Abstract Library

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

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.

Conference: 11th Annual ENETSConcerence (2014)

Presenting Author:

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

Keywords: neuroendocrine tumor, genetics ,

#658 Somatic Mutations in H-RAS in Sporadic Pheochromocytoma and Paraganglioma Identified by Exome Sequencing.

Introduction: Up to 60% of pheochromocytoma (PCC) and paraganglioma (PGL) are associated with mutations in established PCC and PGL susceptibility loci. A majority of unexplained cases are characterized by an increased activity of the RAS/RAF/ERK signalling pathway. Mutations in RAS subtypes H, K and N are common in human cancers, however, previous studies have been inconsistent regarding the mutational status of RAS in PCC and PGL.

Conference: 10th Annual ENETSConcerence (2013)

Presenting Author:

Authors: Crona J, Delgado Verdugo A, Stålberg P, Granberg D, Hellman P,

Keywords: H-RAS, pheochromocytoma,

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

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.

Conference:

Presenting Author:

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

Keywords: next generation sequencing, pheochromocytoma,

#271 A Novel Missense Mutation of the TMEM127 Gene that Leads to Pheochromocytoma Phenotype

Introduction: Recently, truncating germline mutations in TMEM127 gene have been identified in 30% of familial cases of adrenal pheochromocytoma (PHEO) and in 3% of apparently sporadic cases.

Conference: 8th Annual ENETSConcerence (2011)

Presenting Author:

Authors: Domingues R, Vilar H, Lopes L, Jácome de Castro J, Martins Bugalho M,

Keywords: pheochromocytoma, familial forms, germline mutations, susceptibility genes, TMEM127,