Session: MON 37-82-Pheochromocytoma & Paraganglioma
Poster Board MON-43
Methods: Whole exome sequencing was performed on blinded samples from 7 unrelated individuals with PCC/PGL with mutations previously identified by Sanger sequencing, using the Illumina/TruSeq Exome capture platform. Data was filtered looking for protein coding variants in a gene panel (RET, NF1, VHL, SDHD, SDHB, SDHC, SDHA, SDHAF2, KIF1B, TMEM127, EGLN1 and MAX) and all samples were analysed blindly.
Results: Six out of seven mutations were detected using the Illumina/TruSeq exome capture. The remaining sample in which a mutation was not detected had a mutation in SDHC. The Illumina/TruSeq exome capture platform has no targeted capture for exons 2, 4, 5 and 6. In contrast, Roche/NimbleGen SeqCap EZ platform captures all exons of SDHC. The sample has now been re-run using this capture technology. In comparing the targeted capture regions from the respective companies using R script, Roche/NimbleGen SeqCapEZ captures a greater percentage of the exons in the panel of causative genes compared with the Illumina/TruSeq.
The costs of exome sequencing is approximately $AU1,500 per sample to sequence all known PCC/PGL genes (currently 13) compared to $AU4,100 to sequence only the four most common genes. The time from receipt of blinded samples to analysed results was less than five weeks.
Conclusions: Whole exome sequencing is a sensitive, rapid, cost-effective method of screening candidate genes for PCC and PGL. However, platform selection is critical to maximize sensitivity.
Nothing to Disclose: AM, MM, PJL, BG, DB, WJI, MAB, RJC, ELD
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