Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients.

Massengill, James B; Sample, Klarke M; Pilarski, Robert; McElroy, Joseph; Davidorf, Frederick H; Cebulla, Colleen M; Abdel-Rahman, Mohamed H

Massengill, James B; Sample, Klarke M; Pilarski, Robert; McElroy, Joseph; Davidorf, Frederick H; Cebulla, Colleen M; Abdel-Rahman, Mohamed H.

Afiliação

Massengill JB; Department of Ophthalmology, The Ohio State University, Columbus, Ohio.
Sample KM; Department of Ophthalmology, The Ohio State University, Columbus, Ohio.
Pilarski R; Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio.
McElroy J; Center for Biostatistics, Department of Biomedical Informatics, The Ohio State University, Columbus, Ohio.
Davidorf FH; Department of Ophthalmology, The Ohio State University, Columbus, Ohio.
Cebulla CM; Department of Ophthalmology, The Ohio State University, Columbus, Ohio.
Abdel-Rahman MH; Department of Ophthalmology, The Ohio State University, Columbus, Ohio.

Genes Chromosomes Cancer ; 57(9): 478-481, 2018 09.

Article em En | MEDLINE | ID: mdl-29761599

Assuntos

Predisposição Genética para Doença; Neoplasias/genética; Proteínas Supressoras de Tumor/genética; Ubiquitina Tiolesterase/genética; Bases de Dados Genéticas; Exoma/genética; Feminino; Humanos; Masculino; Neoplasias/patologia; Linhagem; Fenótipo; Polimorfismo de Nucleotídeo Único/genética

Palavras-chave

BAP1; familial cancer; germline mutation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Proteínas Supressoras de Tumor / Ubiquitina Tiolesterase / Neoplasias Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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