Endocrine Abstracts

Background: Genomic structural variants (SVs) encompass a large portion of mutations driving cancer progression, however, there is a paucity of data regarding such drivers in metastatic neuroendocrine tumor (mNET). Existing studies have focused on short-read sequencing of primary NET samples, which can detect single nucleotide variants, but are unable to identify larger SVs. Such studies have demonstrated a low rate of genetic mutations. Optical genome mapping (OGM) represents...