Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23583
Abstract: Many BRCA1 and BRCA2 (BRCA1/2) genetic variants have been studied at mRNA level and linked to hereditary breast and ovarian cancer due to splicing alteration. In silico tools are reliable when assessing variants located in… read more here.
Keywords: located regions; brca2 7976; spliceogenic variants; variants located ... See more keywords
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18
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DOI: 10.1371/journal.pgen.1006691
Abstract: Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasing… read more here.
Keywords: brca2 exons; genetics; spliceogenic variants; 7806 7806 ... See more keywords
Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15
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DOI: 10.3389/fgene.2019.00503
Abstract: A relevant fraction of BRCA2 variants is associated with splicing alterations and with an increased risk of hereditary breast and ovarian cancer (HBOC). In this work, we have carried out a thorough study of variants… read more here.
Keywords: minigene splicing; brca2 exons; genetics; spliceogenic variants ... See more keywords