Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons-Reference-Cited by-同舟云学术

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Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

Published:2015-02 Issue:2 Volume:36 Page:210-221
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Acedo Alberto¹,Hernández‐Moro Cristina¹,Curiel‐García Álvaro¹,Díez‐Gómez Beatriz¹,Velasco Eladio A.¹

Affiliation:

1. Splicing and Genetic Susceptibility to Cancer Instituto de Biología y Genética Molecular (CSIC‐UVa) Valladolid Spain

Funder

Instituto de Salud Carlos III (Spanish Ministry of Economy and Competitiveness)

ConsejerÃa de Sanidad (Junta de Castilla y LeÃ³n)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22725

Reference43 articles.

1. Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes

2. Missed threads

3. NF1mRNA biogenesis: Effect of the genomic milieu in splicing regulation of theNF1exon 37 region

4. RNA-based analysis of BRCA1 and BRCA2 gene alterations

5. 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

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1. Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer‐rich regions and 38 spliceogenic variants;The Journal of Pathology;2024-02-09

2. Parallel DNA/RNA NGS Using an Identical Target Enrichment Panel in the Analysis of Hereditary Cancer Predisposition;Folia Biologica;2024

3. Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat–Wilson syndrome;European Journal of Medical Genetics;2023-12

4. Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model;Journal of Human Genetics;2023-09-20

5. Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia;International Journal of Molecular Sciences;2023-01-13

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