Molecular analysis of atypical GC donors of the breast cancer susceptibility genes ATM, BRIP1 and PALB2

This dataset contains fragment analysis and sequencing files of a comprehensive study of GC splice sites of the breast/ovarian cancer susceptibility genes ATM, BRIP1 and PALB2. The non-canonical GC-5’ splice-sites (5’ss) are the most common exception (~1%) to the classical GT/AG splicing rule. They constitute weak 5’ss and can be regulated by splicing factors, so they are especially sensitive to genetic variations inducing misrecognition of their respective exons. We aimed at investigating GC-5’ss of the breast/ovarian cancer susceptibility genes ATM (exon 50), BRIP1 (exon 1) and PALB2 (exon 12) and their dysregulation induced by DNA variants. For this purpose, we have used three splicing reporter minigenes: mgATM_49-52, mgBRIP1_1-2 and mgPALB2_5-12. We identified three regions of ATM exon 50 and PALB2 exon 12 enriched in splicing regulatory elements. We selected and assayed 23 variants located at these positive intervals, 12 of which impaired recognition of their respective exons.