#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,
