Figure 3.

Identification of sequence variants in cancer susceptibility genes by whole exome sequencing. Filtering strategy for finding germ-line oncogene variants in DNA isolated from blood cells of the proband identified three candidate genes, including GALNT12, RET, and EPHB2 (upper panel). Sanger sequencing confirmed the heterozygous state of these variants in blood and in lesional skin (lower panel). In addition, whole exome sequencing showed the presence of a homozygous PTCH1 variant in the tumor sample while the blood cells and normal skin were negative for this variant.