Mis‐splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays-Reference-Cited by-同舟云学术

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Mis‐splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays

Published:2019-04-23 Issue:4 Volume:248 Page:409-420
ISSN:0022-3417
Container-title:The Journal of Pathology
language:en
Short-container-title:J. Pathol.

Author:

Fraile‐Bethencourt Eugenia¹,Valenzuela‐Palomo Alberto¹,Díez‐Gómez Beatriz¹,Goina Elisa²,Acedo Alberto¹,Buratti Emanuele²,Velasco Eladio A¹^ORCID

Affiliation:

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

2. Molecular Pathology GroupInternational Centre for Genetic Engineering and Biotechnology Trieste Italy

Funder

Consejería de Educación, Junta de Castilla y León

Instituto de Salud Carlos III

Universidad de Valladolid

Publisher

Wiley

Subject

Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/path.5268

Reference52 articles.

1. The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

2. Hereditary breast and ovarian cancer: new genes in confined pathways

3. The emerging landscape of breast cancer susceptibility

4. The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins

5. BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance

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1. BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance;Molecular Cancer;2024-08-05

2. 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

3. Reclassifying BRCA1 c.4358-2A > G and BRCA2 c.475 + 5G > C variants from “Uncertain Significance” to “Pathogenic” based on minigene assays and clinical evidence;Journal of Cancer Research and Clinical Oncology;2024-02-01

4. Functional analysis of the CTNS gene exonic variants predicted to affect splicing;Clinical Genetics;2023-11-27

5. Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants;Clinical Chemistry;2023-09-19

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