Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15

A relevant fraction of BRCA2 variants is associated with splicing alterations and with an increased risk of hereditary breast and ovarian cancer (HBOC). In this work, we have carried out a thorough study of variants from BRCA2 exons 14 and 15 reported at mutation databases. A total of 294 variants f...

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Dettagli Bibliografici
Pubblicato in:Front Genet
Autori principali: Fraile-Bethencourt, Eugenia, Valenzuela-Palomo, Alberto, Díez-Gómez, Beatriz, Caloca, María José, Gómez-Barrero, Susana, Velasco, Eladio A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2019
Soggetti:
Genetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6546720/
https://ncbi.nlm.nih.gov/pubmed/31191615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00503
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