BMC Seminar Thursday, 5 April at 12:00 in room 343 Læknagarður

Speaker: Arsalan Amirfallah, PhD student at Dr Inga Reynisdóttir’s lab, Landspitali University Hospital, Department of Pathology, Cell Biology Unit

Title: Potential Clinical Significance of an Authophagy Gene in Breast Tumor Development

Abstract: Breast cancer is the most common cancer in women worldwide. It’s highly heterogeneous disease. Many kinds of rearrangements in the genome can lead to defects/dysregulation of genes that support tumor formation. One of these rearrangements is “Fusion Genes “which many of them have been shown to have role in carcinogenesis. The main objective of this study was to find Novel Breast Cancer Genes with using Fusion Genes as a “tool”, for this purpose we compared Breast cancer cell lines fusion genes with breast tumors fusion genes and found some common fusion genes between tumors and cell lines after confirming all of them through RT-PCR and Sanger sequencing and applying some filtering criteria the remained individual gene partners analyzed by correlating the quantity of DNA and mRNA available in a Nordic breast cancer databank (BASE2) and TCGA. The gene with the best correlation was chosen and confirmed by measuring its DNA and mRNA with qPCR in 2 Icelandic breast tumor cohorts and the quantities correlated with clinical and pathological data. The top ranking gene has a role in autophagy and data form first Icelandic cohort showed a positive significant correlation between the gene´s mRNA and DNA levels in ERBB2 subtype (r = 0.61, p < 0.01). Furthermore, its mRNA expression was higher in HER2 positive tumors (p=0.001) and metastasis (p= 0.02). Patients with high levels of DNA and mRNA had shorter overall survival (p= 0.01, p= 0.02) and disease free survival (p= 0.004, p= 0.01). Second Icelandic cohort and TCGA breast cancer cohort were supportive of first cohort’s data. The data suggest that analyzing genes involved in fusions may be a successful mean to identify genes with a role in breast cancer. Functional cell based assays will be needed to shed light on the potential role of this found autophagy gene in breast tumors progression.