Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma

Figure 2

(a) Loss of heterozygosity of germline MAX mutation detected on N63 tumor. Chromatograms showing homozygous status of c.397-2A>G mutation in the tumor of N63 (upper panel), while in the germline it is heterozygous (lower panel). (b) MAX mRNA relative expression of MAX mutant case (N63) in comparison to the other PCC cases. value was estimated with unpaired -test (). (c) Validation of SNV detected on SAMD9L gene in 2 PCC samples. Germline c.2307delC and c.1216C>T heterozygous mutations detected in both tumor and peripheral blood of N47 and N50, respectively. (d) SAMD9L mRNA relative expression of the 2 SAMD9L mutant cases (N47 and N50) in comparison to the other PCC cases. value was estimated with unpaired -test ().

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