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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.

Identifieur interne : 001A65 ( Main/Exploration ); précédent : 001A64; suivant : 001A66

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.

Auteurs : James D. Fackenthal [États-Unis] ; Toshio Yoshimatsu [États-Unis] ; Bifeng Zhang [États-Unis] ; Gorka R. De Garibay [États-Unis] ; Mara Colombo [Italie] ; Giovanna De Vecchi [Italie] ; Samantha C. Ayoub [États-Unis] ; Kumar Lal [États-Unis] ; Olufunmilayo I. Olopade [États-Unis] ; Ana Vega [Espagne] ; Marta Santamari A [Espagne] ; Ana Blanco [Espagne] ; Barbara Wappenschmidt [Allemagne] ; Alexandra Becker [Allemagne] ; Claude Houdayer [France] ; Logan C. Walker [Nouvelle-Zélande] ; Irene L Pez-Perolio [Espagne] ; Mads Thomassen [Danemark] ; Michael Parsons [Australie] ; Phillip Whiley [Australie] ; Marinus J. Blok [Pays-Bas] ; Rita D. Brandão [Pays-Bas] ; Demis Tserpelis [Pays-Bas] ; Diana Baralle [Royaume-Uni] ; Gemma Montalban [Espagne] ; Sara Gutiérrez-Enríquez [Espagne] ; Orland Díez [Espagne] ; Conxi Lazaro [Espagne] ; Amanda B. Spurdle [Australie] ; Paolo Radice [Italie] ; Miguel De La Hoya [Espagne]

Source :

RBID : pubmed:27060066

Descripteurs français

English descriptors

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


Affiliations:


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Le document en format XML

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<name sortKey="Brandao, Rita D" sort="Brandao, Rita D" uniqKey="Brandao R" first="Rita D" last="Brandão">Rita D. Brandão</name>
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<nlm:affiliation>Maastricht Science Programme, Faculty of Humanities and Sciences, Maastricht University, Maastricht, The Netherlands.</nlm:affiliation>
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<nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.</nlm:affiliation>
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<name sortKey="Baralle, Diana" sort="Baralle, Diana" uniqKey="Baralle D" first="Diana" last="Baralle">Diana Baralle</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, University of Chicago, Chicago, Illinois</wicri:regionArea>
<placeName>
<region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Yoshimatsu, Toshio" sort="Yoshimatsu, Toshio" uniqKey="Yoshimatsu T" first="Toshio" last="Yoshimatsu">Toshio Yoshimatsu</name>
<affiliation wicri:level="2">
<nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, University of Chicago, Chicago, Illinois</wicri:regionArea>
<placeName>
<region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Zhang, Bifeng" sort="Zhang, Bifeng" uniqKey="Zhang B" first="Bifeng" last="Zhang">Bifeng Zhang</name>
<affiliation wicri:level="2">
<nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, University of Chicago, Chicago, Illinois</wicri:regionArea>
<placeName>
<region type="state">Illinois</region>
</placeName>
</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 wicri:level="2">
<nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, University of Chicago, Chicago, Illinois</wicri:regionArea>
<placeName>
<region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Colombo, Mara" sort="Colombo, Mara" uniqKey="Colombo M" first="Mara" last="Colombo">Mara Colombo</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano</wicri:regionArea>
<wicri:noRegion>Milano</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>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>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milano</wicri:regionArea>
<wicri:noRegion>Milano</wicri:noRegion>
</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 wicri:level="2">
<nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, University of Chicago, Chicago, Illinois</wicri:regionArea>
<placeName>
<region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Lal, Kumar" sort="Lal, Kumar" uniqKey="Lal K" first="Kumar" last="Lal">Kumar Lal</name>
<affiliation wicri:level="2">
<nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, University of Chicago, Chicago, Illinois</wicri:regionArea>
<placeName>
<region type="state">Illinois</region>
</placeName>
</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 wicri:level="2">
<nlm:affiliation>Department of Medicine, University of Chicago, Chicago, Illinois, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, University of Chicago, Chicago, Illinois</wicri:regionArea>
<placeName>
<region type="state">Illinois</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="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>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="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="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name>
<affiliation wicri:level="1">
<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>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>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</wicri:regionArea>
<wicri:noRegion>University of Cologne and University Hospital Cologne</wicri:noRegion>
<wicri:noRegion>University of Cologne and University Hospital Cologne</wicri:noRegion>
<wicri:noRegion>University of Cologne and University Hospital Cologne</wicri:noRegion>
</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>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>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>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</wicri:regionArea>
<wicri:noRegion>University of Cologne and University Hospital Cologne</wicri:noRegion>
<wicri:noRegion>University of Cologne and University Hospital Cologne</wicri:noRegion>
<wicri:noRegion>University of Cologne and University Hospital Cologne</wicri:noRegion>
</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="Walker, Logan C" sort="Walker, Logan C" uniqKey="Walker L" first="Logan C" last="Walker">Logan C. 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="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 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="Thomassen, Mads" sort="Thomassen, Mads" uniqKey="Thomassen M" first="Mads" last="Thomassen">Mads Thomassen</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.</nlm:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, Odense C</wicri:regionArea>
<wicri:noRegion>Odense C</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Parsons, Michael" sort="Parsons, Michael" uniqKey="Parsons M" first="Michael" last="Parsons">Michael Parsons</name>
<affiliation wicri:level="1">
<nlm:affiliation>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland</wicri:regionArea>
<wicri:noRegion>Queensland</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>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland</wicri:regionArea>
<wicri:noRegion>Queensland</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="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>Maastricht Science Programme, Faculty of Humanities and Sciences, Maastricht University, Maastricht, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Maastricht Science Programme, Faculty of Humanities and Sciences, Maastricht University, 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="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="Montalban, Gemma" sort="Montalban, Gemma" uniqKey="Montalban G" first="Gemma" last="Montalban">Gemma Montalban</name>
<affiliation wicri:level="3">
<nlm:affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and 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 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="Gutierrez Enriquez, Sara" sort="Gutierrez Enriquez, Sara" uniqKey="Gutierrez Enriquez S" first="Sara" last="Gutiérrez-Enríquez">Sara Gutiérrez-Enríquez</name>
<affiliation wicri:level="3">
<nlm:affiliation>Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and 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 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="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 Universitat Autonoma de Barcelona, Barcelona, Spain Clinical and Molecular Genetics Area, University Hospital 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 Universitat Autonoma de Barcelona, Barcelona, Spain Clinical and Molecular Genetics Area, University Hospital 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="Lazaro, Conxi" sort="Lazaro, Conxi" uniqKey="Lazaro C" first="Conxi" last="Lazaro">Conxi Lazaro</name>
<affiliation wicri:level="3">
<nlm:affiliation>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona</wicri:regionArea>
<placeName>
<settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B" last="Spurdle">Amanda B. Spurdle</name>
<affiliation wicri:level="1">
<nlm:affiliation>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland</wicri:regionArea>
<wicri:noRegion>Queensland</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>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>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), 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="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>
</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="KwdFr" xml:lang="fr">
<term>ARN messager (génétique)</term>
<term>Cellules MCF-7</term>
<term>Dépistage génétique ()</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lignée cellulaire</term>
<term>Lignée cellulaire tumorale</term>
<term>Mutation (génétique)</term>
<term>Protéine BRCA1 (génétique)</term>
<term>Protéine BRCA2 (génétique)</term>
<term>Prédisposition génétique à une maladie (génétique)</term>
<term>Sites d'épissage d'ARN (génétique)</term>
<term>Tumeurs de l'ovaire (génétique)</term>
<term>Tumeurs du sein (génétique)</term>
<term>Épissage alternatif (génétique)</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="génétique" xml:lang="fr">
<term>ARN messager</term>
<term>Mutation</term>
<term>Protéine BRCA1</term>
<term>Protéine BRCA2</term>
<term>Prédisposition génétique à une maladie</term>
<term>Sites d'épissage d'ARN</term>
<term>Tumeurs de l'ovaire</term>
<term>Tumeurs du sein</term>
<term>Épissage alternatif</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>
<keywords scheme="MESH" xml:lang="fr">
<term>Cellules MCF-7</term>
<term>Dépistage génétique</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lignée cellulaire</term>
<term>Lignée cellulaire tumorale</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>
<affiliations>
<list>
<country>
<li>Allemagne</li>
<li>Australie</li>
<li>Danemark</li>
<li>Espagne</li>
<li>France</li>
<li>Italie</li>
<li>Nouvelle-Zélande</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>
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<li>Barcelone</li>
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