Identifying potential tumor drivers through integration of gene expression and DNA copy number in SI-NET

#4151

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.

Aim(s): To identify tumor driver genes affected by copy number alterations in SI-NETs.

Materials and methods: DNA and RNA was extracted from fresh frozen tumor samples. DNA was subjected to whole genome sequencing followed by copy number analysis. RNA was sequenced and gene expression was quantified. Differential expression analyses were performed based on copy number calls.

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,