Abstract Library

#3512 Genetic, epigenetic and/or transcriptional profiling of 14q genes, MAX and MEG3 in pituitary neuroendocrine tumors

Introduction: Recent studies have identified a growing series of susceptibility genes for pituitary neuroendocrine tumors (PitNETs) and pheochromocytomas/paragangliomas (PPGL). Some of these genes (e.g., SDH genes) have be specifically associated with the development of these pathologies.

Conference:

Presenting Author: Ibáñez Costa A

Authors: Ibáñez-Costa A, Letón R, Rivero-Cortés E, Álvarez-Escolá C, Rodriguez Poyo-Guerrero P,

Keywords: pituitary tumor, epigenetics, MAX, genomics,

#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,