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Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Valenzuela-Palomo, Alberto; Bueno-Martínez, Elena; Sanoguera-Miralles, Lara; Lorca, Víctor; Fraile-Bethencourt, Eugenia; Esteban-Sánchez, Ada; Gómez-Barrero, Susana; Carvalho, Sara; Allen, Jamie; García-Álvarez, Alicia; Pérez-Segura, Pedro; Dorling, Leila; Easton, Douglas F; Devilee, Peter; Vreeswijk, Maaike Pg; de la Hoya, Miguel; Velasco, Eladio A.
Afiliação
  • Valenzuela-Palomo A; Splicing and Genetic Susceptibility to Cancer, Unidad de Excelencia Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas (CSIC-UVa), Valladolid, Spain.
  • Bueno-Martínez E; Splicing and Genetic Susceptibility to Cancer, Unidad de Excelencia Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas (CSIC-UVa), Valladolid, Spain.
  • Sanoguera-Miralles L; Splicing and Genetic Susceptibility to Cancer, Unidad de Excelencia Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas (CSIC-UVa), Valladolid, Spain.
  • Lorca V; Molecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Fraile-Bethencourt E; Splicing and Genetic Susceptibility to Cancer, Unidad de Excelencia Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas (CSIC-UVa), Valladolid, Spain.
  • Esteban-Sánchez A; Knight Cancer Research Building, Portland, OR, USA.
  • Gómez-Barrero S; Molecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Carvalho S; VISAVET Health Surveillance Centre, Complutense University, Madrid, Spain.
  • Allen J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • García-Álvarez A; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Pérez-Segura P; Splicing and Genetic Susceptibility to Cancer, Unidad de Excelencia Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas (CSIC-UVa), Valladolid, Spain.
  • Dorling L; Molecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Devilee P; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Vreeswijk MP; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • de la Hoya M; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Velasco EA; Molecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
J Pathol ; 256(3): 321-334, 2022 03.
Article em En | MEDLINE | ID: mdl-34846068
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias da Mama / Biomarcadores Tumorais / Processamento Alternativo / Sítios de Splice de RNA / Proteína do Grupo de Complementação N da Anemia de Fanconi Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias da Mama / Biomarcadores Tumorais / Processamento Alternativo / Sítios de Splice de RNA / Proteína do Grupo de Complementação N da Anemia de Fanconi Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article