BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
Identifieur interne : 002E99 ( PubMed/Checkpoint ); précédent : 002E98; suivant : 002F00BRCA1 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 [Pays-Bas] ; Sandrine M. Caputo [France] ; Gael A. Millot [France] ; Ana Vega [Espagne] ; Nicolas Coquelle [Canada] ; Alvaro Galli [Italie] ; Diana Eccles [Royaume-Uni] ; Marinus J. Blok [Pays-Bas] ; Tuya Pal [États-Unis] ; Rob B. Van Der Luijt [Pays-Bas] ; 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 [ 1468-6244 ] ; 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 BRCA1 are associated with a significantly increased risk of developing breast and ovarian cancer. A large number (>1500) of unique BRCA1 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.
DOI: 10.1136/jmedgenet-2014-102766
PubMed: 25643705
Affiliations:
- Australie, Brésil, Canada, Espagne, France, Italie, Pays-Bas, Royaume-Uni, République tchèque, États-Unis
- Auvergne-Rhône-Alpes, Californie, Communauté de Madrid, Floride, Hollande-Méridionale, Maryland, Minnesota, Moravie, Rhône-Alpes, Toscane, Utah, Utrecht (province), État de Rio de Janeiro, Île-de-France
- Brno, Leyde, Lyon, Madrid, Paris, Pise, Rio de Janeiro, Utrecht
- Université Pierre-et-Marie-Curie
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:25643705Le document en format XML
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Blok</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Pal, Tuya" sort="Pal, Tuya" uniqKey="Pal T" first="Tuya" last="Pal">Tuya Pal</name><affiliation wicri:level="2"><nlm:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></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 wicri:level="3"><nlm:affiliation>Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Medical Genetics, University Medical Center Utrecht, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></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="3"><nlm:affiliation>CIBERER, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>CIBERER, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></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="2"><nlm:affiliation>Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Donenberg, Talia" sort="Donenberg, Talia" uniqKey="Donenberg T" first="Talia" last="Donenberg">Talia Donenberg</name><affiliation wicri:level="2"><nlm:affiliation>University of Miami Medical School, Miami, Florida, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Miami Medical School, Miami, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Machackova, Eva" sort="Machackova, Eva" uniqKey="Machackova E" first="Eva" last="Machackova">Eva Machackova</name><affiliation wicri:level="3"><nlm:affiliation>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.</nlm:affiliation><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno</wicri:regionArea><placeName><settlement type="city">Brno</settlement><region>Moravie</region></placeName></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:affiliation>Salisbury District Hospital, Salisbury, Wiltshire, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Salisbury District Hospital, Salisbury, Wiltshire</wicri:regionArea><wicri:noRegion>Wiltshire</wicri:noRegion></affiliation></author><author><name sortKey="Vallee, Maxime" sort="Vallee, Maxime" uniqKey="Vallee M" first="Maxime" last="Vallée">Maxime Vallée</name><affiliation wicri:level="3"><nlm:affiliation>International Agency for Research on Cancer, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></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="2"><nlm:affiliation>Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></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="2"><nlm:affiliation>Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></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:affiliation>Department of Biochemistry, University of Alberta, Alberta, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Biochemistry, University of Alberta, Alberta</wicri:regionArea><wicri:noRegion>Alberta</wicri:noRegion></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="3"><nlm:affiliation>Instituto Federal de Educação, Ciência e Tecnologia, Rio de Janeiro, RJ, Brazil Instituto Nacional de Câncer, Divisão de Farmacologia, Rio de Janeiro, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Instituto Federal de Educação, Ciência e Tecnologia, Rio de Janeiro, RJ, Brazil Instituto Nacional de Câncer, Divisão de Farmacologia, Rio de Janeiro</wicri:regionArea><placeName><settlement type="city">Rio de Janeiro</settlement><region type="state">État de Rio de Janeiro</region></placeName></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="2"><nlm:affiliation>Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></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="2"><nlm:affiliation>Center for Cancer Research, National Cancer Institute, Frederick, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Cancer Research, National Cancer Institute, Frederick, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></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="2"><nlm:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25643705</idno><idno type="pmid">25643705</idno><idno type="doi">10.1136/jmedgenet-2014-102766</idno><idno type="wicri:Area/PubMed/Corpus">002E56</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002E56</idno><idno type="wicri:Area/PubMed/Curation">002D80</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002D80</idno><idno type="wicri:Area/PubMed/Checkpoint">002D80</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002D80</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">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="2"><nlm:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA University of South Florida Cancer Biology PhD Program, Tampa, Florida, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA University of South Florida Cancer Biology PhD Program, Tampa, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Velkova, Aneliya" sort="Velkova, Aneliya" uniqKey="Velkova A" first="Aneliya" last="Velkova">Aneliya Velkova</name><affiliation wicri:level="2"><nlm:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></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="2"><nlm:affiliation>Frederick National Laboratory for Cancer Research, National Cancer Institute, Fredrick, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Frederick National Laboratory for Cancer Research, National Cancer Institute, Fredrick, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Kessing, Bailey" sort="Kessing, Bailey" uniqKey="Kessing B" first="Bailey" last="Kessing">Bailey Kessing</name><affiliation wicri:level="2"><nlm:affiliation>Frederick National Laboratory for Cancer Research, National Cancer Institute, Fredrick, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Frederick National Laboratory for Cancer Research, National Cancer Institute, Fredrick, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></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="3"><nlm:affiliation>Instituto Federal de Educação, Ciência e Tecnologia, Rio de Janeiro, RJ, Brazil Instituto Nacional de Câncer, Divisão de Farmacologia, Rio de Janeiro, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Instituto Federal de Educação, Ciência e Tecnologia, Rio de Janeiro, RJ, Brazil Instituto Nacional de Câncer, Divisão de Farmacologia, Rio de Janeiro</wicri:regionArea><placeName><settlement type="city">Rio de Janeiro</settlement><region type="state">État de Rio de Janeiro</region></placeName></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:affiliation>Genetics and Population Health Division, QIMR, BNE, Brisbane, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics and Population Health Division, QIMR, BNE, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></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:affiliation>Genetics and Population Health Division, QIMR, BNE, Brisbane, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics and Population Health Division, QIMR, BNE, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></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 wicri:level="3"><nlm:affiliation>Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></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="3"><nlm:affiliation>Service de Génétique, Institut Curie, Hôpital René Huguenin, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Institut Curie, Hôpital René Huguenin, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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="4"><nlm:affiliation>Institut Curie, Université Pierre et Marie Curie, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie, Université Pierre et Marie Curie, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Pierre-et-Marie-Curie</orgName></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:affiliation>Fundación Pública Galega de Medicina Xenómica, Santiago, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Pública Galega de Medicina Xenómica, Santiago</wicri:regionArea><wicri:noRegion>Santiago</wicri:noRegion></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:affiliation>Department of Biochemistry, University of Alberta, Alberta, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Biochemistry, University of Alberta, Alberta</wicri:regionArea><wicri:noRegion>Alberta</wicri:noRegion></affiliation></author><author><name sortKey="Galli, Alvaro" sort="Galli, Alvaro" uniqKey="Galli A" first="Alvaro" last="Galli">Alvaro Galli</name><affiliation wicri:level="3"><nlm:affiliation>Instituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche, Pisa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Instituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></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:affiliation>University of Southampton, Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University of Southampton, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></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 wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Pal, Tuya" sort="Pal, Tuya" uniqKey="Pal T" first="Tuya" last="Pal">Tuya Pal</name><affiliation wicri:level="2"><nlm:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></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 wicri:level="3"><nlm:affiliation>Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Medical Genetics, University Medical Center Utrecht, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></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="3"><nlm:affiliation>CIBERER, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>CIBERER, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></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="2"><nlm:affiliation>Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Donenberg, Talia" sort="Donenberg, Talia" uniqKey="Donenberg T" first="Talia" last="Donenberg">Talia Donenberg</name><affiliation wicri:level="2"><nlm:affiliation>University of Miami Medical School, Miami, Florida, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Miami Medical School, Miami, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Machackova, Eva" sort="Machackova, Eva" uniqKey="Machackova E" first="Eva" last="Machackova">Eva Machackova</name><affiliation wicri:level="3"><nlm:affiliation>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.</nlm:affiliation><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno</wicri:regionArea><placeName><settlement type="city">Brno</settlement><region>Moravie</region></placeName></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:affiliation>Salisbury District Hospital, Salisbury, Wiltshire, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Salisbury District Hospital, Salisbury, Wiltshire</wicri:regionArea><wicri:noRegion>Wiltshire</wicri:noRegion></affiliation></author><author><name sortKey="Vallee, Maxime" sort="Vallee, Maxime" uniqKey="Vallee M" first="Maxime" last="Vallée">Maxime Vallée</name><affiliation wicri:level="3"><nlm:affiliation>International Agency for Research on Cancer, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></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="2"><nlm:affiliation>Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></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="2"><nlm:affiliation>Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></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:affiliation>Department of Biochemistry, University of Alberta, Alberta, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Biochemistry, University of Alberta, Alberta</wicri:regionArea><wicri:noRegion>Alberta</wicri:noRegion></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="3"><nlm:affiliation>Instituto Federal de Educação, Ciência e Tecnologia, Rio de Janeiro, RJ, Brazil Instituto Nacional de Câncer, Divisão de Farmacologia, Rio de Janeiro, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Instituto Federal de Educação, Ciência e Tecnologia, Rio de Janeiro, RJ, Brazil Instituto Nacional de Câncer, Divisão de Farmacologia, Rio de Janeiro</wicri:regionArea><placeName><settlement type="city">Rio de Janeiro</settlement><region type="state">État de Rio de Janeiro</region></placeName></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="2"><nlm:affiliation>Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></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="2"><nlm:affiliation>Center for Cancer Research, National Cancer Institute, Frederick, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Cancer Research, National Cancer Institute, Frederick, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></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="2"><nlm:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="eISSN">1468-6244</idno><imprint><date when="2015" type="published">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></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a significantly increased risk of developing breast and ovarian cancer. A large number (>1500) of unique BRCA1 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.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25643705</PMID><DateCreated><Year>2015</Year><Month>03</Month><Day>17</Day></DateCreated><DateCompleted><Year>2015</Year><Month>12</Month><Day>21</Day></DateCompleted><DateRevised><Year>2016</Year><Month>10</Month><Day>19</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1468-6244</ISSN><JournalIssue CitedMedium="Internet"><Volume>52</Volume><Issue>4</Issue><PubDate><Year>2015</Year><Month>Apr</Month></PubDate></JournalIssue><Title>Journal of medical genetics</Title><ISOAbbreviation>J. Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>BRCA1 Circos: a visualisation resource for functional analysis of missense variants.</ArticleTitle><Pagination><MedlinePgn>224-30</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1136/jmedgenet-2014-102766</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a significantly increased risk of developing breast and ovarian cancer. A large number (>1500) of unique BRCA1 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.</AbstractText><AbstractText Label="METHODS AND RESULTS" NlmCategory="RESULTS">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 (http://research.nhgri.nih.gov/bic/circos/) 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.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">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.</AbstractText><CopyrightInformation>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Jhuraney</LastName><ForeName>Ankita</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA University of South Florida Cancer Biology PhD Program, Tampa, Florida, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Velkova</LastName><ForeName>Aneliya</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Johnson</LastName><ForeName>Randall C</ForeName><Initials>RC</Initials><AffiliationInfo><Affiliation>Frederick National Laboratory for Cancer Research, National Cancer Institute, Fredrick, Maryland, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kessing</LastName><ForeName>Bailey</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Frederick National Laboratory for Cancer Research, National Cancer Institute, Fredrick, Maryland, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Carvalho</LastName><ForeName>Renato S</ForeName><Initials>RS</Initials><AffiliationInfo><Affiliation>Instituto Federal de Educação, Ciência e Tecnologia, Rio de Janeiro, RJ, Brazil Instituto Nacional de Câncer, Divisão de Farmacologia, Rio de Janeiro, Brazil.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Whiley</LastName><ForeName>Phillip</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Genetics and Population Health Division, QIMR, BNE, Brisbane, Queensland, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Spurdle</LastName><ForeName>Amanda B</ForeName><Initials>AB</Initials><AffiliationInfo><Affiliation>Genetics and Population Health Division, QIMR, BNE, Brisbane, Queensland, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vreeswijk</LastName><ForeName>Maaike P G</ForeName><Initials>MP</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Caputo</LastName><ForeName>Sandrine M</ForeName><Initials>SM</Initials><AffiliationInfo><Affiliation>Service de Génétique, Institut Curie, Hôpital René Huguenin, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Millot</LastName><ForeName>Gael A</ForeName><Initials>GA</Initials><AffiliationInfo><Affiliation>Institut Curie, Université Pierre et Marie Curie, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vega</LastName><ForeName>Ana</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Fundación Pública Galega de Medicina Xenómica, Santiago, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Coquelle</LastName><ForeName>Nicolas</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Department of Biochemistry, University of Alberta, Alberta, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Galli</LastName><ForeName>Alvaro</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Instituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche, Pisa, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Eccles</LastName><ForeName>Diana</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>University of Southampton, Southampton, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Blok</LastName><ForeName>Marinus J</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pal</LastName><ForeName>Tuya</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van der Luijt</LastName><ForeName>Rob B</ForeName><Initials>RB</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Santamariña Pena</LastName><ForeName>Marta</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>CIBERER, Madrid, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Neuhausen</LastName><ForeName>Susan L</ForeName><Initials>SL</Initials><AffiliationInfo><Affiliation>Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Donenberg</LastName><ForeName>Talia</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>University of Miami Medical School, Miami, Florida, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Machackova</LastName><ForeName>Eva</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thomas</LastName><ForeName>Simon</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Salisbury District Hospital, Salisbury, Wiltshire, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vallée</LastName><ForeName>Maxime</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>International Agency for Research on Cancer, Lyon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Couch</LastName><ForeName>Fergus J</ForeName><Initials>FJ</Initials><AffiliationInfo><Affiliation>Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tavtigian</LastName><ForeName>Sean V</ForeName><Initials>SV</Initials><AffiliationInfo><Affiliation>Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Glover</LastName><ForeName>J N Mark</ForeName><Initials>JN</Initials><AffiliationInfo><Affiliation>Department of Biochemistry, University of Alberta, Alberta, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Carvalho</LastName><ForeName>Marcelo A</ForeName><Initials>MA</Initials><AffiliationInfo><Affiliation>Instituto Federal de Educação, Ciência e Tecnologia, Rio de Janeiro, RJ, Brazil Instituto Nacional de Câncer, Divisão de Farmacologia, Rio de Janeiro, Brazil.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brody</LastName><ForeName>Lawrence C</ForeName><Initials>LC</Initials><AffiliationInfo><Affiliation>Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sharan</LastName><ForeName>Shyam K</ForeName><Initials>SK</Initials><AffiliationInfo><Affiliation>Center for Cancer Research, National Cancer Institute, Frederick, Maryland, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Monteiro</LastName><ForeName>Alvaro N</ForeName><Initials>AN</Initials><AffiliationInfo><Affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium</CollectiveName></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R25 CA174664</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U01 CA116167</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P30 CA076292</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>CA116167</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 CA116167</GrantID><Acronym>CA</Acronym><Agency>NCI 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>2015</Year><Month>02</Month><Day>02</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>J Med Genet</MedlineTA><NlmUniqueID>2985087R</NlmUniqueID><ISSNLinking>0022-2593</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D019313">BRCA1 Protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C492913">BRCA1 protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Science. 2012 Jul 6;337(6090):64-9</RefSource><PMID 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MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D019295" MajorTopicYN="N">Computational Biology</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003196" MajorTopicYN="Y">Computer Graphics</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003628" MajorTopicYN="N">Database Management Systems</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D030541" MajorTopicYN="N">Databases, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D066264" MajorTopicYN="N">Datasets as Topic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005820" MajorTopicYN="N">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020407" MajorTopicYN="Y">Internet</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="Y">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010051" MajorTopicYN="N">Ovarian Neoplasms</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012984" MajorTopicYN="Y">Software</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC4392196</OtherID><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">BRCA1</Keyword><Keyword MajorTopicYN="N">Cancer: breast</Keyword><Keyword MajorTopicYN="N">Clinical genetics</Keyword><Keyword MajorTopicYN="N">Molecular genetics</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>2</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>2</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>12</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25643705</ArticleId><ArticleId IdType="pii">jmedgenet-2014-102766</ArticleId><ArticleId IdType="doi">10.1136/jmedgenet-2014-102766</ArticleId><ArticleId IdType="pmc">PMC4392196</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li><li>Brésil</li><li>Canada</li><li>Espagne</li><li>France</li><li>Italie</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>République tchèque</li><li>États-Unis</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Californie</li><li>Communauté de Madrid</li><li>Floride</li><li>Hollande-Méridionale</li><li>Maryland</li><li>Minnesota</li><li>Moravie</li><li>Rhône-Alpes</li><li>Toscane</li><li>Utah</li><li>Utrecht (province)</li><li>État de Rio de Janeiro</li><li>Île-de-France</li></region><settlement><li>Brno</li><li>Leyde</li><li>Lyon</li><li>Madrid</li><li>Paris</li><li>Pise</li><li>Rio de Janeiro</li><li>Utrecht</li></settlement><orgName><li>Université Pierre-et-Marie-Curie</li></orgName></list><tree><country name="États-Unis"><region name="Floride"><name sortKey="Jhuraney, Ankita" sort="Jhuraney, Ankita" uniqKey="Jhuraney A" first="Ankita" last="Jhuraney">Ankita Jhuraney</name></region><name sortKey="Brody, Lawrence C" sort="Brody, Lawrence C" uniqKey="Brody L" first="Lawrence C" last="Brody">Lawrence C. Brody</name><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J" last="Couch">Fergus J. Couch</name><name sortKey="Donenberg, Talia" sort="Donenberg, Talia" uniqKey="Donenberg T" first="Talia" last="Donenberg">Talia Donenberg</name><name sortKey="Johnson, Randall C" sort="Johnson, Randall C" uniqKey="Johnson R" first="Randall C" last="Johnson">Randall C. Johnson</name><name sortKey="Kessing, Bailey" sort="Kessing, Bailey" uniqKey="Kessing B" first="Bailey" last="Kessing">Bailey Kessing</name><name sortKey="Monteiro, Alvaro N" sort="Monteiro, Alvaro N" uniqKey="Monteiro A" first="Alvaro N" last="Monteiro">Alvaro N. Monteiro</name><name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L" last="Neuhausen">Susan L. Neuhausen</name><name sortKey="Pal, Tuya" sort="Pal, Tuya" uniqKey="Pal T" first="Tuya" last="Pal">Tuya Pal</name><name sortKey="Sharan, Shyam K" sort="Sharan, Shyam K" uniqKey="Sharan S" first="Shyam K" last="Sharan">Shyam K. Sharan</name><name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V" last="Tavtigian">Sean V. Tavtigian</name><name sortKey="Velkova, Aneliya" sort="Velkova, Aneliya" uniqKey="Velkova A" first="Aneliya" last="Velkova">Aneliya Velkova</name></country><country name="Brésil"><region name="État de Rio de Janeiro"><name sortKey="Carvalho, Renato S" sort="Carvalho, Renato S" uniqKey="Carvalho R" first="Renato S" last="Carvalho">Renato S. Carvalho</name></region><name sortKey="Carvalho, Marcelo A" sort="Carvalho, Marcelo A" uniqKey="Carvalho M" first="Marcelo A" last="Carvalho">Marcelo A. Carvalho</name></country><country name="Australie"><noRegion><name sortKey="Whiley, Phillip" sort="Whiley, Phillip" uniqKey="Whiley P" first="Phillip" last="Whiley">Phillip Whiley</name></noRegion><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B" last="Spurdle">Amanda B. Spurdle</name></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><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></region><name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J" last="Blok">Marinus J. Blok</name><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></country><country name="France"><region name="Île-de-France"><name sortKey="Caputo, Sandrine M" sort="Caputo, Sandrine M" uniqKey="Caputo S" first="Sandrine M" last="Caputo">Sandrine M. Caputo</name></region><name sortKey="Millot, Gael A" sort="Millot, Gael A" uniqKey="Millot G" first="Gael A" last="Millot">Gael A. Millot</name><name sortKey="Vallee, Maxime" sort="Vallee, Maxime" uniqKey="Vallee M" first="Maxime" last="Vallée">Maxime Vallée</name></country><country name="Espagne"><noRegion><name sortKey="Vega, Ana" sort="Vega, Ana" uniqKey="Vega A" first="Ana" last="Vega">Ana Vega</name></noRegion><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></country><country name="Canada"><noRegion><name sortKey="Coquelle, Nicolas" sort="Coquelle, Nicolas" uniqKey="Coquelle N" first="Nicolas" last="Coquelle">Nicolas Coquelle</name></noRegion><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></country><country name="Italie"><region name="Toscane"><name sortKey="Galli, Alvaro" sort="Galli, Alvaro" uniqKey="Galli A" first="Alvaro" last="Galli">Alvaro Galli</name></region></country><country name="Royaume-Uni"><noRegion><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name></noRegion><name sortKey="Thomas, Simon" sort="Thomas, Simon" uniqKey="Thomas S" first="Simon" last="Thomas">Simon Thomas</name></country><country name="République tchèque"><region name="Moravie"><name sortKey="Machackova, Eva" sort="Machackova, Eva" uniqKey="Machackova E" first="Eva" last="Machackova">Eva Machackova</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
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