Introduction: Pheochromocytomas are rare tumours arising from adrenal medulla. Recent findings show that about 30-40% of pheochromocytomas are caused by germline mutations in one of the ten hereto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1, TMEM127 and MAD. This list of genes is constantly growing. These ten genes together consist of 128 exons and a genetic screening test is both extensive time-consuming and expensive. We introduce utilizing Next generation sequencing as a fast and cost effective method.
Materials and methods: DNA was extracted from pheochromocytoma lesions and were subjected to whole genome sequencing utilizing Illumina® Hi seq platform, performed at university core facility. Reads from pair-end fragments were mapped (GRCh37) and variation calling was performed using a commercially available software (CLC Bio, Denmark). Identified mutations were verified by automated Sanger sequencing.
Presenting Author: Mr. Joakim Crona
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