Comprehensive Study of the Clinical Phenotype of GermlineBAP1Variant-Carrying Families Worldwide-Reference-Cited by-同舟云学术

Comprehensive Study of the Clinical Phenotype of GermlineBAP1Variant-Carrying Families Worldwide

Published:2018-12-01 Issue:12 Volume:110 Page:1328-1341
ISSN:0027-8874
Container-title:JNCI: Journal of the National Cancer Institute
language:en
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Author:

Walpole Sebastian¹²,Pritchard Antonia L¹³,Cebulla Colleen M⁴,Pilarski Robert⁵,Stautberg Meredith⁵,Davidorf Frederick H⁴,de la Fouchardière Arnaud⁶,Cabaret Odile⁷,Golmard Lisa⁸,Stoppa-Lyonnet Dominique⁸⁹¹⁰,Garfield Erin¹¹,Njauw Ching-Ni¹²,Cheung Mitchell¹³,Turunen Joni A¹⁴¹⁵,Repo Pauliina¹⁴¹⁵,Järvinen Reetta-Stiina¹⁴¹⁵,van Doorn Remco¹⁶,Jager Martine J¹⁷,Luyten Gregorius P M¹⁷,Marinkovic Marina¹⁷,Chau Cindy¹⁷,Potrony Miriam¹⁸¹⁹,Höiom Veronica²⁰,Helgadottir Hildur²⁰,Pastorino Lorenza²¹,Bruno William²¹,Andreotti Virginia²¹,Dalmasso Bruna²¹,Ciccarese Giulia²¹,Queirolo Paola²²,Mastracci Luca²³,Wadt Karin²⁴,Kiilgaard Jens Folke²⁵,Speicher Michael R²⁶,van Poppelen Natasha²⁷²⁸,Kilic Emine²⁸,Al-Jamal Rana’a T²⁹,Dianzani Irma³⁰,Betti Marta³⁰,Bergmann Carsten³¹³²,Santagata Sandro³³,Dahiya Sonika³⁴,Taibjee Saleem³⁵,Burke Jo³⁶,Poplawski Nicola³⁷³⁸,O’Shea Sally J³⁹,Newton-Bishop Julia⁴⁰,Adlard Julian⁴⁰,Adams David J⁴¹,Lane Anne-Marie⁴²,Kim Ivana⁴²,Klebe Sonja⁴³,Racher Hilary⁴⁴,Harbour J William⁴⁵,Nickerson Michael L⁴⁶,Murali Rajmohan⁴⁷,Palmer Jane M¹,Howlie Madeleine¹,Symmons Judith¹,Hamilton Hayley¹,Warrier Sunil⁴⁸,Glasson William⁴⁸,Johansson Peter¹,Robles-Espinoza Carla Daniela⁴¹⁴⁹,Ossio Raul⁴⁹,de Klein Annelies²⁸,Puig Susana¹⁹²⁰,Ghiorzo Paola¹¹,Nielsen Maartje⁵⁰,Kivelä Tero T¹⁵,Tsao Hensin¹²⁵¹,Testa Joseph R¹³,Gerami Pedram²¹⁵²,Stern Marc-Henri⁸⁹,Paillerets Brigitte Bressac-de⁷⁵³,Abdel-Rahman Mohamed H⁴⁵⁵⁴,Hayward Nicholas K¹

Affiliation:

1. QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia

2. University of Queensland, Brisbane, QLD, Australia

3. The University of the Highlands and Islands, Inverness, UK

4. Department of Ophthalmology and Visual Science, The Ohio State University, Columbus, OH

5. Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, OH

6. Département of Biopathology, Centre Leon Bérard, Lyon, France

7. Département de Biopathologie, Gustave Roussy, Université Paris-Saclay, Villejuif, France

8. Département De Biologie Des Tumeurs, Institut Curie, Paris, France

9. Institut Curie, PSL Research University, INSERM U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe labellisée par la Ligue Nationale contre le Cancer, Paris, France

10. Sorbonne Paris Cité, University Paris-Descartes, Paris, France

11. Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL

12. Department of Dermatology, Wellman Center for Photomedicine, Massachusetts General Hospital, Boston, MA

13. Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, PA

14. Folkhälsan Institute of Genetics, Helsinki, Finland

15. Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

16. Department of Dermatology, LUMC, Leiden, The Netherlands

17. Department of Ophthalmology, LUMC, Leiden, The Netherlands

18. Dermatology Department, Melanoma Unit, Hospital Clinic de Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain

19. Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain

20. Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden

21. Department of Internal Medicine and Medical Specialties and Genetics of Rare Cancers, University of Genoa, Ospedale Policlinico San Martino, Genoa, Italy

22. Medical Oncology Unit, Ospedale Policlinico San Martino, Genoa, Italy

23. Department of Surgical and Diagnostic Sciences, Pathology Unit, University of Genoa and Ospedale Policlinico San Martino, Genoa, Italy

24. Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark

25. Department of Ophthalmology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

26. Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, Graz, Austria

27. Department of Ophthalmology

28. Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands

29. Department of Ophthalmology, Ocular Oncology Service, Helsinki University Central Hospital, Helsinki, Finland

30. Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy

31. Bioscientia Center for Human Genetics, Ingelheim, Germany

32. Department of Medicine IV, Faculty of Medicine, Medical Center—University of Freiburg, University of Freiburg, Freiburg, Germany

33. Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA

34. Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO

35. Department of Dermatology, Dorset County Hospital NHS Foundation Trust, Dorchester, UK

36. Tasmanian Clinical Genetics Service, Royal Hobart Hospital, TAS, Australia

37. Adult Genetics Unit, Medicine Directorate, Royal Adelaide Hospital, Adelaide, SA, Australia

38. University Department of Paediatrics, University of Adelaide, Adelaide, SA, Australia

39. Dermatology Department, Mater Private Hospital Cork, Citygate, Mahon, Cork, Ireland

40. Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK

41. Experimental Cancer Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK

42. Department of Ophthalmology, Ocular Melanoma Center and Retina Service, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA

43. Department of Anatomical Pathology, Flinders University and SA Pathology at Flinders Medical Centre, Adelaide, SA, Australia

44. Impact Genetics, Bowmanville, Ontario, Canada

45. Bascom Palmer Eye Institute, Sylvester Comprehensive Cancer Center and Interdisciplinary Stem Cell Institute, University of Miami Miller School of Medicine, Miami, FL

46. Laboratory of Translational Genomics, National Cancer Institute, Bethesda, MD

47. Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY

48. Queensland Ocular Oncology Service, The Terrace Eye Centre, Brisbane, QLD, Australia

49. Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Santiago de Querétaro, Mexico

50. Department of Clinical Genetics, LUMC, Leiden, The Netherlands

51. Massachusetts General Hospital Cancer Center, Boston, MA

52. The Robert H. Lurie Cancer Center, Northwestern University, Chicago, IL

53. INSERM UMR 1186, Integrative Tumor Immunology and Genetic Oncology, Gustave Roussy, EPHE, PSL, Faculté de Médecine, Université Paris-Sud, Université Paris-Saclay, Villejuif, France

54. Department of Pathology, Menoufiya University, Shebin El-Kom, Egypt

Funder

Australian Government Research Training Program Scholarship

National Health and Medical Research Council of Australia

National Eye Institute of the National Institutes of Health

National Institutes of Health

Spanish Fondo de Investigaciones Sanitarias

National Cancer Institute

NIH/NCI Cancer Center

Publisher

Oxford University Press (OUP)

Subject