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Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants.
Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Infante M, Durán M, Marcos G, Lastra E, Gómez-Barrero S, Velasco EA. Fraile-Bethencourt E, et al. Breast Cancer Res Treat. 2018 Aug;171(1):53-63. doi: 10.1007/s10549-018-4826-7. Epub 2018 May 15. Breast Cancer Res Treat. 2018. PMID: 29766361
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Montalban G, Fraile-Bethencourt E, López-Perolio I, Pérez-Segura P, Infante M, Durán M, Alonso-Cerezo MC, López-Fernández A, Diez O, de la Hoya M, Velasco EA, Gutiérrez-Enríquez S. Montalban G, et al. Among authors: fraile bethencourt e. Hum Mutat. 2018 Sep;39(9):1155-1160. doi: 10.1002/humu.23583. Epub 2018 Jul 13. Hum Mutat. 2018. PMID: 29969168 Free article.
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.
Sanoguera-Miralles L, Valenzuela-Palomo A, Bueno-Martínez E, Llovet P, Díez-Gómez B, Caloca MJ, Pérez-Segura P, Fraile-Bethencourt E, Colmena M, Carvalho S, Allen J, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco EA. Sanoguera-Miralles L, et al. Among authors: fraile bethencourt e. Cancers (Basel). 2020 Dec 15;12(12):3771. doi: 10.3390/cancers12123771. Cancers (Basel). 2020. PMID: 33333735 Free PMC article.
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Valenzuela-Palomo A, Bueno-Martínez E, Sanoguera-Miralles L, Lorca V, Fraile-Bethencourt E, Esteban-Sánchez A, Gómez-Barrero S, Carvalho S, Allen J, García-Álvarez A, Pérez-Segura P, Dorling L, Easton DF, Devilee P, Vreeswijk MP, de la Hoya M, Velasco EA. Valenzuela-Palomo A, et al. Among authors: fraile bethencourt e. J Pathol. 2022 Mar;256(3):321-334. doi: 10.1002/path.5839. Epub 2021 Dec 28. J Pathol. 2022. PMID: 34846068 Free PMC article.
Nucleic Acid Sensing in the Tumor Vasculature.
Baris AM, Fraile-Bethencourt E, Anand S. Baris AM, et al. Among authors: fraile bethencourt e. Cancers (Basel). 2021 Sep 3;13(17):4452. doi: 10.3390/cancers13174452. Cancers (Basel). 2021. PMID: 34503262 Free PMC article. Review.
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