Fusion genes are potent oncogenes generated by tumor-specific chromosome translocations. Recent studies indicate that fusion genes occur in most malignancies and account for at least 20% of human cancer morbidity. An increasing number of these fusions are being recognized as important diagnostic and prognostic biomarkers and as targets for new therapies.
We focus on the biology of human translocation-associated carcinomas and sarcomas. These tumor types are particularly interesting because in contrast to other solid tumors, their fusion genes are directly involved in tumor pathogenesis. Our laboratory has extensive experience in this field and has cloned and characterized a series of fusion oncogenes, involving for example the EWSR1, PLAG1, HMGA2, CRTC, and MYB genes, in sarcomas and in tumors of exocrine glands. Some of the recurring themes of our laboratory include cloning and functional characterization of new gene fusions, development of translocation-positive cell lines, new diagnostic biomarker assays, and identification of genomic rearrangements/mutations using state of the art genomic approaches. These studies provide a base for development of new molecularly based classifications of human tumors.
Our current focus centers on studies of the molecular pathogenesis and clinical significance of gene fusions, in particular the MYB-NFIB fusion, in carcinomas of the breast, skin, and head and neck. Using a combination of in vitro and in vivo tumor models (incl xenografts) we aim to identify and characterize cancer stem cells, the transcriptional targets of the fusions, and ultimately develop new targeted therapies for these malignancies.
We use state-of-the-art genomics approaches and molecular and cellular biology techniques to identify and functionally characterize genetic changes in human carcinomas and sarcomas to identify new biomarkers and treatment strategies.
Göran Stenman, DMD, PhD, Professor
Mattias Andersson, PhD, Postdoc
Marta Persson, PhD, Postdoc
Maryam Kakay Afshari MD, PhD student
André Fehr, PhD, Postdoc
Fredrik Persson, MD, PhD, Postdoc
Sarah Linea von Holstein MD, PhD student
Ywonne Andrén, MSc, Molecular biologist