Article
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.
The Journal of molecular diagnostics : JMD - 1 Dec 2020
Rofes Paula, Menéndez Mireia, González Sara, Tornero Eva, Gómez Carolina, Vargas-Parra Gardenia, Montes Eva, Salinas Mónica, Solanes Ares, Brunet Joan, Teulé Alex, Capellá Gabriel, Feliubadaló Lídia, Del Valle Jesús, Pineda Marta, Lázaro Conxi
Abstract excerpt
RNA analyses are a potent tool to identify spliceogenic effects of DNA variants, although they are time-consuming and cannot always be performed. We present splicing assays of 20 variants that represent a variety of mutation types in 10 hereditary cancer genes and attempt to incorporate these results into American College of Medical Genetics and Genomics (ACMG) classification guidelines. Sixteen single-nucleotide...
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