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Next Generation Sequencing is a Cost Effective and Time Saving Method in Clinical Genetic Screening of Patients with Pheochromocytomas

#366

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.

Aim(s):

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.

Conference:

Presenting Author:

Authors: Crona* J, Delgado Verdugo* A, Hellman P, Björklund P,

Keywords: next generation sequencing, pheochromocytoma,

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