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#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,