Farmacogenética, Genética del Cáncer, Polimorfismos Genéticos y Farmacoepidemiología
Instituto de Biología y Genética Molecular
Valladolid, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Biología y Genética Molecular (26)
2024
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Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants
Journal of Pathology, Vol. 262, Núm. 4, pp. 395-409
2022
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A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility
Cancers, Vol. 14, Núm. 19
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Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?
International Journal of Molecular Sciences, Vol. 23, Núm. 19
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Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101
2020
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Editorial: RNA Splicing and Backsplicing: Disease and Therapy
Frontiers in Genetics
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Germline genetic findings which may impact therapeutic decisions in families with a presumed predisposition for hereditary breast and ovarian cancer
Cancers, Vol. 12, Núm. 8, pp. 1-17
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Hereditary leiomyomatosis and renal cell cancer syndrome in spain: Clinical and genetic characterization
Cancers, Vol. 12, Núm. 11, pp. 1-16
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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Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer
Gastroenterology, Vol. 154, Núm. 1, pp. 181-194.e20
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Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study
Human Mutation, Vol. 39, Núm. 9, pp. 1155-1160
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Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants
Breast Cancer Research and Treatment, Vol. 171, Núm. 1, pp. 53-63
2017
2015
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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
JAMA - Journal of the American Medical Association, Vol. 313, Núm. 13, pp. 1347-1361
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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
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Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair
Gastroenterology, Vol. 149, Núm. 3, pp. 563-566
2014
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GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X
Human Mutation, Vol. 35, Núm. 1, pp. 50-52
2013
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Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome
International Journal of Colorectal Disease, Vol. 28, Núm. 9, pp. 1195-1201
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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
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Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles
PLoS ONE, Vol. 8, Núm. 2
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