Article
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.
Human mutation - 1 Apr 2018
Baert Annelot, Machackova Eva, Coene Ilse, Cremin Carol, Turner Kristin, Portigal-Todd Cheryl, Asrat Marie Jill, Nuk Jennifer, Mindlin Allison, Young Sean, MacMillan Andree, Van Maerken Tom, Trbusek Martin, McKinnon Wendy, Wood Marie E, Foulkes William D, Santamariña Marta, de la Hoya Miguel, Foretova Lenka, Poppe Bruce, Vral Anne, Rosseel Toon, De Leeneer Kim, Vega Ana, Claes Kathleen B M
Abstract excerpt
For 21 putative BRCA1 and BRCA2 splice site variants, the concordance between mRNA analysis and predictions by in silico programs was evaluated. Aberrant splicing was confirmed for 12 alterations. In silico prediction tools were helpful to determine for which variants cDNA analysis is warranted, however, predictions for variants in the Cartegni consensus region but outside the canonical sites, were less reliable....
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