Splicing Assays of CHEK2 variants and microdeletions located at exons 8 and 10: identification of splicing regulatory elements

This dataset corresponds to a comprehensive study of the alternatively spliced exons 8 and 10 of the breast cancer susceptibility gene CHEK2. For this purpose, we have used a minigene with exons 6 to 10, where we introduced 12 internal microdeletions of exons 8 and 10 and 87 variants by site-directed mutagenesis that were assayed in MCF-7 cells. We identified three minimal (10,11,15-nt) regions essential for exon recognition. Thirty-eight variants impaired splicing, and 3 of which were classified as pathogenic/likely pathogenic variants according to ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular Pathology)-based guidelines, so carrier patients and families may benefit from tailored prevention protocols and personalized therapies.