Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Identifieur interne : 003B05 ( Main/Exploration ); précédent : 003B04; suivant : 003B06Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Auteurs : Mara Colombo [Italie] ; Marinus J. Blok [Pays-Bas] ; Phillip Whiley [Australie] ; Marta Santamari A [Espagne] ; Sara Gutiérrez-Enríquez ; Atocha Romero [Espagne] ; Pilar Garre [Espagne] ; Alexandra Becker [Allemagne] ; Lindsay Denise Smith [Royaume-Uni] ; Giovanna De Vecchi [Italie] ; Rita D. Brandão [Pays-Bas] ; Demis Tserpelis [Pays-Bas] ; Melissa Brown [Australie] ; Ana Blanco [Espagne] ; Sandra Bonache [Espagne] ; Mireia Menéndez [Espagne] ; Claude Houdayer [France] ; Claudia Foglia [Italie] ; James D. Fackenthal [États-Unis] ; Diana Baralle [Royaume-Uni] ; Barbara Wappenschmidt [Allemagne] ; Eduardo Díaz-Rubio [Espagne] ; Trinidad Caldés [Espagne] ; Logan Walker [Nouvelle-Zélande] ; Orland Díez [Espagne] ; Ana Vega [Espagne] ; Amanda B. Spurdle [Australie] ; Paolo Radice [Italie] ; Miguel De La Hoya [Oman]Source :
- Human molecular genetics [ 1460-2083 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
- analyse : ARN messager.
- génétique : Isoformes de protéines, Protéine BRCA1.
- métabolisme : Région mammaire.
- sang : Protéine BRCA1.
- Analyse de séquence d'ARN, Femelle, Humains, RT-PCR, Épissage alternatif.
English descriptors
- KwdEn :
- MESH :
- chemical , analysis : RNA, Messenger.
- chemical , blood : BRCA1 Protein.
- chemical , genetics : BRCA1 Protein, Protein Isoforms.
- metabolism : Breast.
- Alternative Splicing, Female, Humans, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, RNA.
Abstract
Loss-of-function germline mutations in BRCA1 (MIM #113705) confer markedly increased risk of breast and ovarian cancer. The full-length transcript codifies for a protein involved in DNA repair pathways and cell-cycle checkpoints. Several BRCA1 splicing isoforms have been described in public domain databases, but the physiological role (if any) of BRCA1 alternative splicing remains to be established. An accurate description of 'naturally occurring' alternative splicing at this locus is a prerequisite to understand its biological significance. However, a systematic analysis of alternative splicing at the BRCA1 locus is yet to be conducted. Here, the Evidence-Based Network for the Interpretation of Germ-Line Mutant Alleles consortium combines RT-PCR, exon scanning, cloning, sequencing and relative semi-quantification to describe naturally occurring BRCA1 alternative splicing with unprecedented resolution. The study has been conducted in blood-related RNA sources, commonly used for clinical splicing assays, as well as in one healthy breast tissue. We have characterized a total of 63 BRCA1 alternative splicing events, including 35 novel findings. A minimum of 10 splicing events (Δ1Aq, Δ5, Δ5q, Δ8p, Δ9, Δ(9,10), Δ9_11, Δ11q, Δ13p and Δ14p) represent a substantial fraction of the full-length expression level (ranging from 5 to 100%). Remarkably, our data indicate that BRCA1 alternative splicing is similar in blood and breast, a finding supporting the clinical relevance of blood-based in vitro splicing assays. Overall, our data suggest an alternative splicing model in which most non-mutually exclusive alternative splicing events are randomly combined into individual mRNA molecules to produce hundreds of different BRCA1 isoforms.
DOI: 10.1093/hmg/ddu075
PubMed: 24569164
Affiliations:
- Allemagne, Australie, Espagne, France, Italie, Nouvelle-Zélande, Oman, Pays-Bas, Royaume-Uni, États-Unis
- Catalogne, Communauté de Madrid, Illinois, Île-de-France
- Barcelone, Madrid, Paris
- Université Paris-Descartes
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Le document en format XML
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Pilar" uniqKey="Garre P" first="Pilar" last="Garre">Pilar Garre</name><affiliation wicri:level="3"><nlm:affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Becker, Alexandra" sort="Becker, Alexandra" uniqKey="Becker A" first="Alexandra" last="Becker">Alexandra Becker</name><affiliation wicri:level="1"><nlm:affiliation>Center of Familial Breast and Ovarian Cancer, University Hospital Cologne, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center of Familial Breast and Ovarian Cancer, University Hospital Cologne, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Smith, Lindsay Denise" sort="Smith, Lindsay Denise" uniqKey="Smith L" first="Lindsay Denise" last="Smith">Lindsay Denise Smith</name><affiliation wicri:level="1"><nlm:affiliation>Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="De Vecchi, Giovanna" sort="De Vecchi, Giovanna" uniqKey="De Vecchi G" first="Giovanna" last="De Vecchi">Giovanna De Vecchi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Brandao, Rita D" sort="Brandao, Rita D" uniqKey="Brandao R" first="Rita D" last="Brandão">Rita D. Brandão</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Tserpelis, Demis" sort="Tserpelis, Demis" uniqKey="Tserpelis D" first="Demis" last="Tserpelis">Demis Tserpelis</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Brown, Melissa" sort="Brown, Melissa" uniqKey="Brown M" first="Melissa" last="Brown">Melissa Brown</name><affiliation wicri:level="1"><nlm:affiliation>School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Blanco, Ana" sort="Blanco, Ana" uniqKey="Blanco A" first="Ana" last="Blanco">Ana Blanco</name><affiliation wicri:level="1"><nlm:affiliation>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela</wicri:regionArea><wicri:noRegion>Santiago de Compostela</wicri:noRegion></affiliation></author><author><name sortKey="Bonache, Sandra" sort="Bonache, Sandra" uniqKey="Bonache S" first="Sandra" last="Bonache">Sandra Bonache</name><affiliation wicri:level="3"><nlm:affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Oncogenetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Oncogenetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autonoma de Barcelona, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Menendez, Mireia" sort="Menendez, Mireia" uniqKey="Menendez M" first="Mireia" last="Menéndez">Mireia Menéndez</name><affiliation wicri:level="3"><nlm:affiliation>Genetic Diagnosis Unit, Hereditary Cancer Program, Institut Català d'Oncologia, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Genetic Diagnosis Unit, Hereditary Cancer Program, Institut Català d'Oncologia, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name><affiliation wicri:level="4"><nlm:affiliation>Service de Génétique and INSERM U830, Institut Curie and Université Paris Descartes, Sorbonne Paris Cité, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique and INSERM U830, Institut Curie and Université Paris Descartes, Sorbonne Paris Cité, 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 Paris-Descartes</orgName></affiliation></author><author><name sortKey="Foglia, Claudia" sort="Foglia, Claudia" uniqKey="Foglia C" first="Claudia" last="Foglia">Claudia Foglia</name><affiliation wicri:level="1"><nlm:affiliation>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Fackenthal, James D" sort="Fackenthal, James D" uniqKey="Fackenthal J" first="James D" last="Fackenthal">James D. Fackenthal</name><affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, The University of Chicago Medical Center, Chicago, IL, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, The University of Chicago Medical Center, Chicago, IL</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Baralle, Diana" sort="Baralle, Diana" uniqKey="Baralle D" first="Diana" last="Baralle">Diana Baralle</name><affiliation wicri:level="1"><nlm:affiliation>Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation wicri:level="1"><nlm:affiliation>Center of Familial Breast and Ovarian Cancer, University Hospital Cologne, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center of Familial Breast and Ovarian Cancer, University Hospital Cologne, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Diaz Rubio, Eduardo" sort="Diaz Rubio, Eduardo" uniqKey="Diaz Rubio E" first="Eduardo" last="Díaz-Rubio">Eduardo Díaz-Rubio</name><affiliation wicri:level="3"><nlm:affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain, Servicio de Oncología Médica, Hospital Clínico San Carlos, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain, Servicio de Oncología Médica, Hospital Clínico San Carlos, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Caldes, Trinidad" sort="Caldes, Trinidad" uniqKey="Caldes T" first="Trinidad" last="Caldés">Trinidad Caldés</name><affiliation wicri:level="3"><nlm:affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Walker, Logan" sort="Walker, Logan" uniqKey="Walker L" first="Logan" last="Walker">Logan Walker</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, University of Otago, Christchurch, New Zealand.</nlm:affiliation><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Department of Pathology, University of Otago, Christchurch</wicri:regionArea><wicri:noRegion>Christchurch</wicri:noRegion></affiliation></author><author><name sortKey="Diez, Orland" sort="Diez, Orland" uniqKey="Diez O" first="Orland" last="Díez">Orland Díez</name><affiliation wicri:level="3"><nlm:affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Oncogenetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain, Oncogenetics Group, University Hospital of Vall d'Hebron, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Oncogenetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain, Oncogenetics Group, University Hospital of Vall d'Hebron, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></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-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela</wicri:regionArea><wicri:noRegion>Santiago de Compostela</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>Molecular Cancer Epidemiology Laboratory, Genetics and Computational Division, QIMR Berghofer Medical Research Institute, Brisbane, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Molecular Cancer Epidemiology Laboratory, Genetics and Computational Division, QIMR Berghofer Medical Research Institute, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation wicri:level="1"><nlm:affiliation>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="De La Hoya, Miguel" sort="De La Hoya, Miguel" uniqKey="De La Hoya M" first="Miguel" last="De La Hoya">Miguel De La Hoya</name><affiliation wicri:level="1"><nlm:affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain, mhoya@hotmail.com mdhoya@hotmail.com.</nlm:affiliation><country wicri:rule="url">Oman</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24569164</idno><idno type="pmid">24569164</idno><idno type="doi">10.1093/hmg/ddu075</idno><idno type="wicri:Area/PubMed/Corpus">003678</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003678</idno><idno type="wicri:Area/PubMed/Curation">003565</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003565</idno><idno type="wicri:Area/PubMed/Checkpoint">003565</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003565</idno><idno type="wicri:Area/Ncbi/Merge">001813</idno><idno type="wicri:Area/Ncbi/Curation">001813</idno><idno type="wicri:Area/Ncbi/Checkpoint">001813</idno><idno type="wicri:Area/Main/Merge">003B52</idno><idno type="wicri:Area/Main/Curation">003B05</idno><idno type="wicri:Area/Main/Exploration">003B05</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.</title><author><name sortKey="Colombo, Mara" sort="Colombo, Mara" uniqKey="Colombo M" first="Mara" last="Colombo">Mara Colombo</name><affiliation wicri:level="1"><nlm:affiliation>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano</wicri:regionArea><wicri:noRegion>Milano</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 Center, Maastricht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></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>Molecular Cancer Epidemiology Laboratory, Genetics and Computational Division, QIMR Berghofer Medical Research Institute, Brisbane, Australia, School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Molecular Cancer Epidemiology Laboratory, Genetics and Computational Division, QIMR Berghofer Medical Research Institute, Brisbane, Australia, School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Santamari A, Marta" sort="Santamari A, Marta" uniqKey="Santamari A M" first="Marta" last="Santamari A">Marta Santamari A</name><affiliation wicri:level="1"><nlm:affiliation>Grupo de Medicina Xenómica-USC, Universidad de Santiago de Compostela, CIBERER, IDIS, Santiago de Compostela, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Grupo de Medicina Xenómica-USC, Universidad de Santiago de Compostela, CIBERER, IDIS, Santiago de Compostela</wicri:regionArea><wicri:noRegion>Santiago de Compostela</wicri:noRegion></affiliation></author><author><name sortKey="Gutierrez Enriquez, Sara" sort="Gutierrez Enriquez, Sara" uniqKey="Gutierrez Enriquez S" first="Sara" last="Gutiérrez-Enríquez">Sara Gutiérrez-Enríquez</name><affiliation><nlm:affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and.</nlm:affiliation><wicri:noCountry code="subField">Vall d'Hebron Institute of Oncology (VHIO) and</wicri:noCountry></affiliation></author><author><name sortKey="Romero, Atocha" sort="Romero, Atocha" uniqKey="Romero A" first="Atocha" last="Romero">Atocha Romero</name><affiliation wicri:level="3"><nlm:affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Garre, Pilar" sort="Garre, Pilar" uniqKey="Garre P" first="Pilar" last="Garre">Pilar Garre</name><affiliation wicri:level="3"><nlm:affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Becker, Alexandra" sort="Becker, Alexandra" uniqKey="Becker A" first="Alexandra" last="Becker">Alexandra Becker</name><affiliation wicri:level="1"><nlm:affiliation>Center of Familial Breast and Ovarian Cancer, University Hospital Cologne, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center of Familial Breast and Ovarian Cancer, University Hospital Cologne, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Smith, Lindsay Denise" sort="Smith, Lindsay Denise" uniqKey="Smith L" first="Lindsay Denise" last="Smith">Lindsay Denise Smith</name><affiliation wicri:level="1"><nlm:affiliation>Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="De Vecchi, Giovanna" sort="De Vecchi, Giovanna" uniqKey="De Vecchi G" first="Giovanna" last="De Vecchi">Giovanna De Vecchi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Brandao, Rita D" sort="Brandao, Rita D" uniqKey="Brandao R" first="Rita D" last="Brandão">Rita D. Brandão</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Tserpelis, Demis" sort="Tserpelis, Demis" uniqKey="Tserpelis D" first="Demis" last="Tserpelis">Demis Tserpelis</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Brown, Melissa" sort="Brown, Melissa" uniqKey="Brown M" first="Melissa" last="Brown">Melissa Brown</name><affiliation wicri:level="1"><nlm:affiliation>School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Blanco, Ana" sort="Blanco, Ana" uniqKey="Blanco A" first="Ana" last="Blanco">Ana Blanco</name><affiliation wicri:level="1"><nlm:affiliation>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela</wicri:regionArea><wicri:noRegion>Santiago de Compostela</wicri:noRegion></affiliation></author><author><name sortKey="Bonache, Sandra" sort="Bonache, Sandra" uniqKey="Bonache S" first="Sandra" last="Bonache">Sandra Bonache</name><affiliation wicri:level="3"><nlm:affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Oncogenetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Oncogenetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autonoma de Barcelona, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Menendez, Mireia" sort="Menendez, Mireia" uniqKey="Menendez M" first="Mireia" last="Menéndez">Mireia Menéndez</name><affiliation wicri:level="3"><nlm:affiliation>Genetic Diagnosis Unit, Hereditary Cancer Program, Institut Català d'Oncologia, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Genetic Diagnosis Unit, Hereditary Cancer Program, Institut Català d'Oncologia, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name><affiliation wicri:level="4"><nlm:affiliation>Service de Génétique and INSERM U830, Institut Curie and Université Paris Descartes, Sorbonne Paris Cité, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique and INSERM U830, Institut Curie and Université Paris Descartes, Sorbonne Paris Cité, 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 Paris-Descartes</orgName></affiliation></author><author><name sortKey="Foglia, Claudia" sort="Foglia, Claudia" uniqKey="Foglia C" first="Claudia" last="Foglia">Claudia Foglia</name><affiliation wicri:level="1"><nlm:affiliation>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Fackenthal, James D" sort="Fackenthal, James D" uniqKey="Fackenthal J" first="James D" last="Fackenthal">James D. Fackenthal</name><affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, The University of Chicago Medical Center, Chicago, IL, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, The University of Chicago Medical Center, Chicago, IL</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Baralle, Diana" sort="Baralle, Diana" uniqKey="Baralle D" first="Diana" last="Baralle">Diana Baralle</name><affiliation wicri:level="1"><nlm:affiliation>Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation wicri:level="1"><nlm:affiliation>Center of Familial Breast and Ovarian Cancer, University Hospital Cologne, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center of Familial Breast and Ovarian Cancer, University Hospital Cologne, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Diaz Rubio, Eduardo" sort="Diaz Rubio, Eduardo" uniqKey="Diaz Rubio E" first="Eduardo" last="Díaz-Rubio">Eduardo Díaz-Rubio</name><affiliation wicri:level="3"><nlm:affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain, Servicio de Oncología Médica, Hospital Clínico San Carlos, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain, Servicio de Oncología Médica, Hospital Clínico San Carlos, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Caldes, Trinidad" sort="Caldes, Trinidad" uniqKey="Caldes T" first="Trinidad" last="Caldés">Trinidad Caldés</name><affiliation wicri:level="3"><nlm:affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Walker, Logan" sort="Walker, Logan" uniqKey="Walker L" first="Logan" last="Walker">Logan Walker</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, University of Otago, Christchurch, New Zealand.</nlm:affiliation><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Department of Pathology, University of Otago, Christchurch</wicri:regionArea><wicri:noRegion>Christchurch</wicri:noRegion></affiliation></author><author><name sortKey="Diez, Orland" sort="Diez, Orland" uniqKey="Diez O" first="Orland" last="Díez">Orland Díez</name><affiliation wicri:level="3"><nlm:affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Oncogenetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain, Oncogenetics Group, University Hospital of Vall d'Hebron, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Oncogenetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain, Oncogenetics Group, University Hospital of Vall d'Hebron, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></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-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela</wicri:regionArea><wicri:noRegion>Santiago de Compostela</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>Molecular Cancer Epidemiology Laboratory, Genetics and Computational Division, QIMR Berghofer Medical Research Institute, Brisbane, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Molecular Cancer Epidemiology Laboratory, Genetics and Computational Division, QIMR Berghofer Medical Research Institute, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation wicri:level="1"><nlm:affiliation>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="De La Hoya, Miguel" sort="De La Hoya, Miguel" uniqKey="De La Hoya M" first="Miguel" last="De La Hoya">Miguel De La Hoya</name><affiliation wicri:level="1"><nlm:affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain, mhoya@hotmail.com mdhoya@hotmail.com.</nlm:affiliation><country wicri:rule="url">Oman</country></affiliation></author></analytic><series><title level="j">Human molecular genetics</title><idno type="eISSN">1460-2083</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alternative Splicing</term><term>BRCA1 Protein (blood)</term><term>BRCA1 Protein (genetics)</term><term>Breast (metabolism)</term><term>Female</term><term>Humans</term><term>Protein Isoforms (genetics)</term><term>RNA, Messenger (analysis)</term><term>Reverse Transcriptase Polymerase Chain Reaction</term><term>Sequence Analysis, RNA</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>ARN messager (analyse)</term><term>Analyse de séquence d'ARN</term><term>Femelle</term><term>Humains</term><term>Isoformes de protéines (génétique)</term><term>Protéine BRCA1 (génétique)</term><term>Protéine BRCA1 (sang)</term><term>RT-PCR</term><term>Région mammaire (métabolisme)</term><term>Épissage alternatif</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>RNA, Messenger</term></keywords><keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>BRCA1 Protein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>BRCA1 Protein</term><term>Protein Isoforms</term></keywords><keywords scheme="MESH" qualifier="analyse" xml:lang="fr"><term>ARN messager</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Isoformes de protéines</term><term>Protéine BRCA1</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Breast</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Région mammaire</term></keywords><keywords scheme="MESH" qualifier="sang" xml:lang="fr"><term>Protéine BRCA1</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Alternative Splicing</term><term>Female</term><term>Humans</term><term>Reverse Transcriptase Polymerase Chain Reaction</term><term>Sequence Analysis, RNA</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Analyse de séquence d'ARN</term><term>Femelle</term><term>Humains</term><term>RT-PCR</term><term>Épissage alternatif</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Loss-of-function germline mutations in BRCA1 (MIM #113705) confer markedly increased risk of breast and ovarian cancer. The full-length transcript codifies for a protein involved in DNA repair pathways and cell-cycle checkpoints. Several BRCA1 splicing isoforms have been described in public domain databases, but the physiological role (if any) of BRCA1 alternative splicing remains to be established. An accurate description of 'naturally occurring' alternative splicing at this locus is a prerequisite to understand its biological significance. However, a systematic analysis of alternative splicing at the BRCA1 locus is yet to be conducted. Here, the Evidence-Based Network for the Interpretation of Germ-Line Mutant Alleles consortium combines RT-PCR, exon scanning, cloning, sequencing and relative semi-quantification to describe naturally occurring BRCA1 alternative splicing with unprecedented resolution. The study has been conducted in blood-related RNA sources, commonly used for clinical splicing assays, as well as in one healthy breast tissue. We have characterized a total of 63 BRCA1 alternative splicing events, including 35 novel findings. A minimum of 10 splicing events (Δ1Aq, Δ5, Δ5q, Δ8p, Δ9, Δ(9,10), Δ9_11, Δ11q, Δ13p and Δ14p) represent a substantial fraction of the full-length expression level (ranging from 5 to 100%). Remarkably, our data indicate that BRCA1 alternative splicing is similar in blood and breast, a finding supporting the clinical relevance of blood-based in vitro splicing assays. Overall, our data suggest an alternative splicing model in which most non-mutually exclusive alternative splicing events are randomly combined into individual mRNA molecules to produce hundreds of different BRCA1 isoforms.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Espagne</li><li>France</li><li>Italie</li><li>Nouvelle-Zélande</li><li>Oman</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Catalogne</li><li>Communauté de Madrid</li><li>Illinois</li><li>Île-de-France</li></region><settlement><li>Barcelone</li><li>Madrid</li><li>Paris</li></settlement><orgName><li>Université Paris-Descartes</li></orgName></list><tree><noCountry><name sortKey="Gutierrez Enriquez, Sara" sort="Gutierrez Enriquez, Sara" uniqKey="Gutierrez Enriquez S" first="Sara" last="Gutiérrez-Enríquez">Sara Gutiérrez-Enríquez</name></noCountry><country name="Italie"><noRegion><name sortKey="Colombo, Mara" sort="Colombo, Mara" uniqKey="Colombo M" first="Mara" last="Colombo">Mara Colombo</name></noRegion><name sortKey="De Vecchi, Giovanna" sort="De Vecchi, Giovanna" uniqKey="De Vecchi G" first="Giovanna" last="De Vecchi">Giovanna De Vecchi</name><name sortKey="Foglia, Claudia" sort="Foglia, Claudia" uniqKey="Foglia C" first="Claudia" last="Foglia">Claudia Foglia</name><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name></country><country name="Pays-Bas"><noRegion><name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J" last="Blok">Marinus J. Blok</name></noRegion><name sortKey="Brandao, Rita D" sort="Brandao, Rita D" uniqKey="Brandao R" first="Rita D" last="Brandão">Rita D. Brandão</name><name sortKey="Tserpelis, Demis" sort="Tserpelis, Demis" uniqKey="Tserpelis D" first="Demis" last="Tserpelis">Demis Tserpelis</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="Brown, Melissa" sort="Brown, Melissa" uniqKey="Brown M" first="Melissa" last="Brown">Melissa Brown</name><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B" last="Spurdle">Amanda B. Spurdle</name></country><country name="Espagne"><noRegion><name sortKey="Santamari A, Marta" sort="Santamari A, Marta" uniqKey="Santamari A M" first="Marta" last="Santamari A">Marta Santamari A</name></noRegion><name sortKey="Blanco, Ana" sort="Blanco, Ana" uniqKey="Blanco A" first="Ana" last="Blanco">Ana Blanco</name><name sortKey="Bonache, Sandra" sort="Bonache, Sandra" uniqKey="Bonache S" first="Sandra" last="Bonache">Sandra Bonache</name><name sortKey="Caldes, Trinidad" sort="Caldes, Trinidad" uniqKey="Caldes T" first="Trinidad" last="Caldés">Trinidad Caldés</name><name sortKey="Diaz Rubio, Eduardo" sort="Diaz Rubio, Eduardo" uniqKey="Diaz Rubio E" first="Eduardo" last="Díaz-Rubio">Eduardo Díaz-Rubio</name><name sortKey="Diez, Orland" sort="Diez, Orland" uniqKey="Diez O" first="Orland" last="Díez">Orland Díez</name><name sortKey="Garre, Pilar" sort="Garre, Pilar" uniqKey="Garre P" first="Pilar" last="Garre">Pilar Garre</name><name sortKey="Menendez, Mireia" sort="Menendez, Mireia" uniqKey="Menendez M" first="Mireia" last="Menéndez">Mireia Menéndez</name><name sortKey="Romero, Atocha" sort="Romero, Atocha" uniqKey="Romero A" first="Atocha" last="Romero">Atocha Romero</name><name sortKey="Vega, Ana" sort="Vega, Ana" uniqKey="Vega A" first="Ana" last="Vega">Ana Vega</name></country><country name="Allemagne"><noRegion><name sortKey="Becker, Alexandra" sort="Becker, Alexandra" uniqKey="Becker A" first="Alexandra" last="Becker">Alexandra Becker</name></noRegion><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Smith, Lindsay Denise" sort="Smith, Lindsay Denise" uniqKey="Smith L" first="Lindsay Denise" last="Smith">Lindsay Denise Smith</name></noRegion><name sortKey="Baralle, Diana" sort="Baralle, Diana" uniqKey="Baralle D" first="Diana" last="Baralle">Diana Baralle</name></country><country name="France"><region name="Île-de-France"><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name></region></country><country name="États-Unis"><region name="Illinois"><name sortKey="Fackenthal, James D" sort="Fackenthal, James D" uniqKey="Fackenthal J" first="James D" last="Fackenthal">James D. Fackenthal</name></region></country><country name="Nouvelle-Zélande"><noRegion><name sortKey="Walker, Logan" sort="Walker, Logan" uniqKey="Walker L" first="Logan" last="Walker">Logan Walker</name></noRegion></country><country name="Oman"><noRegion><name sortKey="De La Hoya, Miguel" sort="De La Hoya, Miguel" uniqKey="De La Hoya M" first="Miguel" last="De La Hoya">Miguel De La Hoya</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003B05 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003B05 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:24569164
|texte= Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:24569164" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |