BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
Identifieur interne : 002E56 ( PubMed/Corpus ); précédent : 002E55; suivant : 002E57BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
Auteurs : Ankita Jhuraney ; Aneliya Velkova ; Randall C. Johnson ; Bailey Kessing ; Renato S. Carvalho ; Phillip Whiley ; Amanda B. Spurdle ; Maaike P G. Vreeswijk ; Sandrine M. Caputo ; Gael A. Millot ; Ana Vega ; Nicolas Coquelle ; Alvaro Galli ; Diana Eccles ; Marinus J. Blok ; Tuya Pal ; Rob B. Van Der Luijt ; Marta Santamari A Pena ; Susan L. Neuhausen ; Talia Donenberg ; Eva Machackova ; Simon Thomas ; Maxime Vallée ; Fergus J. Couch ; Sean V. Tavtigian ; J N Mark Glover ; Marcelo A. Carvalho ; Lawrence C. Brody ; Shyam K. Sharan ; Alvaro N. MonteiroSource :
- Journal of medical genetics [ 1468-6244 ] ; 2015.
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
Links to Exploration step
pubmed:25643705Le document en format XML
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Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.</nlm:affiliation></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><nlm:affiliation>Frederick National Laboratory for Cancer Research, National Cancer Institute, Fredrick, Maryland, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Kessing, Bailey" sort="Kessing, Bailey" uniqKey="Kessing B" first="Bailey" last="Kessing">Bailey Kessing</name><affiliation><nlm:affiliation>Frederick National Laboratory for Cancer Research, National Cancer Institute, Fredrick, Maryland, USA.</nlm:affiliation></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><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></affiliation></author><author><name sortKey="Whiley, Phillip" sort="Whiley, Phillip" uniqKey="Whiley P" first="Phillip" last="Whiley">Phillip Whiley</name><affiliation><nlm:affiliation>Genetics and Population Health Division, QIMR, BNE, Brisbane, Queensland, Australia.</nlm:affiliation></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><nlm:affiliation>Genetics and Population Health Division, QIMR, BNE, Brisbane, Queensland, Australia.</nlm:affiliation></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:affiliation>Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.</nlm:affiliation></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><nlm:affiliation>Service de Génétique, Institut Curie, Hôpital René Huguenin, Paris, France.</nlm:affiliation></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><nlm:affiliation>Institut Curie, Université Pierre et Marie Curie, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Vega, Ana" sort="Vega, Ana" uniqKey="Vega A" first="Ana" last="Vega">Ana Vega</name><affiliation><nlm:affiliation>Fundación Pública Galega de Medicina Xenómica, Santiago, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Coquelle, Nicolas" sort="Coquelle, Nicolas" uniqKey="Coquelle N" first="Nicolas" last="Coquelle">Nicolas Coquelle</name><affiliation><nlm:affiliation>Department of Biochemistry, University of Alberta, Alberta, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Galli, Alvaro" sort="Galli, Alvaro" uniqKey="Galli A" first="Alvaro" last="Galli">Alvaro Galli</name><affiliation><nlm:affiliation>Instituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche, Pisa, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name><affiliation><nlm:affiliation>University of Southampton, Southampton, UK.</nlm:affiliation></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:affiliation>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Pal, Tuya" sort="Pal, Tuya" uniqKey="Pal T" first="Tuya" last="Pal">Tuya Pal</name><affiliation><nlm:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.</nlm:affiliation></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:affiliation>Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.</nlm:affiliation></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><nlm:affiliation>CIBERER, Madrid, Spain.</nlm:affiliation></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><nlm:affiliation>Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Donenberg, Talia" sort="Donenberg, Talia" uniqKey="Donenberg T" first="Talia" last="Donenberg">Talia Donenberg</name><affiliation><nlm:affiliation>University of Miami Medical School, Miami, Florida, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Machackova, Eva" sort="Machackova, Eva" uniqKey="Machackova E" first="Eva" last="Machackova">Eva Machackova</name><affiliation><nlm:affiliation>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.</nlm:affiliation></affiliation></author><author><name sortKey="Thomas, Simon" sort="Thomas, Simon" uniqKey="Thomas S" first="Simon" last="Thomas">Simon Thomas</name><affiliation><nlm:affiliation>Salisbury District Hospital, Salisbury, Wiltshire, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Vallee, Maxime" sort="Vallee, Maxime" uniqKey="Vallee M" first="Maxime" last="Vallée">Maxime Vallée</name><affiliation><nlm:affiliation>International Agency for Research on Cancer, Lyon, France.</nlm:affiliation></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><nlm:affiliation>Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.</nlm:affiliation></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><nlm:affiliation>Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.</nlm:affiliation></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><nlm:affiliation>Department of Biochemistry, University of Alberta, Alberta, Canada.</nlm:affiliation></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><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></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><nlm:affiliation>Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.</nlm:affiliation></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><nlm:affiliation>Center for Cancer Research, National Cancer Institute, Frederick, Maryland, USA.</nlm:affiliation></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><nlm:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.</nlm:affiliation></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></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><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></affiliation></author><author><name sortKey="Velkova, Aneliya" sort="Velkova, Aneliya" uniqKey="Velkova A" first="Aneliya" last="Velkova">Aneliya Velkova</name><affiliation><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></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><nlm:affiliation>Frederick National Laboratory for Cancer Research, National Cancer Institute, Fredrick, Maryland, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Kessing, Bailey" sort="Kessing, Bailey" uniqKey="Kessing B" first="Bailey" last="Kessing">Bailey Kessing</name><affiliation><nlm:affiliation>Frederick National Laboratory for Cancer Research, National Cancer Institute, Fredrick, Maryland, USA.</nlm:affiliation></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><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></affiliation></author><author><name sortKey="Whiley, Phillip" sort="Whiley, Phillip" uniqKey="Whiley P" first="Phillip" last="Whiley">Phillip Whiley</name><affiliation><nlm:affiliation>Genetics and Population Health Division, QIMR, BNE, Brisbane, Queensland, Australia.</nlm:affiliation></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><nlm:affiliation>Genetics and Population Health Division, QIMR, BNE, Brisbane, Queensland, Australia.</nlm:affiliation></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:affiliation>Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.</nlm:affiliation></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><nlm:affiliation>Service de Génétique, Institut Curie, Hôpital René Huguenin, Paris, France.</nlm:affiliation></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><nlm:affiliation>Institut Curie, Université Pierre et Marie Curie, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Vega, Ana" sort="Vega, Ana" uniqKey="Vega A" first="Ana" last="Vega">Ana Vega</name><affiliation><nlm:affiliation>Fundación Pública Galega de Medicina Xenómica, Santiago, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Coquelle, Nicolas" sort="Coquelle, Nicolas" uniqKey="Coquelle N" first="Nicolas" last="Coquelle">Nicolas Coquelle</name><affiliation><nlm:affiliation>Department of Biochemistry, University of Alberta, Alberta, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Galli, Alvaro" sort="Galli, Alvaro" uniqKey="Galli A" first="Alvaro" last="Galli">Alvaro Galli</name><affiliation><nlm:affiliation>Instituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche, Pisa, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name><affiliation><nlm:affiliation>University of Southampton, Southampton, UK.</nlm:affiliation></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:affiliation>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Pal, Tuya" sort="Pal, Tuya" uniqKey="Pal T" first="Tuya" last="Pal">Tuya Pal</name><affiliation><nlm:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.</nlm:affiliation></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:affiliation>Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.</nlm:affiliation></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><nlm:affiliation>CIBERER, Madrid, Spain.</nlm:affiliation></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><nlm:affiliation>Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Donenberg, Talia" sort="Donenberg, Talia" uniqKey="Donenberg T" first="Talia" last="Donenberg">Talia Donenberg</name><affiliation><nlm:affiliation>University of Miami Medical School, Miami, Florida, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Machackova, Eva" sort="Machackova, Eva" uniqKey="Machackova E" first="Eva" last="Machackova">Eva Machackova</name><affiliation><nlm:affiliation>Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.</nlm:affiliation></affiliation></author><author><name sortKey="Thomas, Simon" sort="Thomas, Simon" uniqKey="Thomas S" first="Simon" last="Thomas">Simon Thomas</name><affiliation><nlm:affiliation>Salisbury District Hospital, Salisbury, Wiltshire, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Vallee, Maxime" sort="Vallee, Maxime" uniqKey="Vallee M" first="Maxime" last="Vallée">Maxime Vallée</name><affiliation><nlm:affiliation>International Agency for Research on Cancer, Lyon, France.</nlm:affiliation></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><nlm:affiliation>Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.</nlm:affiliation></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><nlm:affiliation>Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.</nlm:affiliation></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><nlm:affiliation>Department of Biochemistry, University of Alberta, Alberta, Canada.</nlm:affiliation></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><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></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><nlm:affiliation>Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.</nlm:affiliation></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><nlm:affiliation>Center for Cancer Research, National Cancer Institute, Frederick, Maryland, USA.</nlm:affiliation></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><nlm:affiliation>Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.</nlm:affiliation></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="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="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></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 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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></record>Pour manipuler ce document sous Unix (Dilib)
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