Alberto
Acedo Bécares
Publicaciones en las que colabora con Alberto Acedo Bécares (11)
2019
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Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays
Journal of Pathology, Vol. 248, Núm. 4, pp. 409-420
2018
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Identification of eight spliceogenic variants in BRCA2 Exon 16 by minigene assays
Frontiers in Genetics, Vol. 9, Núm. MAY
2017
2015
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Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons
Human Mutation, Vol. 36, Núm. 2, pp. 210-221
2013
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The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins
Carcinogenesis, Vol. 34, Núm. 11, pp. 2505-2511
2012
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Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes
Breast Cancer Research, Vol. 14, Núm. 3
2011
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Characterization of new founder alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype
Cancer Prevention Research, Vol. 4, Núm. 10, pp. 1546-1555
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Frequency of rearrangements in Lynch syndrome cases associated with MSH2: Characterization of a new deletion involving both EPCAM and the 5′ part of MSH2
Cancer Prevention Research, Vol. 4, Núm. 10, pp. 1556-1562
2010
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A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients
Clinical Cancer Research, Vol. 16, Núm. 6, pp. 1957-1967
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BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin
Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69
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Two founder BRCA2 mutations predispose to breast cancer in young women
Breast Cancer Research and Treatment, Vol. 122, Núm. 2, pp. 567-571