Figure 3

A detailed characterization of the deletion of exons 11–13 in the BRCA1 gene identified in patient P1. A) Long-range PCR results showing an approximately 11 kb-sized deletion in the BRCA1 gene; B) DNA sequence analysis showing that the deletion in the BRCA1 gene in this case corresponds to NM_007294.3: c.3416_c.4357 + 1863delins187 [NG_005905.2: g.33369_44944delins187]. The 5′ and 3′ breakpoints in the gene are located within exon 11 and intron 13, respectively, with a partial insertion of intron 12 sequence at the breakpoint (c.4185 + 2603_2789). Short common sequences (microhomology) are shown shaded in light gray between the rearranged sequences at each breakpoint. MX and MIV: molecular weight ladders; P1: patient 1; C: healthy control.