#4151
Identifying potential tumor drivers through integration of gene expression and DNA copy number in SI-NET
Introduction:
The genetics of small intestine neuroendocrine tumors (SI-NETs) remains poorly understood. To date, only CDKN1B has been found recurrently mutated, in approximately 9% of cases. On the contrary, DNA copy number alterations are found in a majority of cases. The most frequent aberration is heterozygous loss of chromosome 18. In addition, loss of chromosome 11, and gains on chromosomes 4, 5 and 14 are common. The cellular mechanisms through which these alterations drive tumor development are unknown.
Conference:
Presenting Author:
Backman S
Authors:
Backman S,
Barazeghi E,
Norlén O,
Hellman P,
Stålberg P,
Keywords:
SI-NET,
RNA-Seq,
Gene dosage,
Haplo-insufficiency,
Copy number,
#3662
Nothing but NET? Neuroendocrine tumors in multiple endocrine neoplasia 4
Introduction:
Multiple endocrine neoplasia 4 (MEN4) is a rare multi-neoplasia syndrome caused by a germline pathogenic variant in CDKN1B gene, encoding p27, a cell-cycle regulator. MEN4 manifestations include primary hyperparathyroidism (PHPT), pituitary adenomas (PitAd), and neuroendocrine neoplasms (NEN). The characteristics of MEN4-NENs have not been thoroughly characterized thus far.
Conference:
Presenting Author:
Authors:
Halperin R,
Arnon L,
Nasirov S,
Friedensohn L,
Gershinsky M,
Keywords:
MEN4,
CDKN1B,
lifetime risk,
genotype-phenotype,
multiple endocrine neoplasia,
#1478
The Role of p27 in Pheochromocytoma Development
Introduction:
The Cdkn1b gene, encoding p27, is a tumor susceptibility gene for multiple endocrine neoplasia syndromes in rats (MENX) and humans (MEN4) with development of pheochromocytoma (PCC), respectively. Recently, it was reported that p27 indirectly regulates gene transcription by associating with transcription factors (TF) and inhibiting gene transcription at specific promoters.
Conference:
13th Annual ENETSConcerence (2016)
Presenting Author:
Richter A
Authors:
Richter A,
Lalli E,
Sass S,
Pellegata N,
Keywords:
pheochromocytoma,
p27,
ChIP-Seq,
