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Review

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice

Bernard Leroy, Mandy L. Ballinger, Fanny Baran-Marszak, Gareth L. Bond, Antony Braithwaite, Nicole Concin, Lawrence A. Donehower, Wafik S. El-Deiry, Pierre Fenaux, Gianluca Gaidano, Anita Langerød, Eva Hellstrom-Lindberg, Richard Iggo, Jacqueline Lehmann-Che, Phuong L. Mai, David Malkin, Ute M. Moll, Jeffrey N. Myers, Kim E. Nichols, Sarka Pospisilova, Patricia Ashton-Prolla, Davide Rossi, Sharon A. Savage, Louise C. Strong, Patricia N. Tonin, Robert Zeillinger, Thorsten Zenz, Joseph F. Fraumeni Jr, Peter E.M. Taschner, Pierre Hainaut and Thierry Soussi
Bernard Leroy
Sorbonne Université, UPMC Univ Paris 06, Paris, France.
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Mandy L. Ballinger
Cancer Division, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
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Fanny Baran-Marszak
Hôpital Avicenne, Assistance Publique—Hôpitaux De Paris, Bobigny, Service D'H ematologie Biologique, France.
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Gareth L. Bond
Ludwig Institute for Cancer Research, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research Building, Oxford, United Kingdom.
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Antony Braithwaite
Dept of Pathology, School of Medicine, University of Otago, Dunedin, New Zealand.Children's Medical Research Institute, University of Sydney, Westmead NSW, Australia.
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Nicole Concin
Department of Gynecology and Obstetrics, Innsbruck Medical University, Innsbruck, Austria.
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Lawrence A. Donehower
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
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Wafik S. El-Deiry
Department of Hematology/Oncology and Molecular Therapeutics Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
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Pierre Fenaux
Service d'hématologie séniors, Hôpital St Louis/Université Paris 7, 1 avenue Claude Vellefaux, Paris, France.
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Gianluca Gaidano
Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy.
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Anita Langerød
Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.
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Eva Hellstrom-Lindberg
Karolinska Institute, Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska University Hospital, Stockholm, Sweden.
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Richard Iggo
Bergonié Cancer Institute University of Bordeaux 229 cours de l'Argonne 33076 Bordeaux, France.
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Jacqueline Lehmann-Che
Molecular Oncology Unit, Hospital Saint Louis, Paris, France.
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Phuong L. Mai
Cancer Genetics Program, Magee Womens Hospital, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
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David Malkin
Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
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Ute M. Moll
Department of Pathology, Stony Brook University, Stony Brook, New York.
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Jeffrey N. Myers
The University of Texas MD Anderson Cancer Center, Houston, Texas.
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Kim E. Nichols
Department of Oncology, Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, Tennessee.
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Sarka Pospisilova
Masaryk University, CEITEC – Molecular Medicine and University Hospital Brno, Department of Internal Medicine – Hematology and Oncology, Brno, Czech Republic.
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Patricia Ashton-Prolla
Universidade Federal do Rio Grande do Sul (UFRGS) e Serviço deGenética Médica-HCPA, Rua Ramiro Barcelos, Porto Alegre, Brasil.
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Davide Rossi
Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy.
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Sharon A. Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
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Louise C. Strong
The University of Texas MD Anderson Cancer Center, Houston, Texas.
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Patricia N. Tonin
Departments of Medicine and Human Genetics, McGill University and Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
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Robert Zeillinger
Molecular Oncology Group, Department of Obstetrics and Gynaecology, Medical University of Vienna, Vienna, Austria.
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Thorsten Zenz
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.
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Joseph F. Fraumeni
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
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Peter E.M. Taschner
Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden, the Netherlands.
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Pierre Hainaut
Institut Albert Bonniot, Inserm 823, Université Grenoble Alpes, Rond Point de la Chantourne, La Tronche, France.
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Thierry Soussi
Sorbonne Université, UPMC Univ Paris 06, Paris, France.Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska, Stockholm, Sweden.INSERM, U1138, Centre de Recherche des Cordeliers, Paris, France.
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  • For correspondence: thierry.soussi@ki.sethierry.soussi@upmc.fr
DOI: 10.1158/0008-5472.CAN-16-2179
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Article Information

DOI 
https://doi.org/10.1158/0008-5472.CAN-16-2179
PubMed 
28254861

Published By 
American Association for Cancer Research
Print ISSN 
0008-5472
Online ISSN 
1538-7445
History 
  • Received August 8, 2016
  • Revision received November 12, 2016
  • Accepted November 16, 2016
  • Published first March 2, 2017.

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  • You are currently viewing a Previous version of this article (March 2, 2017 - 07:46).
  • View the most recent version of this article
Copyright & Usage 
©2017 American Association for Cancer Research.

Author Information

  1. Bernard Leroy1,
  2. Mandy L. Ballinger2,
  3. Fanny Baran-Marszak3,
  4. Gareth L. Bond4,
  5. Antony Braithwaite5,6,
  6. Nicole Concin7,
  7. Lawrence A. Donehower8,
  8. Wafik S. El-Deiry9,
  9. Pierre Fenaux10,
  10. Gianluca Gaidano11,
  11. Anita Langerød12,
  12. Eva Hellstrom-Lindberg13,
  13. Richard Iggo14,
  14. Jacqueline Lehmann-Che15,
  15. Phuong L. Mai16,
  16. David Malkin17,
  17. Ute M. Moll18,
  18. Jeffrey N. Myers19,
  19. Kim E. Nichols20,
  20. Sarka Pospisilova21,
  21. Patricia Ashton-Prolla22,
  22. Davide Rossi11,
  23. Sharon A. Savage23,
  24. Louise C. Strong24,
  25. Patricia N. Tonin25,
  26. Robert Zeillinger26,
  27. Thorsten Zenz27,
  28. Joseph F. Fraumeni Jr28,
  29. Peter E.M. Taschner29,
  30. Pierre Hainaut30, and
  31. Thierry Soussi1,31,32,*
  1. 1Sorbonne Université, UPMC Univ Paris 06, Paris, France.
  2. 2Cancer Division, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
  3. 3Hôpital Avicenne, Assistance Publique—Hôpitaux De Paris, Bobigny, Service D'H ematologie Biologique, France.
  4. 4Ludwig Institute for Cancer Research, University of Oxford, Nuffield Department of Clinical Medicine, Old Road Campus Research Building, Oxford, United Kingdom.
  5. 5Dept of Pathology, School of Medicine, University of Otago, Dunedin, New Zealand.
  6. 6Children's Medical Research Institute, University of Sydney, Westmead NSW, Australia.
  7. 7Department of Gynecology and Obstetrics, Innsbruck Medical University, Innsbruck, Austria.
  8. 8Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  9. 9Department of Hematology/Oncology and Molecular Therapeutics Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
  10. 10Service d'hématologie séniors, Hôpital St Louis/Université Paris 7, 1 avenue Claude Vellefaux, Paris, France.
  11. 11Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy.
  12. 12Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.
  13. 13Karolinska Institute, Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska University Hospital, Stockholm, Sweden.
  14. 14Bergonié Cancer Institute University of Bordeaux 229 cours de l'Argonne 33076 Bordeaux, France.
  15. 15Molecular Oncology Unit, Hospital Saint Louis, Paris, France.
  16. 16Cancer Genetics Program, Magee Womens Hospital, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
  17. 17Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  18. 18Department of Pathology, Stony Brook University, Stony Brook, New York.
  19. 19The University of Texas MD Anderson Cancer Center, Houston, Texas.
  20. 20Department of Oncology, Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, Tennessee.
  21. 21Masaryk University, CEITEC – Molecular Medicine and University Hospital Brno, Department of Internal Medicine – Hematology and Oncology, Brno, Czech Republic.
  22. 22Universidade Federal do Rio Grande do Sul (UFRGS) e Serviço deGenética Médica-HCPA, Rua Ramiro Barcelos, Porto Alegre, Brasil.
  23. 23Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
  24. 24The University of Texas MD Anderson Cancer Center, Houston, Texas.
  25. 25Departments of Medicine and Human Genetics, McGill University and Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
  26. 26Molecular Oncology Group, Department of Obstetrics and Gynaecology, Medical University of Vienna, Vienna, Austria.
  27. 27University 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.
  28. 28Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
  29. 29Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden, the Netherlands.
  30. 30Institut Albert Bonniot, Inserm 823, Université Grenoble Alpes, Rond Point de la Chantourne, La Tronche, France.
  31. 31Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska, Stockholm, Sweden.
  32. 32INSERM, U1138, Centre de Recherche des Cordeliers, Paris, France.
  1. ↵*Corresponding Author:
    Thierry Soussi, Karolinksa Institutet, Cancer Centrum Karolinska, Stockholm 17176, Sweden and Sorbonne Université, UPMC Univ Paris 06, Paris, France. Phone: 46-8-5177-733. E-mail: thierry.soussi{at}ki.se or thierry.soussi{at}upmc.fr

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Published OnlineFirst March 2, 2017
doi: 10.1158/0008-5472.CAN-16-2179

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Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice
Bernard Leroy, Mandy L. Ballinger, Fanny Baran-Marszak, Gareth L. Bond, Antony Braithwaite, Nicole Concin, Lawrence A. Donehower, Wafik S. El-Deiry, Pierre Fenaux, Gianluca Gaidano, Anita Langerød, Eva Hellstrom-Lindberg, Richard Iggo, Jacqueline Lehmann-Che, Phuong L. Mai, David Malkin, Ute M. Moll, Jeffrey N. Myers, Kim E. Nichols, Sarka Pospisilova, Patricia Ashton-Prolla, Davide Rossi, Sharon A. Savage, Louise C. Strong, Patricia N. Tonin, Robert Zeillinger, Thorsten Zenz, Joseph F. Fraumeni Jr, Peter E.M. Taschner, Pierre Hainaut and Thierry Soussi
Cancer Res March 2 2017 DOI: 10.1158/0008-5472.CAN-16-2179

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Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice
Bernard Leroy, Mandy L. Ballinger, Fanny Baran-Marszak, Gareth L. Bond, Antony Braithwaite, Nicole Concin, Lawrence A. Donehower, Wafik S. El-Deiry, Pierre Fenaux, Gianluca Gaidano, Anita Langerød, Eva Hellstrom-Lindberg, Richard Iggo, Jacqueline Lehmann-Che, Phuong L. Mai, David Malkin, Ute M. Moll, Jeffrey N. Myers, Kim E. Nichols, Sarka Pospisilova, Patricia Ashton-Prolla, Davide Rossi, Sharon A. Savage, Louise C. Strong, Patricia N. Tonin, Robert Zeillinger, Thorsten Zenz, Joseph F. Fraumeni Jr, Peter E.M. Taschner, Pierre Hainaut and Thierry Soussi
Cancer Res March 2 2017 DOI: 10.1158/0008-5472.CAN-16-2179
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Cancer Research Online ISSN: 1538-7445
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