The Journal of Molecular Diagnostics - Articles in Press

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Improving genetic testing in hereditary cancer by RNA analysis: tools to prioritize splicing studies and challenges in applying American College of Medical Genetics and Genomics guidelines

RNA analyses are a potent tool to identify spliceogenic effects of DNA variants, although they are time-consuming and cannot always be performed. Here, we present splicing assays of 20 variants representing a variety of mutation types in ten hereditary cancer genes, together with an attempt to incorporate these results into American College of Medical Genetics and Genomics (ACMG) classification guidelines. We selected 16 single-nucleotide variants, 3 exon duplications and one single-exon deletion prioritized by in silico algorithms.

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https://www.jmdjournal.org/article/S1525-1578(20)30484-0/fulltext?rss=yes