Setting a diagnostic benchmark for tumor BRCA testing: detection of BRCA1 and BRCA2 large genomic rearrangements in FFPE tissue - A pilot study.

Valtcheva, Nadejda; Nguyen-Sträuli, Bich Doan; Wagner, Ulrich; Freiberger, Sandra N; Varga, Zsuzsanna; Britschgi, Christian; Dedes, Konstantin J; Rechsteiner, Markus P

Valtcheva, Nadejda; Nguyen-Sträuli, Bich Doan; Wagner, Ulrich; Freiberger, Sandra N; Varga, Zsuzsanna; Britschgi, Christian; Dedes, Konstantin J; Rechsteiner, Markus P.

Afiliación

Valtcheva N; Department of Pathology and Molecular Pathology, University Hospital Zurich, 8091 Zurich, Switzerland. Electronic address: nt.valtcheva@gmail.com.
Nguyen-Sträuli BD; Department of Gynecology, Comprehensive Cancer Center Zurich, University Hospital Zurich, 8091 Zurich, Switzerland.
Wagner U; Department of Pathology and Molecular Pathology, University Hospital Zurich, 8091 Zurich, Switzerland.
Freiberger SN; Department of Pathology and Molecular Pathology, University Hospital Zurich, 8091 Zurich, Switzerland; University of Zurich, 8091 Zurich, Switzerland.
Varga Z; Department of Pathology and Molecular Pathology, University Hospital Zurich, 8091 Zurich, Switzerland.
Britschgi C; Department of Medical Oncology and Hematology, Comprehensive Cancer Center Zurich, University Hospital Zurich, 8091 Zurich, Switzerland.
Dedes KJ; Department of Gynecology, Comprehensive Cancer Center Zurich, University Hospital Zurich, 8091 Zurich, Switzerland.
Rechsteiner MP; Department of Pathology and Molecular Pathology, University Hospital Zurich, 8091 Zurich, Switzerland.

Exp Mol Pathol ; 123: 104705, 2021 12.

Article en En | MEDLINE | ID: mdl-34637782

Asunto(s)

Proteína BRCA1/genética; Proteína BRCA2/genética; Neoplasias/genética; Inhibidores de Poli(ADP-Ribosa) Polimerasas/uso terapéutico; Roturas del ADN de Doble Cadena/efectos de los fármacos; Reparación del ADN/efectos de los fármacos; Femenino; Reordenamiento Génico/genética; Genoma Humano/genética; Humanos; Pérdida de Heterocigocidad/genética; Masculino; Mutación; Neoplasias/tratamiento farmacológico; Neoplasias/patología

Palabras clave

BRCA; Large genomic rearrangements; Molecular diagnostics; Next generation sequencing; PARPi

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteína BRCA1 / Proteína BRCA2 / Inhibidores de Poli(ADP-Ribosa) Polimerasas / Neoplasias Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Male Idioma: En Revista: Exp Mol Pathol Año: 2021 Tipo del documento: Article

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