiliation wicri:level="1"><nlm:aff id="af24"><institution>Genome Technology Branch, National Human Genome Research Institute</institution>
,<addr-line>Bethesda, Maryland</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sharan, Shyam K" sort="Sharan, Shyam K" uniqKey="Sharan S" first="Shyam K" last="Sharan">Shyam K. Sharan</name>
<affiliation wicri:level="1"><nlm:aff id="af25"><addr-line>Center for Cancer Research</addr-line>
,<institution>National Cancer Institute</institution>
,<addr-line>Frederick, Maryland</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Monteiro, Alvaro N" sort="Monteiro, Alvaro N" uniqKey="Monteiro A" first="Alvaro N" last="Monteiro">Alvaro N. Monteiro</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><institution>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute</institution>
,<addr-line>Tampa, Florida</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Journal of Medical Genetics</title>
<idno type="ISSN">0022-2593</idno>
<idno type="eISSN">1468-6244</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>BRCA1 Protein (genetics)</term>
<term>Breast Neoplasms (genetics)</term>
<term>Computational Biology (methods)</term>
<term>Computer Graphics</term>
<term>DNA Mutational Analysis</term>
<term>Database Management Systems</term>
<term>Databases, Genetic</term>
<term>Datasets as Topic</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Internet</term>
<term>Mutation, Missense</term>
<term>Ovarian Neoplasms (genetics)</term>
<term>Software</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de mutations d'ADN</term>
<term>Bases de données génétiques</term>
<term>Biologie informatique ()</term>
<term>Données de la recherche comme sujet</term>
<term>Dépistage génétique</term>
<term>Femelle</term>
<term>Humains</term>
<term>Infographie</term>
<term>Internet</term>
<term>Logiciel</term>
<term>Mutation faux-sens</term>
<term>Protéine BRCA1 (génétique)</term>
<term>Prédisposition génétique à une maladie</term>
<term>Systèmes de gestion de bases de données</term>
<term>Tumeurs de l'ovaire (génétique)</term>
<term>Tumeurs du sein (génétique)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>BRCA1 Protein</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Breast Neoplasms</term>
<term>Ovarian Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Protéine BRCA1</term>
<term>Tumeurs de l'ovaire</term>
<term>Tumeurs du sein</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Computational Biology</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Computer Graphics</term>
<term>DNA Mutational Analysis</term>
<term>Database Management Systems</term>
<term>Databases, Genetic</term>
<term>Datasets as Topic</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Internet</term>
<term>Mutation, Missense</term>
<term>Software</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Analyse de mutations d'ADN</term>
<term>Bases de données génétiques</term>
<term>Biologie informatique</term>
<term>Données de la recherche comme sujet</term>
<term>Dépistage génétique</term>
<term>Femelle</term>
<term>Humains</term>
<term>Infographie</term>
<term>Internet</term>
<term>Logiciel</term>
<term>Mutation faux-sens</term>
<term>Prédisposition génétique à une maladie</term>
<term>Systèmes de gestion de bases de données</term>
</keywords>
</textClass>
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<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>Inactivating germline mutations in the tumour suppressor gene <italic>BRCA1</italic>
are associated with a significantly increased risk of developing breast and ovarian cancer. A large number (>1500) of unique <italic>BRCA1</italic>
variants have been identified in the population and can be classified as pathogenic, non-pathogenic or as variants of unknown significance (VUS). Many VUS are rare missense variants leading to single amino acid changes. Their impact on protein function cannot be directly inferred from sequence information, precluding assessment of their pathogenicity. Thus, functional assays are critical to assess the impact of these VUS on protein activity. BRCA1 is a multifunctional protein and different assays have been used to assess the impact of variants on different biochemical activities and biological processes.</p>
</sec>
<sec><title>Methods and results</title>
<p>To facilitate VUS analysis, we have developed a visualisation resource that compiles and displays functional data on all documented BRCA1 missense variants. BRCA1 Circos is a web-based visualisation tool based on the freely available Circos software package. The BRCA1 Circos web tool (<ext-link ext-link-type="uri" xlink:href="http://research.nhgri.nih.gov/bic/circos/">http://research.nhgri.nih.gov/bic/circos/</ext-link>
) aggregates data from all published BRCA1 missense variants for functional studies, harmonises their results and presents various functionalities to search and interpret individual-level functional information for each BRCA1 missense variant.</p>
</sec>
<sec><title>Conclusions</title>
<p>This research visualisation tool will serve as a quick one-stop publically available reference for all the BRCA1 missense variants that have been functionally assessed. It will facilitate meta-analysis of functional data and improve assessment of pathogenicity of VUS.</p>
</sec>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Claus, Eb" uniqKey="Claus E">EB Claus</name>
</author>
<author><name sortKey="Risch, N" uniqKey="Risch N">N Risch</name>
</author>
<author><name sortKey="Thompson, Wd" uniqKey="Thompson W">WD Thompson</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Miki, Y" uniqKey="Miki Y">Y Miki</name>
</author>
<author><name sortKey="Swensen, J" uniqKey="Swensen J">J Swensen</name>
</author>
<author><name sortKey="Shattuck Eidens, D" uniqKey="Shattuck Eidens D">D Shattuck-Eidens</name>
</author>
<author><name sortKey="Futreal, Pa" uniqKey="Futreal P">PA Futreal</name>
</author>
<author><name sortKey="Harshman, K" uniqKey="Harshman K">K Harshman</name>
</author>
<author><name sortKey="Tavtigian, S" uniqKey="Tavtigian S">S Tavtigian</name>
</author>
<author><name sortKey="Liu, Q" uniqKey="Liu Q">Q Liu</name>
</author>
<author><name sortKey="Cochran, C" uniqKey="Cochran C">C Cochran</name>
</author>
<author><name sortKey="Bennett, Lm" uniqKey="Bennett L">LM Bennett</name>
</author>
<author><name sortKey="Ding, W" uniqKey="Ding W">W Ding</name>
</author>
</analytic>
</biblStruct>
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</TEI>
</record>
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