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