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Capillary Electrophoresis Analysis of Conventional Splicing Assays

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Authors:
  • de Garibay, Gorka Ruiz ;
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    Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Madrid, Spain.
  • Acedo, Alberto ;
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    unknown
  • García-Casado, Zaida ;
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    unknown
  • Gutiérrez-Enríquez, Sara ;
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    unknown
  • Tosar, Alicia ;
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    unknown
  • Romero, Atocha ;
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    unknown
  • Garre, Pilar ;
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    unknown
  • Llort, Gemma ;
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    unknown
  • Thomassen, Mads ;
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    Human Genetics, Department of Clinical Research, Faculty of Health Sciences, SDU
  • Díez, Orland ;
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    unknown
  • Pérez-Segura, Pedro ;
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    unknown
  • Díaz-Rubio, Eduardo ;
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    unknown
  • Velasco, Eladio A ;
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    unknown
  • Caldés, Trinidad ;
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    unknown
  • de la Hoya, Miguel
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    unknown
Subtitle:
IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants
DOI:
10.1002/humu.22456
Abstract:
Rare sequence variants in "high-risk" disease genes, often referred as unclassified variants (UVs), pose a serious challenge to genetic testing. However, UVs resulting in splicing alterations can be readily assessed by in vitro assays. Unfortunately, analytical and clinical interpretation of these assays is often challenging. Here, we explore this issue by conducting splicing assays in 31 BRCA2 genetic variants. All variants were assessed by RT-PCR followed by capillary electrophoresis and direct sequencing. If assays did not produce clear-cut outputs (Class-2 or Class-5 according to analytical International Agency for Research on Cancer guidelines), we performed qPCR and/or minigene assays. The latter were performed with a new splicing vector (pSAD) developed by authors of the present manuscript (patent #P201231427 CSIC). We have identified three clinically relevant Class-5 variants (c.682-2A>G, c.7617+1G>A, and c.8954-5A>G), and 27 analytical Class-2 variants (not inducing splicing alterations). In addition, we demonstrate that rs9534262 (c.7806-14T>C) is a BRCA2 splicing quantitative trait locus.
Type:
Journal article
Language:
English
Published in:
Human Mutation, 2014, Vol 35, Issue 1, p. 53-7
Main Research Area:
Medical science
Publication Status:
Published
Review type:
Peer Review
Submission year:
2014
Scientific Level:
Scientific
ID:
255302293

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