Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31BRCA2Genetic Variants-Reference-Cited by-同舟云学术

Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31BRCA2Genetic Variants

Published:2013-10-28 Issue:1 Volume:35 Page:53-57
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

de Garibay Gorka Ruiz¹,Acedo Alberto²,García-Casado Zaida³,Gutiérrez-Enríquez Sara⁴,Tosar Alicia¹,Romero Atocha¹,Garre Pilar¹,Llort Gemma⁵,Thomassen Mads⁶,Díez Orland⁷,Pérez-Segura Pedro⁸,Díaz-Rubio Eduardo¹⁸,Velasco Eladio A.²,Caldés Trinidad¹,de la Hoya Miguel¹

Affiliation:

1. Laboratorio de Oncología Molecular; Instituto de Investigación Sanitaria San Carlos (IdISSC); Madrid Spain

2. Grupo de Splicing y Cáncer; Instituto de Biología y Genética Molecular (CSIC-UVa), Sanz y Forés 3; Valladolid 47003 Spain

3. Laboratory of Molecular Biology; Fundación Instituto Valenciano de Oncología; Valencia Spain

4. Oncogenetics Group; Vall d'Hebron Institute of Oncology (VHIO); Universitat Autonoma de Barcelona; Barcelona Spain

5. Unidad de Consejo Genético; Servicio de Oncología Médica. Instituto Oncológico del Vallés; Corporación Sanitaria Parc Taulí, Consorcio Sanitario de Terrassa; Barcelona Spain

6. Department of Clinical Genetics; Odense University Hospital, Soender Boulevard 29; Odense C 5000 Denmark

7. Oncogenetics Group; University Hospital Vall d'Hebron; Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Research Institute (VHIR); Universitat Autònoma de Barcelona; Barcelona Spain

8. Servicio de Oncología Médica; Hospital Clínico San Carlos; Madrid Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes;Acedo;Breast Cancer Res,2012

2. Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay;Biswas;Hum Mol Genet,2012

3. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene;Bonnet;J Med Genet,2008

4. Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families;Garibay;Eur J Hum Genet,2013

5. Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence;Juan Jiménez;Fam Cancer.,2013

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