Basal cell carcinomas developing independently from BAP1-tumor predisposition syndrome in a patient with bilateral uveal melanoma: Diagnostic challenges to identify patients with BAP1-TPDS.

Melzer, Charlotte; Sharma, Amit; Peters, Sophia; Aretz, Stefan; Biswas, Arijit; Holz, Frank G; Loeffler, Karin U; Herwig-Carl, Martina C

Melzer, Charlotte; Sharma, Amit; Peters, Sophia; Aretz, Stefan; Biswas, Arijit; Holz, Frank G; Loeffler, Karin U; Herwig-Carl, Martina C.

Afiliación

Melzer C; Department of Ophthalmology, Division of Ophthalmic Pathology, University Hospital Bonn, Bonn, Germany.
Sharma A; Department of Ophthalmology, Division of Ophthalmic Pathology, University Hospital Bonn, Bonn, Germany.
Peters S; Institute of Human Genetics, University of Bonn, Bonn, Germany.
Aretz S; Institute of Human Genetics, University of Bonn, Bonn, Germany.
Biswas A; Center for Hereditary Tumor Syndromes, University of Bonn, Bonn, Germany.
Holz FG; Institute of Experimental Hematology and Transfusion Medicine, University Clinic of Bonn, Bonn, Germany.
Loeffler KU; Department of Ophthalmology, Division of Ophthalmic Pathology, University Hospital Bonn, Bonn, Germany.
Herwig-Carl MC; Department of Ophthalmology, Division of Ophthalmic Pathology, University Hospital Bonn, Bonn, Germany.

Genes Chromosomes Cancer ; 58(6): 357-364, 2019 06.

Article en En | MEDLINE | ID: mdl-30578689

Asunto(s)

Carcinoma Basocelular/genética; Melanoma/genética; Proteínas Supresoras de Tumor/genética; Ubiquitina Tiolesterasa/genética; Neoplasias de la Úvea/genética; Anciano; Carcinoma Basocelular/patología; Diagnóstico Diferencial; Femenino; Mutación de Línea Germinal; Humanos; Melanoma/patología; Dominios Proteicos; Proteínas Supresoras de Tumor/química; Ubiquitina Tiolesterasa/química; Neoplasias de la Úvea/patología

Palabras clave

BAP1; BAP1-tumor predisposition syndrome; bilateral uveal melanoma; immunohistochemistry; in silico analysis

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias de la Úvea / Carcinoma Basocelular / Proteínas Supresoras de Tumor / Ubiquitina Tiolesterasa / Melanoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Aged / Female / Humans Idioma: En Revista: Genes Chromosomes Cancer Asunto de la revista: BIOLOGIA MOLECULAR / NEOPLASIAS Año: 2019 Tipo del documento: Article País de afiliación: Alemania

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