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Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer.
Montalban, Gemma; Bonache, Sandra; Moles-Fernández, Alejandro; Gisbert-Beamud, Alexandra; Tenés, Anna; Bach, Vanessa; Carrasco, Estela; López-Fernández, Adrià; Stjepanovic, Neda; Balmaña, Judith; Diez, Orland; Gutiérrez-Enríquez, Sara.
Afiliación
  • Montalban G; Oncogenetics Group, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain.
  • Bonache S; Oncogenetics Group, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain.
  • Moles-Fernández A; Oncogenetics Group, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain.
  • Gisbert-Beamud A; Oncogenetics Group, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain.
  • Tenés A; Area of Clinical and Molecular Genetics, University Hospital of Vall d'Hebron, Barcelona, Spain.
  • Bach V; Oncogenetics Group, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain.
  • Carrasco E; High Risk and Cancer Prevention Group, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain.
  • López-Fernández A; High Risk and Cancer Prevention Group, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain.
  • Stjepanovic N; High Risk and Cancer Prevention Group, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain.
  • Balmaña J; Medical Oncology Department, University Hospital of Vall d'Hebron, Barcelona, Spain.
  • Diez O; High Risk and Cancer Prevention Group, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain.
  • Gutiérrez-Enríquez S; Medical Oncology Department, University Hospital of Vall d'Hebron, Barcelona, Spain.
J Med Genet ; 56(2): 63-74, 2019 02.
Article en En | MEDLINE | ID: mdl-30472649
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Intrones / Proteína BRCA1 / Síndrome de Cáncer de Mama y Ovario Hereditario Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: España
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Intrones / Proteína BRCA1 / Síndrome de Cáncer de Mama y Ovario Hereditario Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: España