Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
Identifieur interne : 001A64 ( PubMed/Corpus ); précédent : 001A63; suivant : 001A65Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
Auteurs : James D. Fackenthal ; Toshio Yoshimatsu ; Bifeng Zhang ; Gorka R. De Garibay ; Mara Colombo ; Giovanna De Vecchi ; Samantha C. Ayoub ; Kumar Lal ; Olufunmilayo I. Olopade ; Ana Vega ; Marta Santamari A ; Ana Blanco ; Barbara Wappenschmidt ; Alexandra Becker ; Claude Houdayer ; Logan C. Walker ; Irene L Pez-Perolio ; Mads Thomassen ; Michael Parsons ; Phillip Whiley ; Marinus J. Blok ; Rita D. Brandão ; Demis Tserpelis ; Diana Baralle ; Gemma Montalban ; Sara Gutiérrez-Enríquez ; Orland Díez ; Conxi Lazaro ; Amanda B. Spurdle ; Paolo Radice ; Miguel De La HoyaSource :
- Journal of medical genetics [ 1468-6244 ] ; 2016.
English descriptors
- KwdEn :
- Alternative Splicing (genetics), BRCA1 Protein (genetics), BRCA2 Protein (genetics), Breast Neoplasms (genetics), Cell Line, Cell Line, Tumor, Female, Genetic Predisposition to Disease (genetics), Genetic Testing (methods), Humans, MCF-7 Cells, Mutation (genetics), Ovarian Neoplasms (genetics), RNA Splice Sites (genetics), RNA, Messenger (genetics).
- MESH :
- chemical , genetics : BRCA1 Protein, BRCA2 Protein, RNA Splice Sites, RNA, Messenger.
- genetics : Alternative Splicing, Breast Neoplasms, Genetic Predisposition to Disease, Mutation, Ovarian Neoplasms.
- methods : Genetic Testing.
- Cell Line, Cell Line, Tumor, Female, Humans, MCF-7 Cells.
Abstract
BRCA1 and BRCA2 are the two principal tumour suppressor genes associated with inherited high risk of breast and ovarian cancer. Genetic testing of BRCA1/2 will often reveal one or more sequence variants of uncertain clinical significance, some of which may affect normal splicing patterns and thereby disrupt gene function. mRNA analyses are therefore among the tests used to interpret the clinical significance of some genetic variants. However, these could be confounded by the appearance of naturally occurring alternative transcripts unrelated to germline sequence variation or defects in gene function. To understand which novel splicing events are associated with splicing mutations and which are part of the normal BRCA2 splicing repertoire, a study was undertaken by members of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium to characterise the spectrum of naturally occurring BRCA2 mRNA alternate-splicing events.
DOI: 10.1136/jmedgenet-2015-103570
PubMed: 27060066
Links to Exploration step
pubmed:27060066Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.</title><author><name sortKey="Fackenthal, James D" sort="Fackenthal, James D" uniqKey="Fackenthal J" first="James D" last="Fackenthal">James D. Fackenthal</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Yoshimatsu, Toshio" sort="Yoshimatsu, Toshio" uniqKey="Yoshimatsu T" first="Toshio" last="Yoshimatsu">Toshio Yoshimatsu</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Bifeng" sort="Zhang, Bifeng" uniqKey="Zhang B" first="Bifeng" last="Zhang">Bifeng Zhang</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation></affiliation></author><author><name sortKey="De Garibay, Gorka R" sort="De Garibay, Gorka R" uniqKey="De Garibay G" first="Gorka R" last="De Garibay">Gorka R. De Garibay</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Colombo, Mara" sort="Colombo, Mara" uniqKey="Colombo M" first="Mara" last="Colombo">Mara Colombo</name><affiliation><nlm:affiliation>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy.</nlm:affiliation></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><nlm:affiliation>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Ayoub, Samantha C" sort="Ayoub, Samantha C" uniqKey="Ayoub S" first="Samantha C" last="Ayoub">Samantha C. Ayoub</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Lal, Kumar" sort="Lal, Kumar" uniqKey="Lal K" first="Kumar" last="Lal">Kumar Lal</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Olopade, Olufunmilayo I" sort="Olopade, Olufunmilayo I" uniqKey="Olopade O" first="Olufunmilayo I" last="Olopade">Olufunmilayo I. Olopade</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</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-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.</nlm:affiliation></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><nlm:affiliation>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Blanco, Ana" sort="Blanco, Ana" uniqKey="Blanco A" first="Ana" last="Blanco">Ana Blanco</name><affiliation><nlm:affiliation>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation><nlm:affiliation>Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), University of Cologne and University Hospital Cologne, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Becker, Alexandra" sort="Becker, Alexandra" uniqKey="Becker A" first="Alexandra" last="Becker">Alexandra Becker</name><affiliation><nlm:affiliation>Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), University of Cologne and University Hospital Cologne, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name><affiliation><nlm:affiliation>Service de Génétique and INSERM U830, Institut Curie and Université Paris Descartes, Sorbonne Paris Cité, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Walker, Logan C" sort="Walker, Logan C" uniqKey="Walker L" first="Logan C" last="Walker">Logan C. Walker</name><affiliation><nlm:affiliation>Department of Pathology, University of Otago, Christchurch, New Zealand.</nlm:affiliation></affiliation></author><author><name sortKey="L Pez Perolio, Irene" sort="L Pez Perolio, Irene" uniqKey="L Pez Perolio I" first="Irene" last="L Pez-Perolio">Irene L Pez-Perolio</name><affiliation><nlm:affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Thomassen, Mads" sort="Thomassen, Mads" uniqKey="Thomassen M" first="Mads" last="Thomassen">Mads Thomassen</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Parsons, Michael" sort="Parsons, Michael" uniqKey="Parsons M" first="Michael" last="Parsons">Michael Parsons</name><affiliation><nlm:affiliation>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</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 Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</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 Center, Maastricht, The Netherlands.</nlm:affiliation></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><nlm:affiliation>Maastricht Science Programme, Faculty of Humanities and Sciences, Maastricht University, Maastricht, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Tserpelis, Demis" sort="Tserpelis, Demis" uniqKey="Tserpelis D" first="Demis" last="Tserpelis">Demis Tserpelis</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Baralle, Diana" sort="Baralle, Diana" uniqKey="Baralle D" first="Diana" last="Baralle">Diana Baralle</name><affiliation><nlm:affiliation>Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Montalban, Gemma" sort="Montalban, Gemma" uniqKey="Montalban G" first="Gemma" last="Montalban">Gemma Montalban</name><affiliation><nlm:affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autonoma de Barcelona, Barcelona, Spain.</nlm:affiliation></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 Universitat Autonoma de Barcelona, Barcelona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Diez, Orland" sort="Diez, Orland" uniqKey="Diez O" first="Orland" last="Díez">Orland Díez</name><affiliation><nlm:affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autonoma de Barcelona, Barcelona, Spain Clinical and Molecular Genetics Area, University Hospital Vall d'Hebron, Barcelona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Lazaro, Conxi" sort="Lazaro, Conxi" uniqKey="Lazaro C" first="Conxi" last="Lazaro">Conxi Lazaro</name><affiliation><nlm:affiliation>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain.</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 Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:affiliation>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy.</nlm:affiliation></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><nlm:affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27060066</idno><idno type="pmid">27060066</idno><idno type="doi">10.1136/jmedgenet-2015-103570</idno><idno type="wicri:Area/PubMed/Corpus">001A64</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001A64</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.</title><author><name sortKey="Fackenthal, James D" sort="Fackenthal, James D" uniqKey="Fackenthal J" first="James D" last="Fackenthal">James D. Fackenthal</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Yoshimatsu, Toshio" sort="Yoshimatsu, Toshio" uniqKey="Yoshimatsu T" first="Toshio" last="Yoshimatsu">Toshio Yoshimatsu</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Bifeng" sort="Zhang, Bifeng" uniqKey="Zhang B" first="Bifeng" last="Zhang">Bifeng Zhang</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation></affiliation></author><author><name sortKey="De Garibay, Gorka R" sort="De Garibay, Gorka R" uniqKey="De Garibay G" first="Gorka R" last="De Garibay">Gorka R. De Garibay</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Colombo, Mara" sort="Colombo, Mara" uniqKey="Colombo M" first="Mara" last="Colombo">Mara Colombo</name><affiliation><nlm:affiliation>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy.</nlm:affiliation></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><nlm:affiliation>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Ayoub, Samantha C" sort="Ayoub, Samantha C" uniqKey="Ayoub S" first="Samantha C" last="Ayoub">Samantha C. Ayoub</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Lal, Kumar" sort="Lal, Kumar" uniqKey="Lal K" first="Kumar" last="Lal">Kumar Lal</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Olopade, Olufunmilayo I" sort="Olopade, Olufunmilayo I" uniqKey="Olopade O" first="Olufunmilayo I" last="Olopade">Olufunmilayo I. Olopade</name><affiliation><nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</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-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.</nlm:affiliation></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><nlm:affiliation>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Blanco, Ana" sort="Blanco, Ana" uniqKey="Blanco A" first="Ana" last="Blanco">Ana Blanco</name><affiliation><nlm:affiliation>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation><nlm:affiliation>Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), University of Cologne and University Hospital Cologne, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Becker, Alexandra" sort="Becker, Alexandra" uniqKey="Becker A" first="Alexandra" last="Becker">Alexandra Becker</name><affiliation><nlm:affiliation>Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), University of Cologne and University Hospital Cologne, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name><affiliation><nlm:affiliation>Service de Génétique and INSERM U830, Institut Curie and Université Paris Descartes, Sorbonne Paris Cité, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Walker, Logan C" sort="Walker, Logan C" uniqKey="Walker L" first="Logan C" last="Walker">Logan C. Walker</name><affiliation><nlm:affiliation>Department of Pathology, University of Otago, Christchurch, New Zealand.</nlm:affiliation></affiliation></author><author><name sortKey="L Pez Perolio, Irene" sort="L Pez Perolio, Irene" uniqKey="L Pez Perolio I" first="Irene" last="L Pez-Perolio">Irene L Pez-Perolio</name><affiliation><nlm:affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Thomassen, Mads" sort="Thomassen, Mads" uniqKey="Thomassen M" first="Mads" last="Thomassen">Mads Thomassen</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Parsons, Michael" sort="Parsons, Michael" uniqKey="Parsons M" first="Michael" last="Parsons">Michael Parsons</name><affiliation><nlm:affiliation>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</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 Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</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 Center, Maastricht, The Netherlands.</nlm:affiliation></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><nlm:affiliation>Maastricht Science Programme, Faculty of Humanities and Sciences, Maastricht University, Maastricht, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Tserpelis, Demis" sort="Tserpelis, Demis" uniqKey="Tserpelis D" first="Demis" last="Tserpelis">Demis Tserpelis</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Baralle, Diana" sort="Baralle, Diana" uniqKey="Baralle D" first="Diana" last="Baralle">Diana Baralle</name><affiliation><nlm:affiliation>Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Montalban, Gemma" sort="Montalban, Gemma" uniqKey="Montalban G" first="Gemma" last="Montalban">Gemma Montalban</name><affiliation><nlm:affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autonoma de Barcelona, Barcelona, Spain.</nlm:affiliation></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 Universitat Autonoma de Barcelona, Barcelona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Diez, Orland" sort="Diez, Orland" uniqKey="Diez O" first="Orland" last="Díez">Orland Díez</name><affiliation><nlm:affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autonoma de Barcelona, Barcelona, Spain Clinical and Molecular Genetics Area, University Hospital Vall d'Hebron, Barcelona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Lazaro, Conxi" sort="Lazaro, Conxi" uniqKey="Lazaro C" first="Conxi" last="Lazaro">Conxi Lazaro</name><affiliation><nlm:affiliation>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain.</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 Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:affiliation>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy.</nlm:affiliation></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><nlm:affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="eISSN">1468-6244</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alternative Splicing (genetics)</term><term>BRCA1 Protein (genetics)</term><term>BRCA2 Protein (genetics)</term><term>Breast Neoplasms (genetics)</term><term>Cell Line</term><term>Cell Line, Tumor</term><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genetic Testing (methods)</term><term>Humans</term><term>MCF-7 Cells</term><term>Mutation (genetics)</term><term>Ovarian Neoplasms (genetics)</term><term>RNA Splice Sites (genetics)</term><term>RNA, Messenger (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>BRCA1 Protein</term><term>BRCA2 Protein</term><term>RNA Splice Sites</term><term>RNA, Messenger</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Alternative Splicing</term><term>Breast Neoplasms</term><term>Genetic Predisposition to Disease</term><term>Mutation</term><term>Ovarian Neoplasms</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Cell Line</term><term>Cell Line, Tumor</term><term>Female</term><term>Humans</term><term>MCF-7 Cells</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">BRCA1 and BRCA2 are the two principal tumour suppressor genes associated with inherited high risk of breast and ovarian cancer. Genetic testing of BRCA1/2 will often reveal one or more sequence variants of uncertain clinical significance, some of which may affect normal splicing patterns and thereby disrupt gene function. mRNA analyses are therefore among the tests used to interpret the clinical significance of some genetic variants. However, these could be confounded by the appearance of naturally occurring alternative transcripts unrelated to germline sequence variation or defects in gene function. To understand which novel splicing events are associated with splicing mutations and which are part of the normal BRCA2 splicing repertoire, a study was undertaken by members of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium to characterise the spectrum of naturally occurring BRCA2 mRNA alternate-splicing events.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27060066</PMID><DateCreated><Year>2016</Year><Month>07</Month><Day>25</Day></DateCreated><DateCompleted><Year>2017</Year><Month>10</Month><Day>30</Day></DateCompleted><DateRevised><Year>2017</Year><Month>10</Month><Day>30</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1468-6244</ISSN><JournalIssue CitedMedium="Internet"><Volume>53</Volume><Issue>8</Issue><PubDate><Year>2016</Year><Month>Aug</Month></PubDate></JournalIssue><Title>Journal of medical genetics</Title><ISOAbbreviation>J. Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.</ArticleTitle><Pagination><MedlinePgn>548-58</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1136/jmedgenet-2015-103570</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">BRCA1 and BRCA2 are the two principal tumour suppressor genes associated with inherited high risk of breast and ovarian cancer. Genetic testing of BRCA1/2 will often reveal one or more sequence variants of uncertain clinical significance, some of which may affect normal splicing patterns and thereby disrupt gene function. mRNA analyses are therefore among the tests used to interpret the clinical significance of some genetic variants. However, these could be confounded by the appearance of naturally occurring alternative transcripts unrelated to germline sequence variation or defects in gene function. To understand which novel splicing events are associated with splicing mutations and which are part of the normal BRCA2 splicing repertoire, a study was undertaken by members of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium to characterise the spectrum of naturally occurring BRCA2 mRNA alternate-splicing events.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">mRNA was prepared from several blood and breast tissue-derived cells and cell lines by contributing ENIGMA laboratories. cDNA representing BRCA2 alternate splice sites was amplified and visualised using capillary or agarose gel electrophoresis, followed by sequencing.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We demonstrate the existence of 24 different BRCA2 mRNA alternate-splicing events in lymphoblastoid cell lines and both breast cancer and non-cancerous breast cell lines.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">These naturally occurring alternate-splicing events contribute to the array of cDNA fragments that may be seen in assays for mutation-associated splicing defects. Caution must be observed in assigning alternate-splicing events to potential splicing mutations.</AbstractText><CopyrightInformation>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Fackenthal</LastName><ForeName>James D</ForeName><Initials>JD</Initials><AffiliationInfo><Affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yoshimatsu</LastName><ForeName>Toshio</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Bifeng</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de Garibay</LastName><ForeName>Gorka R</ForeName><Initials>GR</Initials><AffiliationInfo><Affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Colombo</LastName><ForeName>Mara</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>De Vecchi</LastName><ForeName>Giovanna</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ayoub</LastName><ForeName>Samantha C</ForeName><Initials>SC</Initials><AffiliationInfo><Affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lal</LastName><ForeName>Kumar</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Olopade</LastName><ForeName>Olufunmilayo I</ForeName><Initials>OI</Initials><AffiliationInfo><Affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vega</LastName><ForeName>Ana</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Santamariña</LastName><ForeName>Marta</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Blanco</LastName><ForeName>Ana</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wappenschmidt</LastName><ForeName>Barbara</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), University of Cologne and University Hospital Cologne, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Becker</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Medical Faculty, Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), University of Cologne and University Hospital Cologne, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Houdayer</LastName><ForeName>Claude</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Service de Génétique and INSERM U830, Institut Curie and Université Paris Descartes, Sorbonne Paris Cité, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Walker</LastName><ForeName>Logan C</ForeName><Initials>LC</Initials><AffiliationInfo><Affiliation>Department of Pathology, University of Otago, Christchurch, New Zealand.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>López-Perolio</LastName><ForeName>Irene</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thomassen</LastName><ForeName>Mads</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Parsons</LastName><ForeName>Michael</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Whiley</LastName><ForeName>Phillip</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</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 Center, Maastricht, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brandão</LastName><ForeName>Rita D</ForeName><Initials>RD</Initials><AffiliationInfo><Affiliation>Maastricht Science Programme, Faculty of Humanities and Sciences, Maastricht University, Maastricht, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tserpelis</LastName><ForeName>Demis</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baralle</LastName><ForeName>Diana</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Montalban</LastName><ForeName>Gemma</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autonoma de Barcelona, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gutiérrez-Enríquez</LastName><ForeName>Sara</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autonoma de Barcelona, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Díez</LastName><ForeName>Orland</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autonoma de Barcelona, Barcelona, Spain Clinical and Molecular Genetics Area, University Hospital Vall d'Hebron, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lazaro</LastName><ForeName>Conxi</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>kConFaB Investigators</CollectiveName></Author><Author ValidYN="Y"><LastName>Spurdle</LastName><ForeName>Amanda B</ForeName><Initials>AB</Initials><AffiliationInfo><Affiliation>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Radice</LastName><ForeName>Paolo</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de la Hoya</LastName><ForeName>Miguel</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>04</Month><Day>08</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><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D024682">BRCA2 Protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C551750">BRCA2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D022821">RNA Splice Sites</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D012333">RNA, Messenger</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D017398" MajorTopicYN="N">Alternative Splicing</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D019313" MajorTopicYN="N">BRCA1 Protein</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D024682" MajorTopicYN="N">BRCA2 Protein</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D001943" MajorTopicYN="N">Breast Neoplasms</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002460" MajorTopicYN="N">Cell Line</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D045744" MajorTopicYN="N">Cell Line, Tumor</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005820" MajorTopicYN="N">Genetic Testing</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="N">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D061986" MajorTopicYN="N">MCF-7 Cells</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010051" MajorTopicYN="N">Ovarian Neoplasms</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D022821" MajorTopicYN="N">RNA Splice Sites</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012333" MajorTopicYN="N">RNA, Messenger</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">BRCA2</Keyword><Keyword MajorTopicYN="N">alternate splicing</Keyword><Keyword MajorTopicYN="N">breast cancer</Keyword><Keyword MajorTopicYN="N">tumor suppressor</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>11</Month><Day>17</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>03</Month><Day>10</Day></PubMedPubDate><PubMedPubDate 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