Splicing Functional Assays of splice-site variants of the breast cancer gene PALB2 identified in the BRIDGES project

This dataset corresponds to a systematic splicing analysis of PALB2 splice-site variants that had been detected in over 113,000 women who took part of the large scale sequencing project BRIDGES. Eighty-two variants of the intron-exon boundaries were bioinformatically analyzed, and 42 of them were selected for subsequent splicing assays in three minigene constructs. Thirty-five variants impaired splicing, 23 of which were classified as pathogenic/likely pathogenic variants according to ACMG/AMP-based guidelines, so that carrier patients and families may benefit from tailored prevention protocols and personalized therapies.