RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants

SIMPLE SUMMARY: In the BRIDGES project, the breast/ovarian cancer gene RAD51D has been sequenced in >113,000 women. In the present study, we focused on the impact that 11 pre-selected RAD51D variants at the intron/exon boundaries had on the splicing process (intron removal). For this purpose, we...

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Publicat a:Cancers (Basel)
Autors principals: Bueno-Martínez, Elena, Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Lorca, Víctor, Gómez-Sanz, Alicia, Carvalho, Sara, Allen, Jamie, Infante, Mar, Pérez-Segura, Pedro, Lázaro, Conxi, Easton, Douglas F., Devilee, Peter, Vreeswijk, Maaike P. G., de la Hoya, Miguel, Velasco, Eladio A.
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2021
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8201001/
https://ncbi.nlm.nih.gov/pubmed/34200360
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cancers13112845
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