Fig. 2.

Exon skipping of exon 36 of the ATM gene due to germline mutation c.5496 + 2_5496 + 5delTAAG. a Diagram of the minigene pSpliceExpress vectors, WT which is constituted by exon 36 of ATM and exons 2 and 3 from Rat insulin (Rat Ins Ex2 and Rat Ins Ex3), and Mut which represents the presence of the germline mutation of interest. b RT-PCR, performed after transfection of the WT and Mut plasmids, in HEK-293, MCF-7, MDA-MB-231, and BT-474 cell lines, showed exon skipping in all cell lines, negative control was not transfected cells (NT). c Sanger sequencing was performed to confirm the effect in splicing observed in RT-PCR