دورية أكاديمية
أعرض في EDS

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

التفاصيل البيبلوغرافية
العنوان: Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
المؤلفون: Walpole S; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; University of Queensland, Brisbane, QLD, Australia., Pritchard AL; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; The University of the Highlands and Islands, Inverness, UK., Cebulla CM; Department of Ophthalmology and Visual Science, The Ohio State University, Columbus, OH., Pilarski R; Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, OH., Stautberg M; Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, OH., Davidorf FH; Department of Ophthalmology and Visual Science, The Ohio State University, Columbus, OH., de la Fouchardière A; Département of Biopathology, Centre Leon Bérard, Lyon, France., Cabaret O; Département de Biopathologie, Gustave Roussy, Université Paris-Saclay, Villejuif, France., Golmard L; Département De Biologie Des Tumeurs, Institut Curie, Paris, France., Stoppa-Lyonnet D; Département De Biologie Des Tumeurs, Institut Curie, Paris, France.; 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.; Sorbonne Paris Cité, University Paris-Descartes, Paris, France., Garfield E; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL., Njauw CN; Department of Dermatology, Wellman Center for Photomedicine, Massachusetts General Hospital, Boston, MA., Cheung M; Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, PA., Turunen JA; Folkhälsan Institute of Genetics, Helsinki, Finland.; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Repo P; Folkhälsan Institute of Genetics, Helsinki, Finland.; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Järvinen RS; Folkhälsan Institute of Genetics, Helsinki, Finland.; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., van Doorn R; Department of Dermatology, LUMC, Leiden, The Netherlands., Jager MJ; Department of Ophthalmology, LUMC, Leiden, The Netherlands., Luyten GPM; Department of Ophthalmology, LUMC, Leiden, The Netherlands., Marinkovic M; Department of Ophthalmology, LUMC, Leiden, The Netherlands., Chau C; Department of Ophthalmology, LUMC, Leiden, The Netherlands., Potrony M; Dermatology Department, Melanoma Unit, Hospital Clinic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain., Höiom V; Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Helgadottir H; Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Pastorino L; Department of Internal Medicine and Medical Specialties and Genetics of Rare Cancers, University of Genoa, Ospedale Policlinico San Martino, Genoa, Italy., Bruno W; Department of Internal Medicine and Medical Specialties and Genetics of Rare Cancers, University of Genoa, Ospedale Policlinico San Martino, Genoa, Italy., Andreotti V; Department of Internal Medicine and Medical Specialties and Genetics of Rare Cancers, University of Genoa, Ospedale Policlinico San Martino, Genoa, Italy., Dalmasso B; Department of Internal Medicine and Medical Specialties and Genetics of Rare Cancers, University of Genoa, Ospedale Policlinico San Martino, Genoa, Italy., Ciccarese G; Department of Internal Medicine and Medical Specialties and Genetics of Rare Cancers, University of Genoa, Ospedale Policlinico San Martino, Genoa, Italy., Queirolo P; Medical Oncology Unit, Ospedale Policlinico San Martino, Genoa, Italy., Mastracci L; Department of Surgical and Diagnostic Sciences, Pathology Unit, University of Genoa and Ospedale Policlinico San Martino, Genoa, Italy., Wadt K; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Kiilgaard JF; Department of Ophthalmology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Speicher MR; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, Graz, Austria., van Poppelen N; Department of Ophthalmology.; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Kilic E; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Al-Jamal RT; Department of Ophthalmology, Ocular Oncology Service, Helsinki University Central Hospital, Helsinki, Finland., Dianzani I; Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy., Betti M; Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy., Bergmann C; Bioscientia Center for Human Genetics, Ingelheim, Germany.; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, Freiburg, Germany., Santagata S; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA., Dahiya S; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO., Taibjee S; Department of Dermatology, Dorset County Hospital NHS Foundation Trust, Dorchester, UK., Burke J; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, TAS, Australia., Poplawski N; Adult Genetics Unit, Medicine Directorate, Royal Adelaide Hospital, Adelaide, SA, Australia.; University Department of Paediatrics, University of Adelaide, Adelaide, SA, Australia., O'Shea SJ; Dermatology Department, Mater Private Hospital Cork, Citygate, Mahon, Cork, Ireland., Newton-Bishop J; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Adlard J; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Adams DJ; Experimental Cancer Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Lane AM; Department of Ophthalmology, Ocular Melanoma Center and Retina Service, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA., Kim I; Department of Ophthalmology, Ocular Melanoma Center and Retina Service, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA., Klebe S; Department of Anatomical Pathology, Flinders University and SA Pathology at Flinders Medical Centre, Adelaide, SA, Australia., Racher H; Impact Genetics, Bowmanville, Ontario, Canada., Harbour JW; Bascom Palmer Eye Institute, Sylvester Comprehensive Cancer Center and Interdisciplinary Stem Cell Institute, University of Miami Miller School of Medicine, Miami, FL., Nickerson ML; Laboratory of Translational Genomics, National Cancer Institute, Bethesda, MD., Murali R; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY., Palmer JM; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Howlie M; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Symmons J; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Hamilton H; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Warrier S; Queensland Ocular Oncology Service, The Terrace Eye Centre, Brisbane, QLD, Australia., Glasson W; Queensland Ocular Oncology Service, The Terrace Eye Centre, Brisbane, QLD, Australia., Johansson P; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Robles-Espinoza CD; Experimental Cancer Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Santiago de Querétaro, Mexico., Ossio R; Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Santiago de Querétaro, Mexico., de Klein A; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Puig S; Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain.; Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Ghiorzo P; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL., Nielsen M; Department of Clinical Genetics, LUMC, Leiden, The Netherlands., Kivelä TT; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Tsao H; Department of Dermatology, Wellman Center for Photomedicine, Massachusetts General Hospital, Boston, MA.; Massachusetts General Hospital Cancer Center, Boston, MA., Testa JR; Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, PA., Gerami P; Department of Internal Medicine and Medical Specialties and Genetics of Rare Cancers, University of Genoa, Ospedale Policlinico San Martino, Genoa, Italy.; The Robert H. Lurie Cancer Center, Northwestern University, Chicago, IL., Stern MH; Département De Biologie Des Tumeurs, Institut Curie, Paris, France.; 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., Paillerets BB; Département de Biopathologie, Gustave Roussy, Université Paris-Saclay, Villejuif, France.; INSERM UMR 1186, Integrative Tumor Immunology and Genetic Oncology, Gustave Roussy, EPHE, PSL, Faculté de Médecine, Université Paris-Sud, Université Paris-Saclay, Villejuif, France., Abdel-Rahman MH; Department of Ophthalmology and Visual Science, The Ohio State University, Columbus, OH.; Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, OH.; Department of Pathology, Menoufiya University, Shebin El-Kom, Egypt., Hayward NK; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
المصدر: Journal of the National Cancer Institute [J Natl Cancer Inst] 2018 Dec 01; Vol. 110 (12), pp. 1328-1341.
نوع المنشور: Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
اللغة: English
بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 7503089 Publication Model: Print Cited Medium: Internet ISSN: 1460-2105 (Electronic) Linking ISSN: 00278874 NLM ISO Abbreviation: J Natl Cancer Inst Subsets: MEDLINE
أسماء مطبوعة: Publication: <2003-> : Cary, NC : Oxford University Press
Original Publication: Bethesda, Md., U. S. Dept. of Health, Education, and Welfare, Public Health Service, National Institutes of Health; Washington, for sale by the Supt. of Docs., U. S. Govt. Print. Off.
مواضيع طبية MeSH: Genetic Association Studies* , Genetic Predisposition to Disease* , Germ-Line Mutation*, Neoplastic Syndromes, Hereditary/*diagnosis , Neoplastic Syndromes, Hereditary/*genetics , Tumor Suppressor Proteins/*genetics , Ubiquitin Thiolesterase/*genetics, Age of Onset ; Alleles ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Neoplastic Syndromes, Hereditary/epidemiology ; Phenotype ; Risk Assessment
مستخلص: Background: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and cutaneous BAP1-inactivated melanocytic tumors. However, the full spectrum of tumors associated with the syndrome is yet to be determined. Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and their families, including genetic counseling and surveillance for new tumors.
Methods: We collated germline variant status, tumor diagnoses, and information on BAP1 immunohistochemistry or loss of somatic heterozygosity on 106 published and 75 unpublished BAP1 germline variant-positive families worldwide to better characterize the genotypes and phenotypes associated with the BAP1-TPDS. Tumor spectrum and ages of onset were compared between missense and null variants. All statistical tests were two-sided.
Results: The 181 families carried 140 unique BAP1 germline variants. The collated data confirmed the core tumor spectrum associated with the BAP1-TPDS and showed that some families carrying missense variants can exhibit this phenotype. A variety of noncore BAP1-TPDS -associated tumors were found in families of variant carriers. Median ages of onset of core tumor types were lower in null than missense variant carriers for all tumors combined (P < .001), mesothelioma (P < .001), cutaneous melanoma (P < .001), and nonmelanoma skin cancer (P < .001).
Conclusions: This analysis substantially increases the number of pathogenic BAP1 germline variants and refines the phenotype. It highlights the need for a curated registry of germline variant carriers for proper assessment of the clinical phenotype of the BAP1-TPDS and pathogenicity of new variants, thus guiding management of patients and informing areas requiring further research.
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معلومات مُعتمدة: 10589 United Kingdom CRUK_ Cancer Research UK; R21 CA191943 United States CA NCI NIH HHS; R01 CA083115 United States CA NCI NIH HHS; 19167 United Kingdom CRUK_ Cancer Research UK; K24 CA149202 United States CA NCI NIH HHS; R01 CA175691 United States CA NCI NIH HHS; UL1 RR025755 United States RR NCRR NIH HHS; P30 CA016058 United States CA NCI NIH HHS; K08 EY022672 United States EY NEI NIH HHS; P30 CA008748 United States CA NCI NIH HHS; 204562/Z/16/Z United Kingdom WT_ Wellcome Trust
المشرفين على المادة: 0 (BAP1 protein, human)
0 (Tumor Suppressor Proteins)
EC 3.4.19.12 (Ubiquitin Thiolesterase)
تواريخ الأحداث: Date Created: 20181206 Date Completed: 20190930 Latest Revision: 20240724
رمز التحديث: 20240725
مُعرف محوري في PubMed: PMC6292796
DOI: 10.1093/jnci/djy171
PMID: 30517737
قاعدة البيانات: MEDLINE
الوصف
تدمد:1460-2105
DOI:10.1093/jnci/djy171