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

Splicing disruption is a common mechanism of gene inactivation associated with germline variants of susceptibility genes. To study the role of BRCA2 mis‐splicing in hereditary breast/ovarian cancer (HBOC), we performed a comprehensive analysis of variants from BRCA2 exons 2–9, as well as the initial...

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Veröffentlicht in:	The Journal of pathology 2019-08, Vol.248 (4), p.409-420
Hauptverfasser:	Fraile‐Bethencourt, Eugenia, Valenzuela‐Palomo, Alberto, Díez‐Gómez, Beatriz, Goina, Elisa, Acedo, Alberto, Buratti, Emanuele, Velasco, Eladio A
Format:	Artikel
Sprache:	eng
Schlagworte:	Assaying Bioinformatics Biomarkers, Tumor - genetics Biomarkers, Tumor - metabolism BRCA2 BRCA2 protein BRCA2 Protein - genetics BRCA2 Protein - metabolism Breast cancer Breast Neoplasms - genetics Breast Neoplasms - metabolism Breast Neoplasms - pathology Capillary electrophoresis Computational Biology Deoxyribonucleic acid Disruption DNA DNA variants Electrophoresis Enhancers Exon skipping Exons Female Gene Deletion Genes, BRCA2 Genetic engineering Hereditary Breast and Ovarian Cancer Syndrome - genetics Hereditary Breast and Ovarian Cancer Syndrome - metabolism Hereditary Breast and Ovarian Cancer Syndrome - pathology Humans hybrid minigenes Inactivation Ovarian cancer Regulatory sequences RNA Splicing Silencers Splicing Transcription VUS
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