Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

Klonowska, Katarzyna; Grevelink, Joannes M; Giannikou, Krinio; Ogorek, Barbara A; Herbert, Zachary T; Thorner, Aaron R; Darling, Thomas N; Moss, Joel; Kwiatkowski, David J

Klonowska, Katarzyna; Grevelink, Joannes M; Giannikou, Krinio; Ogorek, Barbara A; Herbert, Zachary T; Thorner, Aaron R; Darling, Thomas N; Moss, Joel; Kwiatkowski, David J.

Afiliación

Klonowska K; Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Grevelink JM; Boston Dermatology and Laser Center, Massachusetts General Hospital, Boston, Massachusetts, USA.
Giannikou K; Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Ogorek BA; Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Herbert ZT; Molecular Biology Core Facilities and.
Thorner AR; Center for Cancer Genomics, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
Darling TN; Department of Dermatology, Uniformed Services University, Bethesda, Maryland, USA.
Moss J; Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.
Kwiatkowski DJ; Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

J Clin Invest ; 132(10)2022 05 16.

Article en En | MEDLINE | ID: mdl-35358092

Asunto(s)

Neoplasias Faciales; Esclerosis Tuberosa; Neoplasias Faciales/genética; Humanos; Mutación; Nucleótidos; Esclerosis Tuberosa/diagnóstico; Esclerosis Tuberosa/genética; Esclerosis Tuberosa/patología; Proteína 1 del Complejo de la Esclerosis Tuberosa/genética; Proteína 2 del Complejo de la Esclerosis Tuberosa/genética; Proteínas Supresoras de Tumor/genética

Palabras clave

Dermatology; Genetics; Molecular genetics; Skin cancer; Tumor suppressors

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Esclerosis Tuberosa / Neoplasias Faciales Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Clin Invest Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos

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