Art

J-GLOBAL ID：202002270612221842   Reference number：20A2757050

BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1 -inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy

BAP1腫瘍素因症候群症例報告:ダーモスコピーおよび共焦点顕微鏡を含むBAP1不活化メラノサイト腫瘍(BIMT)の病理学的および臨床的側面【JST・京大機械翻訳】

Author (11)： Sa Bianca Costa Soares de (Skin Cancer Department, A.C. Camargo Cancer Center, Sao Paulo, Brazil) ,  Macedo Mariana Petaccia de (Department of Pathology, A.C. Camargo Cancer Center, Sao Paulo, Brazil) ,  Torrezan Giovana Tardin (Laboratory of Genomics and Molecular Biology, A.C. Camargo Cancer Center, Sao Paulo, Brazil) ,  Torrezan Giovana Tardin (National Institute of Science and Technology in Oncogenomics and Therapeutic Innovation, A.C. Camargo Cancer Center, Sao Paulo, Brazil) ,  Braga Juliana Casagrande Tavoloni (Skin Cancer Department, A.C. Camargo Cancer Center, Sao Paulo, Brazil) ,  Fidalgo Felipe (Laboratory of Genomics and Molecular Biology, A.C. Camargo Cancer Center, Sao Paulo, Brazil) ,  Moredo Luciana Facure (Skin Cancer Department, A.C. Camargo Cancer Center, Sao Paulo, Brazil) ,  Lellis Rute (Department of Pathology, A.C. Camargo Cancer Center, Sao Paulo, Brazil) ,  Duprat Joao Pereira (Skin Cancer Department, A.C. Camargo Cancer Center, Sao Paulo, Brazil) ,  Carraro Dirce Maria (Laboratory of Genomics and Molecular Biology, A.C. Camargo Cancer Center, Sao Paulo, Brazil) ,  Carraro Dirce Maria (National Institute of Science and Technology in Oncogenomics and Therapeutic Innovation, A.C. Camargo Cancer Center, Sao Paulo, Brazil)
Material： BMC Cancer (Web)
Volume： 19  Issue： 1  Page： 1-8  Publication year： 2019 
JST Material Number： U7305A  ISSN： 1471-2407  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： BRCA1 associated-protein 1 (BA...

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Thesaurus term： *tumor ,  protein ,  multiplex ,  pathogenicity ,  *melanocyte ,  skin disorder ,  inactivation ,  case report ,  mesothelioma ,  *confocal microscope ,  renal cell carcinoma
Semi thesaurus term： BRCA1蛋白質 ,  *ダーモスコピー ,  皮膚科医 ,  生殖系列 , 【Automatic Indexing@JST】

Author keywords (5)： BIMT ,  BAP1 ,  Hereditary cancer syndromes ,  Dermoscopy ,  Confocal microscopy

JST classification (2)： Carcinogenic mechanisms and factors  (GE02020C) ,  Molecular genetics in general  (EC02010J)

Reference (22)：

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• J Natl Cancer Inst; Comprehensive study of the clinical phenotype of Germline BAP1 variant-carrying families worldwide; S Walpole, AL Pritchard, CM Cebulla, R Pilarski, M Stautberg, FH Davidorf; 110; 12; 2018; 1328-1341; 10.1093/jnci/djy171; citation_id=CR3
• Nat Genet; Germline mutations in BAP1 predispose to melanocytic tumors; T Wiesner, AC Obenauf, R Murali, I Fried, KG Griewank, P Ulz; 43; 2011; 1018-1021; 10.1038/ng.910; citation_id=CR4
• Am J Surg Pathol; A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression; T Wiesner, R Murali, I Fried, L Cerroni, K Busam, H Kutzner; 36; 2012; 818-830; 10.1097/PAS.0b013e3182498be5; citation_id=CR5

Terms in the title (10)： BAP1 ,  腫瘍 ,  症候群 ,  症例報告 ,  ダーモスコピー ,  共焦点顕微鏡 ,  不活化 ,  メラノサイト ,  病理学 ,  臨床