Targeted Next Generation Sequencing in the Screening for Familial Neuroendocrine Tumor Syndromes: A Tool for Personalized Medicine

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Introduction: Multiple syndromes are described as conferring susceptibility to NETs; MEN1 & 2, NF1, familial PGL 1-5, TSC, VHL and germline mutations in the HIF2A, MAX, or TMEM127. Genetic testing covering these diagnoses may be extensively resource-demanding using traditional techniques due to the large extent of these loci.

Aim(s):

Materials and methods: DNA from 150 patients with NET, including 35 with familial NET syndrome, were analysed. Samples were subjected to targeted enrichment (two kits, 30 genes) and sequenced on a Illumina MiSEQ instrument. Results were processed with Illumina MiSEQ Reporter and CLC Genomics software and validated by Sanger sequencing.

Conference: 11th Annual ENETSConcerence (2014)

Presenting Author:

Authors: Crona J, Stålberg P, Granberg D, Welin S, Hellman P,

Keywords: neuroendocrine tumor, genetics ,