Fig. 3.

Laboratory data indicating the presence of a partial deletion in BRCA2. a Next-generation sequencing (NGS) data showing a partial deletion in exon 11 of BRCA2. Exons at normal dosage align to 2 alleles on the y-axis, whereas in deletions they align to one allele. b Microarray-CGH data showing a partial deletion. Microarray probe clusters at normal dosage center at 0 on the y-axis, whereas deletions center between approximately − 0.75 and − 1.0. c Schematic and results of targeted PCR visualized using gel electrophoresis. The sample contains a mutant PCR product of smaller size. Deletion breakpoints were determined by Sanger sequencing (data not shown)