Figure 1.
(A) In the left panel, succinate dehydrogenase subunit B (SDHB) sequences are displayed from healthy reference (upper), PCC19, and corresponding germline DNA. In the right panel, the succinate dehydrogenase subunit D (SDHD) sequence is shown from healthy reference, PCC6, and corresponding germline DNA. Note that PCC19 tumor and germline DNA both show the SDHB c.113G>A; p.Arg38Gln variant. PCC6 shows SDHD c.365A>G; p.Lys38Arg in a homozygous fashion in the tumor DNA and heterozygous in the germline DNA, indicating loss of the wild type allele in the tumor. (B) Shows loss of heterozygosity of the larger allele in PCC6, confirming the Sanger sequencing results. (C) The SNP array result of PCC 20 displays in the upper panel logR ratios, indicating loss of chromosomes 5, 17, 23, 26, 30, and 34. This is also seen in the lower panel by the B-allele frequencies.
