101. Development of an analytical pipeline for detecting fusions of clinical relevance in liver cancer

Gene fusions play a crucial role in multiple cancers including cholangiocarcinoma (CCA) and hepatocellular carcinoma (HCC). To make unbiased gene-fusion discoveries for CCA and HCC, we studied tumor RNA-seq data from 51 CCA and 48 HCC patients treated at Mayo Clinic, and an additional 424 HCC and CCA cases from The Cancer Genome Atlas (TCGA). We developed an integrative fusion pipeline to annotate and identify high confidence, candidate gene fusions initially called by STAR-Fusion-v1.4.0. The pipeline considers exon boundaries, in-frame candidates, homologous genes, and the proximity of gene partners.

Source: Cancer Genetics and Cytogenetics - November 1, 2022 Category: Genetics & Stem Cells Authors: Chantal McCabe, Numrah Fadra, Daniel O'Brien, Asha Nair, Rory Smoot, Lewis Roberts, Mike Torbenson, Chen Wang Source Type: research