Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.
Identifieur interne : 000478 ( Main/Exploration ); précédent : 000477; suivant : 000479Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.
Auteurs : Bernard Leroy [France] ; Mandy L. Ballinger [Australie] ; Fanny Baran-Marszak [France] ; Gareth L. Bond [Royaume-Uni] ; Antony Braithwaite [Nouvelle-Zélande] ; Nicole Concin [Autriche] ; Lawrence A. Donehower [États-Unis] ; Wafik S. El-Deiry [États-Unis] ; Pierre Fenaux [France] ; Gianluca Gaidano [Italie] ; Anita Langer D [Norvège] ; Eva Hellstrom-Lindberg [Suède] ; Richard Iggo [France] ; Jacqueline Lehmann-Che [France] ; Phuong L. Mai [États-Unis] ; David Malkin [Canada] ; Ute M. Moll [États-Unis] ; Jeffrey N. Myers [États-Unis] ; Kim E. Nichols [États-Unis] ; Sarka Pospisilova [République tchèque] ; Patricia Ashton-Prolla [Brésil] ; Davide Rossi [Italie] ; Sharon A. Savage [États-Unis] ; Louise C. Strong [États-Unis] ; Patricia N. Tonin [Canada] ; Robert Zeillinger [Autriche] ; Thorsten Zenz [Allemagne] ; Joseph F. Fraumeni [États-Unis] ; Peter E M. Taschner [Pays-Bas] ; Pierre Hainaut [France] ; Thierry Soussi [France]Source :
- Cancer research [ 1538-7445 ] ; 2017.
Descripteurs français
- KwdFr :
- MESH :
- diagnostic : Tumeurs.
- génétique : Protéine p53 suppresseur de tumeur, Tumeurs, Variation génétique.
- normes : Guides de bonnes pratiques cliniques comme sujet.
- Contrôle de qualité, Humains, Tumeurs, Études de validation comme sujet.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Tumor Suppressor Protein p53.
- diagnosis : Neoplasms.
- genetics : Genetic Variation, Neoplasms.
- standards : Practice Guidelines as Topic.
- therapy : Neoplasms.
- Humans, Quality Control, Validation Studies as Topic.
Abstract
Accurate assessment of TP53 gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from more than 20,000 cancer genomes provide a wealth of information on cancer gene alterations and have confirmed TP53 as the most commonly mutated gene in human cancer. Analysis of a database of 70,000 TP53 variants reveals that the two newly discovered exons of the gene, exons 9β and 9γ, generated by alternative splicing, are the targets of inactivating mutation events in breast, liver, and head and neck tumors. Furthermore, germline rearrange-ments in intron 1 of TP53 are associated with LFS and are frequently observed in sporadic osteosarcoma. In this context of constantly growing genomic data, we discuss how screening strategies must be improved when assessing TP53 status in clinical samples. Finally, we discuss how TP53 alterations should be described by using accurate nomenclature to avoid confusion in scientific and clinical reports. Cancer Res; 77(6); 1250-60. ©2017 AACR.
DOI: 10.1158/0008-5472.CAN-16-2179
PubMed: 28254861
Affiliations:
- Allemagne, Australie, Autriche, Brésil, Canada, France, Italie, Norvège, Nouvelle-Zélande, Pays-Bas, Royaume-Uni, République tchèque, Suède, États-Unis
- Angleterre, Auvergne-Rhône-Alpes, Bade-Wurtemberg, District de Karlsruhe, Hollande-Méridionale, Maryland, Moravie, Ontario, Oxfordshire, Pennsylvanie, Rhône-Alpes, Rio Grande do Sul, Svealand, Tennessee, Texas, Vienne (Autriche), État de New York, Île-de-France, Østlandet
- Brno, Grenoble, Heidelberg, Leyde, Oslo, Oxford, Paris, Porto Alegre, Stockholm, Toronto, Vienne (Autriche)
- Université Grenoble-Alpes, Université d'Oxford, Université de Toronto, Université fédérale du Rio Grande do Sul
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Le document en format XML
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Mai</name><affiliation wicri:level="2"><nlm:affiliation>Cancer Genetics Program, Magee Womens Hospital, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Cancer Genetics Program, Magee Womens Hospital, University of Pittsburgh Medical Center, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Malkin, David" sort="Malkin, David" uniqKey="Malkin D" first="David" last="Malkin">David Malkin</name><affiliation wicri:level="4"><nlm:affiliation>Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Moll, Ute M" sort="Moll, Ute M" uniqKey="Moll U" first="Ute M" last="Moll">Ute M. Moll</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology, Stony Brook University, Stony Brook, New York.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Department of Pathology, Stony Brook University, Stony Brook</wicri:cityArea></affiliation></author><author><name sortKey="Myers, Jeffrey N" sort="Myers, Jeffrey N" uniqKey="Myers J" first="Jeffrey N" last="Myers">Jeffrey N. Myers</name><affiliation wicri:level="2"><nlm:affiliation>The University of Texas MD Anderson Cancer Center, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>The University of Texas MD Anderson Cancer Center, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Nichols, Kim E" sort="Nichols, Kim E" uniqKey="Nichols K" first="Kim E" last="Nichols">Kim E. Nichols</name><affiliation wicri:level="2"><nlm:affiliation>Department of Oncology, Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, Tennessee.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>Department of Oncology, Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis</wicri:cityArea></affiliation></author><author><name sortKey="Pospisilova, Sarka" sort="Pospisilova, Sarka" uniqKey="Pospisilova S" first="Sarka" last="Pospisilova">Sarka Pospisilova</name><affiliation wicri:level="3"><nlm:affiliation>Masaryk University, CEITEC - Molecular Medicine and University Hospital Brno, Department of Internal Medicine - Hematology and Oncology, Brno, Czech Republic.</nlm:affiliation><country xml:lang="fr">République tchèque</country><wicri:regionArea>Masaryk University, CEITEC - Molecular Medicine and University Hospital Brno, Department of Internal Medicine - Hematology and Oncology, Brno</wicri:regionArea><placeName><settlement type="city">Brno</settlement><region>Moravie</region></placeName></affiliation></author><author><name sortKey="Ashton Prolla, Patricia" sort="Ashton Prolla, Patricia" uniqKey="Ashton Prolla P" first="Patricia" last="Ashton-Prolla">Patricia Ashton-Prolla</name><affiliation wicri:level="4"><nlm:affiliation>Universidade Federal do Rio Grande do Sul (UFRGS) e Serviço deGenética Médica-HCPA, Rua Ramiro Barcelos, Porto Alegre, Brasil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Universidade Federal do Rio Grande do Sul (UFRGS) e Serviço deGenética Médica-HCPA, Rua Ramiro Barcelos, Porto Alegre</wicri:regionArea><placeName><settlement type="city">Porto Alegre</settlement><region type="state">Rio Grande do Sul</region><settlement type="city">Porto Alegre</settlement></placeName><orgName type="university">Université fédérale du Rio Grande do Sul</orgName></affiliation></author><author><name sortKey="Rossi, Davide" sort="Rossi, Davide" uniqKey="Rossi D" first="Davide" last="Rossi">Davide Rossi</name><affiliation wicri:level="1"><nlm:affiliation>Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara</wicri:regionArea><wicri:noRegion>Novara</wicri:noRegion></affiliation></author><author><name sortKey="Savage, Sharon A" sort="Savage, Sharon A" uniqKey="Savage S" first="Sharon A" last="Savage">Sharon A. Savage</name><affiliation wicri:level="2"><nlm:affiliation>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Strong, Louise C" sort="Strong, Louise C" uniqKey="Strong L" first="Louise C" last="Strong">Louise C. Strong</name><affiliation wicri:level="2"><nlm:affiliation>The University of Texas MD Anderson Cancer Center, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>The University of Texas MD Anderson Cancer Center, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Tonin, Patricia N" sort="Tonin, Patricia N" uniqKey="Tonin P" first="Patricia N" last="Tonin">Patricia N. Tonin</name><affiliation wicri:level="1"><nlm:affiliation>Departments of Medicine and Human Genetics, McGill University and Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Departments of Medicine and Human Genetics, McGill University and Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Zeillinger, Robert" sort="Zeillinger, Robert" uniqKey="Zeillinger R" first="Robert" last="Zeillinger">Robert Zeillinger</name><affiliation wicri:level="3"><nlm:affiliation>Molecular Oncology Group, Department of Obstetrics and Gynaecology, Medical University of Vienna, Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Molecular Oncology Group, Department of Obstetrics and Gynaecology, Medical University of Vienna, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Zenz, Thorsten" sort="Zenz, Thorsten" uniqKey="Zenz T" first="Thorsten" last="Zenz">Thorsten Zenz</name><affiliation wicri:level="3"><nlm:affiliation>University of Heidelberg, Department of Medicine V, Heidelberg, Germany; Department of Translational Oncology, National Center for Tumor Diseases and German Cancer Research Center (dkfz), Heidelberg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>University of Heidelberg, Department of Medicine V, Heidelberg, Germany; Department of Translational Oncology, National Center for Tumor Diseases and German Cancer Research Center (dkfz), Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Fraumeni, Joseph F" sort="Fraumeni, Joseph F" uniqKey="Fraumeni J" first="Joseph F" last="Fraumeni">Joseph F. Fraumeni</name><affiliation wicri:level="2"><nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Taschner, Peter E M" sort="Taschner, Peter E M" uniqKey="Taschner P" first="Peter E M" last="Taschner">Peter E M. Taschner</name><affiliation wicri:level="3"><nlm:affiliation>Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Hainaut, Pierre" sort="Hainaut, Pierre" uniqKey="Hainaut P" first="Pierre" last="Hainaut">Pierre Hainaut</name><affiliation wicri:level="4"><nlm:affiliation>Institut Albert Bonniot, Inserm 823, Université Grenoble Alpes, Rond Point de la Chantourne, La Tronche, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Albert Bonniot, Inserm 823, Université Grenoble Alpes, Rond Point de la Chantourne, La Tronche</wicri:regionArea><wicri:noRegion>La Tronche</wicri:noRegion><orgName type="university">Université Grenoble-Alpes</orgName><placeName><settlement type="city">Grenoble</settlement><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName></affiliation></author><author><name sortKey="Soussi, Thierry" sort="Soussi, Thierry" uniqKey="Soussi T" first="Thierry" last="Soussi">Thierry Soussi</name><affiliation wicri:level="3"><nlm:affiliation>Sorbonne Université, UPMC Univ Paris 06, Paris, France. thierry.soussi@ki.se thierry.soussi@upmc.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Université, UPMC Univ Paris 06, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28254861</idno><idno type="pmid">28254861</idno><idno type="doi">10.1158/0008-5472.CAN-16-2179</idno><idno type="wicri:Area/PubMed/Corpus">001012</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001012</idno><idno type="wicri:Area/PubMed/Curation">001009</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001009</idno><idno type="wicri:Area/PubMed/Checkpoint">001009</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001009</idno><idno type="wicri:Area/Ncbi/Merge">004397</idno><idno type="wicri:Area/Ncbi/Curation">004397</idno><idno type="wicri:Area/Ncbi/Checkpoint">004397</idno><idno type="wicri:Area/Main/Merge">000473</idno><idno type="wicri:Area/Main/Curation">000478</idno><idno type="wicri:Area/Main/Exploration">000478</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.</title><author><name sortKey="Leroy, Bernard" sort="Leroy, Bernard" uniqKey="Leroy B" first="Bernard" last="Leroy">Bernard Leroy</name><affiliation wicri:level="3"><nlm:affiliation>Sorbonne Université, UPMC Univ Paris 06, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Université, UPMC Univ Paris 06, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Ballinger, Mandy L" sort="Ballinger, Mandy L" uniqKey="Ballinger M" first="Mandy L" last="Ballinger">Mandy L. Ballinger</name><affiliation wicri:level="1"><nlm:affiliation>Cancer Division, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Cancer Division, Garvan Institute of Medical Research, Darlinghurst, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation></author><author><name sortKey="Baran Marszak, Fanny" sort="Baran Marszak, Fanny" uniqKey="Baran Marszak F" first="Fanny" last="Baran-Marszak">Fanny Baran-Marszak</name><affiliation wicri:level="1"><nlm:affiliation>Hôpital Avicenne, Assistance Publique-Hôpitaux De Paris, Bobigny, Service D'H ematologie Biologique, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Avicenne, Assistance Publique-Hôpitaux De Paris, Bobigny, Service D'H ematologie Biologique</wicri:regionArea><wicri:noRegion>Service D'H ematologie Biologique</wicri:noRegion><wicri:noRegion>Service D'H ematologie Biologique</wicri:noRegion></affiliation></author><author><name sortKey="Bond, Gareth L" sort="Bond, Gareth L" uniqKey="Bond G" first="Gareth L" last="Bond">Gareth L. Bond</name><affiliation wicri:level="4"><nlm:affiliation>Ludwig Institute for Cancer Research, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research Building, Oxford, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Ludwig Institute for Cancer Research, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research Building, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region><settlement type="city">Oxford</settlement></placeName><orgName type="university">Université d'Oxford</orgName></affiliation></author><author><name sortKey="Braithwaite, Antony" sort="Braithwaite, Antony" uniqKey="Braithwaite A" first="Antony" last="Braithwaite">Antony Braithwaite</name><affiliation wicri:level="1"><nlm:affiliation>Dept of Pathology, School of Medicine, University of Otago, Dunedin, New Zealand.</nlm:affiliation><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Dept of Pathology, School of Medicine, University of Otago, Dunedin</wicri:regionArea><wicri:noRegion>Dunedin</wicri:noRegion></affiliation></author><author><name sortKey="Concin, Nicole" sort="Concin, Nicole" uniqKey="Concin N" first="Nicole" last="Concin">Nicole Concin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Gynecology and Obstetrics, Innsbruck Medical University, Innsbruck, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Gynecology and Obstetrics, Innsbruck Medical University, Innsbruck</wicri:regionArea><wicri:noRegion>Innsbruck</wicri:noRegion></affiliation></author><author><name sortKey="Donehower, Lawrence A" sort="Donehower, Lawrence A" uniqKey="Donehower L" first="Lawrence A" last="Donehower">Lawrence A. Donehower</name><affiliation wicri:level="2"><nlm:affiliation>Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Human Genome Sequencing Center, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="El Deiry, Wafik S" sort="El Deiry, Wafik S" uniqKey="El Deiry W" first="Wafik S" last="El-Deiry">Wafik S. El-Deiry</name><affiliation wicri:level="2"><nlm:affiliation>Department of Hematology/Oncology and Molecular Therapeutics Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Hematology/Oncology and Molecular Therapeutics Program, Fox Chase Cancer Center, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Fenaux, Pierre" sort="Fenaux, Pierre" uniqKey="Fenaux P" first="Pierre" last="Fenaux">Pierre Fenaux</name><affiliation wicri:level="3"><nlm:affiliation>Service d'hématologie séniors, Hôpital St Louis/Université Paris 7, 1 avenue Claude Vellefaux, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service d'hématologie séniors, Hôpital St Louis/Université Paris 7, 1 avenue Claude Vellefaux, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Gaidano, Gianluca" sort="Gaidano, Gianluca" uniqKey="Gaidano G" first="Gianluca" last="Gaidano">Gianluca Gaidano</name><affiliation wicri:level="1"><nlm:affiliation>Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara</wicri:regionArea><wicri:noRegion>Novara</wicri:noRegion></affiliation></author><author><name sortKey="Langer D, Anita" sort="Langer D, Anita" uniqKey="Langer D A" first="Anita" last="Langer D">Anita Langer D</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Hellstrom Lindberg, Eva" sort="Hellstrom Lindberg, Eva" uniqKey="Hellstrom Lindberg E" first="Eva" last="Hellstrom-Lindberg">Eva Hellstrom-Lindberg</name><affiliation wicri:level="3"><nlm:affiliation>Karolinska Institute, Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska University Hospital, Stockholm, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Karolinska Institute, Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska University Hospital, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Iggo, Richard" sort="Iggo, Richard" uniqKey="Iggo R" first="Richard" last="Iggo">Richard Iggo</name><affiliation wicri:level="1"><nlm:affiliation>Bergonié Cancer Institute University of Bordeaux 229 cours de l'Argonne 33076 Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Bergonié Cancer Institute University of Bordeaux 229 cours de l'Argonne 33076 Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Lehmann Che, Jacqueline" sort="Lehmann Che, Jacqueline" uniqKey="Lehmann Che J" first="Jacqueline" last="Lehmann-Che">Jacqueline Lehmann-Che</name><affiliation wicri:level="3"><nlm:affiliation>Molecular Oncology Unit, Hospital Saint Louis, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Molecular Oncology Unit, Hospital Saint Louis, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Mai, Phuong L" sort="Mai, Phuong L" uniqKey="Mai P" first="Phuong L" last="Mai">Phuong L. Mai</name><affiliation wicri:level="2"><nlm:affiliation>Cancer Genetics Program, Magee Womens Hospital, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Cancer Genetics Program, Magee Womens Hospital, University of Pittsburgh Medical Center, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Malkin, David" sort="Malkin, David" uniqKey="Malkin D" first="David" last="Malkin">David Malkin</name><affiliation wicri:level="4"><nlm:affiliation>Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Moll, Ute M" sort="Moll, Ute M" uniqKey="Moll U" first="Ute M" last="Moll">Ute M. Moll</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology, Stony Brook University, Stony Brook, New York.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Department of Pathology, Stony Brook University, Stony Brook</wicri:cityArea></affiliation></author><author><name sortKey="Myers, Jeffrey N" sort="Myers, Jeffrey N" uniqKey="Myers J" first="Jeffrey N" last="Myers">Jeffrey N. Myers</name><affiliation wicri:level="2"><nlm:affiliation>The University of Texas MD Anderson Cancer Center, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>The University of Texas MD Anderson Cancer Center, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Nichols, Kim E" sort="Nichols, Kim E" uniqKey="Nichols K" first="Kim E" last="Nichols">Kim E. Nichols</name><affiliation wicri:level="2"><nlm:affiliation>Department of Oncology, Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, Tennessee.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>Department of Oncology, Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis</wicri:cityArea></affiliation></author><author><name sortKey="Pospisilova, Sarka" sort="Pospisilova, Sarka" uniqKey="Pospisilova S" first="Sarka" last="Pospisilova">Sarka Pospisilova</name><affiliation wicri:level="3"><nlm:affiliation>Masaryk University, CEITEC - Molecular Medicine and University Hospital Brno, Department of Internal Medicine - Hematology and Oncology, Brno, Czech Republic.</nlm:affiliation><country xml:lang="fr">République tchèque</country><wicri:regionArea>Masaryk University, CEITEC - Molecular Medicine and University Hospital Brno, Department of Internal Medicine - Hematology and Oncology, Brno</wicri:regionArea><placeName><settlement type="city">Brno</settlement><region>Moravie</region></placeName></affiliation></author><author><name sortKey="Ashton Prolla, Patricia" sort="Ashton Prolla, Patricia" uniqKey="Ashton Prolla P" first="Patricia" last="Ashton-Prolla">Patricia Ashton-Prolla</name><affiliation wicri:level="4"><nlm:affiliation>Universidade Federal do Rio Grande do Sul (UFRGS) e Serviço deGenética Médica-HCPA, Rua Ramiro Barcelos, Porto Alegre, Brasil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Universidade Federal do Rio Grande do Sul (UFRGS) e Serviço deGenética Médica-HCPA, Rua Ramiro Barcelos, Porto Alegre</wicri:regionArea><placeName><settlement type="city">Porto Alegre</settlement><region type="state">Rio Grande do Sul</region><settlement type="city">Porto Alegre</settlement></placeName><orgName type="university">Université fédérale du Rio Grande do Sul</orgName></affiliation></author><author><name sortKey="Rossi, Davide" sort="Rossi, Davide" uniqKey="Rossi D" first="Davide" last="Rossi">Davide Rossi</name><affiliation wicri:level="1"><nlm:affiliation>Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara</wicri:regionArea><wicri:noRegion>Novara</wicri:noRegion></affiliation></author><author><name sortKey="Savage, Sharon A" sort="Savage, Sharon A" uniqKey="Savage S" first="Sharon A" last="Savage">Sharon A. Savage</name><affiliation wicri:level="2"><nlm:affiliation>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Strong, Louise C" sort="Strong, Louise C" uniqKey="Strong L" first="Louise C" last="Strong">Louise C. Strong</name><affiliation wicri:level="2"><nlm:affiliation>The University of Texas MD Anderson Cancer Center, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>The University of Texas MD Anderson Cancer Center, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Tonin, Patricia N" sort="Tonin, Patricia N" uniqKey="Tonin P" first="Patricia N" last="Tonin">Patricia N. Tonin</name><affiliation wicri:level="1"><nlm:affiliation>Departments of Medicine and Human Genetics, McGill University and Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Departments of Medicine and Human Genetics, McGill University and Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Zeillinger, Robert" sort="Zeillinger, Robert" uniqKey="Zeillinger R" first="Robert" last="Zeillinger">Robert Zeillinger</name><affiliation wicri:level="3"><nlm:affiliation>Molecular Oncology Group, Department of Obstetrics and Gynaecology, Medical University of Vienna, Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Molecular Oncology Group, Department of Obstetrics and Gynaecology, Medical University of Vienna, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Zenz, Thorsten" sort="Zenz, Thorsten" uniqKey="Zenz T" first="Thorsten" last="Zenz">Thorsten Zenz</name><affiliation wicri:level="3"><nlm:affiliation>University of Heidelberg, Department of Medicine V, Heidelberg, Germany; Department of Translational Oncology, National Center for Tumor Diseases and German Cancer Research Center (dkfz), Heidelberg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>University of Heidelberg, Department of Medicine V, Heidelberg, Germany; Department of Translational Oncology, National Center for Tumor Diseases and German Cancer Research Center (dkfz), Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Fraumeni, Joseph F" sort="Fraumeni, Joseph F" uniqKey="Fraumeni J" first="Joseph F" last="Fraumeni">Joseph F. Fraumeni</name><affiliation wicri:level="2"><nlm:affiliation>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Taschner, Peter E M" sort="Taschner, Peter E M" uniqKey="Taschner P" first="Peter E M" last="Taschner">Peter E M. Taschner</name><affiliation wicri:level="3"><nlm:affiliation>Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Hainaut, Pierre" sort="Hainaut, Pierre" uniqKey="Hainaut P" first="Pierre" last="Hainaut">Pierre Hainaut</name><affiliation wicri:level="4"><nlm:affiliation>Institut Albert Bonniot, Inserm 823, Université Grenoble Alpes, Rond Point de la Chantourne, La Tronche, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Albert Bonniot, Inserm 823, Université Grenoble Alpes, Rond Point de la Chantourne, La Tronche</wicri:regionArea><wicri:noRegion>La Tronche</wicri:noRegion><orgName type="university">Université Grenoble-Alpes</orgName><placeName><settlement type="city">Grenoble</settlement><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName></affiliation></author><author><name sortKey="Soussi, Thierry" sort="Soussi, Thierry" uniqKey="Soussi T" first="Thierry" last="Soussi">Thierry Soussi</name><affiliation wicri:level="3"><nlm:affiliation>Sorbonne Université, UPMC Univ Paris 06, Paris, France. thierry.soussi@ki.se thierry.soussi@upmc.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Université, UPMC Univ Paris 06, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><series><title level="j">Cancer research</title><idno type="eISSN">1538-7445</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetic Variation (genetics)</term><term>Humans</term><term>Neoplasms (diagnosis)</term><term>Neoplasms (genetics)</term><term>Neoplasms (therapy)</term><term>Practice Guidelines as Topic (standards)</term><term>Quality Control</term><term>Tumor Suppressor Protein p53 (genetics)</term><term>Validation Studies as Topic</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Contrôle de qualité</term><term>Guides de bonnes pratiques cliniques comme sujet (normes)</term><term>Humains</term><term>Protéine p53 suppresseur de tumeur (génétique)</term><term>Tumeurs ()</term><term>Tumeurs (diagnostic)</term><term>Tumeurs (génétique)</term><term>Variation génétique (génétique)</term><term>Études de validation comme sujet</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Tumor Suppressor Protein p53</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Neoplasms</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Tumeurs</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Variation</term><term>Neoplasms</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Protéine p53 suppresseur de tumeur</term><term>Tumeurs</term><term>Variation génétique</term></keywords><keywords scheme="MESH" qualifier="normes" xml:lang="fr"><term>Guides de bonnes pratiques cliniques comme sujet</term></keywords><keywords scheme="MESH" qualifier="standards" xml:lang="en"><term>Practice Guidelines as Topic</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Neoplasms</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Quality Control</term><term>Validation Studies as Topic</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Contrôle de qualité</term><term>Humains</term><term>Tumeurs</term><term>Études de validation comme sujet</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Accurate assessment of TP53 gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from more than 20,000 cancer genomes provide a wealth of information on cancer gene alterations and have confirmed TP53 as the most commonly mutated gene in human cancer. Analysis of a database of 70,000 TP53 variants reveals that the two newly discovered exons of the gene, exons 9β and 9γ, generated by alternative splicing, are the targets of inactivating mutation events in breast, liver, and head and neck tumors. Furthermore, germline rearrange-ments in intron 1 of TP53 are associated with LFS and are frequently observed in sporadic osteosarcoma. In this context of constantly growing genomic data, we discuss how screening strategies must be improved when assessing TP53 status in clinical samples. Finally, we discuss how TP53 alterations should be described by using accurate nomenclature to avoid confusion in scientific and clinical reports. Cancer Res; 77(6); 1250-60. ©2017 AACR.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Autriche</li><li>Brésil</li><li>Canada</li><li>France</li><li>Italie</li><li>Norvège</li><li>Nouvelle-Zélande</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>République tchèque</li><li>Suède</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Auvergne-Rhône-Alpes</li><li>Bade-Wurtemberg</li><li>District de Karlsruhe</li><li>Hollande-Méridionale</li><li>Maryland</li><li>Moravie</li><li>Ontario</li><li>Oxfordshire</li><li>Pennsylvanie</li><li>Rhône-Alpes</li><li>Rio Grande do Sul</li><li>Svealand</li><li>Tennessee</li><li>Texas</li><li>Vienne (Autriche)</li><li>État de New York</li><li>Île-de-France</li><li>Østlandet</li></region><settlement><li>Brno</li><li>Grenoble</li><li>Heidelberg</li><li>Leyde</li><li>Oslo</li><li>Oxford</li><li>Paris</li><li>Porto Alegre</li><li>Stockholm</li><li>Toronto</li><li>Vienne (Autriche)</li></settlement><orgName><li>Université Grenoble-Alpes</li><li>Université d'Oxford</li><li>Université de Toronto</li><li>Université fédérale du Rio Grande do Sul</li></orgName></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Leroy, Bernard" sort="Leroy, Bernard" uniqKey="Leroy B" first="Bernard" last="Leroy">Bernard Leroy</name></region><name sortKey="Baran Marszak, Fanny" sort="Baran Marszak, Fanny" uniqKey="Baran Marszak F" first="Fanny" last="Baran-Marszak">Fanny Baran-Marszak</name><name sortKey="Fenaux, Pierre" sort="Fenaux, Pierre" uniqKey="Fenaux P" first="Pierre" last="Fenaux">Pierre Fenaux</name><name sortKey="Hainaut, Pierre" sort="Hainaut, Pierre" uniqKey="Hainaut P" first="Pierre" last="Hainaut">Pierre Hainaut</name><name sortKey="Iggo, Richard" sort="Iggo, Richard" uniqKey="Iggo R" first="Richard" last="Iggo">Richard Iggo</name><name sortKey="Lehmann Che, Jacqueline" sort="Lehmann Che, Jacqueline" uniqKey="Lehmann Che J" first="Jacqueline" last="Lehmann-Che">Jacqueline Lehmann-Che</name><name sortKey="Soussi, Thierry" sort="Soussi, Thierry" uniqKey="Soussi T" first="Thierry" last="Soussi">Thierry Soussi</name></country><country name="Australie"><noRegion><name sortKey="Ballinger, Mandy L" sort="Ballinger, Mandy L" uniqKey="Ballinger M" first="Mandy L" last="Ballinger">Mandy L. Ballinger</name></noRegion></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Bond, Gareth L" sort="Bond, Gareth L" uniqKey="Bond G" first="Gareth L" last="Bond">Gareth L. Bond</name></region></country><country name="Nouvelle-Zélande"><noRegion><name sortKey="Braithwaite, Antony" sort="Braithwaite, Antony" uniqKey="Braithwaite A" first="Antony" last="Braithwaite">Antony Braithwaite</name></noRegion></country><country name="Autriche"><noRegion><name sortKey="Concin, Nicole" sort="Concin, Nicole" uniqKey="Concin N" first="Nicole" last="Concin">Nicole Concin</name></noRegion><name sortKey="Zeillinger, Robert" sort="Zeillinger, Robert" uniqKey="Zeillinger R" first="Robert" last="Zeillinger">Robert Zeillinger</name></country><country name="États-Unis"><region name="Texas"><name sortKey="Donehower, Lawrence A" sort="Donehower, Lawrence A" uniqKey="Donehower L" first="Lawrence A" last="Donehower">Lawrence A. Donehower</name></region><name sortKey="El Deiry, Wafik S" sort="El Deiry, Wafik S" uniqKey="El Deiry W" first="Wafik S" last="El-Deiry">Wafik S. El-Deiry</name><name sortKey="Fraumeni, Joseph F" sort="Fraumeni, Joseph F" uniqKey="Fraumeni J" first="Joseph F" last="Fraumeni">Joseph F. Fraumeni</name><name sortKey="Mai, Phuong L" sort="Mai, Phuong L" uniqKey="Mai P" first="Phuong L" last="Mai">Phuong L. Mai</name><name sortKey="Moll, Ute M" sort="Moll, Ute M" uniqKey="Moll U" first="Ute M" last="Moll">Ute M. Moll</name><name sortKey="Myers, Jeffrey N" sort="Myers, Jeffrey N" uniqKey="Myers J" first="Jeffrey N" last="Myers">Jeffrey N. Myers</name><name sortKey="Nichols, Kim E" sort="Nichols, Kim E" uniqKey="Nichols K" first="Kim E" last="Nichols">Kim E. Nichols</name><name sortKey="Savage, Sharon A" sort="Savage, Sharon A" uniqKey="Savage S" first="Sharon A" last="Savage">Sharon A. Savage</name><name sortKey="Strong, Louise C" sort="Strong, Louise C" uniqKey="Strong L" first="Louise C" last="Strong">Louise C. Strong</name></country><country name="Italie"><noRegion><name sortKey="Gaidano, Gianluca" sort="Gaidano, Gianluca" uniqKey="Gaidano G" first="Gianluca" last="Gaidano">Gianluca Gaidano</name></noRegion><name sortKey="Rossi, Davide" sort="Rossi, Davide" uniqKey="Rossi D" first="Davide" last="Rossi">Davide Rossi</name></country><country name="Norvège"><region name="Østlandet"><name sortKey="Langer D, Anita" sort="Langer D, Anita" uniqKey="Langer D A" first="Anita" last="Langer D">Anita Langer D</name></region></country><country name="Suède"><region name="Svealand"><name sortKey="Hellstrom Lindberg, Eva" sort="Hellstrom Lindberg, Eva" uniqKey="Hellstrom Lindberg E" first="Eva" last="Hellstrom-Lindberg">Eva Hellstrom-Lindberg</name></region></country><country name="Canada"><region name="Ontario"><name sortKey="Malkin, David" sort="Malkin, David" uniqKey="Malkin D" first="David" last="Malkin">David Malkin</name></region><name sortKey="Tonin, Patricia N" sort="Tonin, Patricia N" uniqKey="Tonin P" first="Patricia N" last="Tonin">Patricia N. Tonin</name></country><country name="République tchèque"><region name="Moravie"><name sortKey="Pospisilova, Sarka" sort="Pospisilova, Sarka" uniqKey="Pospisilova S" first="Sarka" last="Pospisilova">Sarka Pospisilova</name></region></country><country name="Brésil"><region name="Rio Grande do Sul"><name sortKey="Ashton Prolla, Patricia" sort="Ashton Prolla, Patricia" uniqKey="Ashton Prolla P" first="Patricia" last="Ashton-Prolla">Patricia Ashton-Prolla</name></region></country><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Zenz, Thorsten" sort="Zenz, Thorsten" uniqKey="Zenz T" first="Thorsten" last="Zenz">Thorsten Zenz</name></region></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Taschner, Peter E M" sort="Taschner, Peter E M" uniqKey="Taschner P" first="Peter E M" last="Taschner">Peter E M. Taschner</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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