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M. T. Santamarina

University of Santiago de Compostela

54

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Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11

2018 Human Mutation
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BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

2018 Human Mutation
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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

2016 Journal of Medical Genetics
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Combined genetic and splicing analysis of BRCA1 c. 594-2A > C; 641A > G highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

2016 Human Molecular Genetics
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About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

2014 International Journal of Cancer
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the BRCA1 locus: a report from the ENIGMA consortium

2014
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RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

2014 Breast Cancer Research and Treatment
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Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

2014 Human Molecular Genetics
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Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines

2013 Human Mutation
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Annular Elastolytic Giant Cell Granuloma Associated to Late-Onset X-Linked Dominant Protoporphyria

2013 Dermatology
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