Diagnostik- und Forschungszentrum

Research focus: Constitutional tumor predisposition

PI: Jochen Bernd Geigl

Focus: In our genetic counselling center many people seek advice with the question of whether they might have an increased susceptibility to tumor diseases. If, after a detailed genetic consultation, a hereditary tumor syndrome is suspected, appropriate molecular genetic diagnostics can be initiated. The three most important clinical signs hinting to the presence of a potential heritable tumor predisposition syndrome include familial clustering of cancers, several tumors in one and the same person, or the occurrence of cancer at a young age. Pathogenic mutations can have important consequences for patients (treatment planning, follow-up) and their families (early detection programs).

Network: Genetic counselling is offered at the Institute of Human Genetics and at the University Hospital Graz (Department of Gynecology and Obstetrics, Department of Oncology, in both facilities together with psycho-oncology experts ; Department of Gastroenterology and Hepatology, Department of Pediatrics and Adolescent Medicine), as well as at the University Hospital Hochsteiermark Leoben and the Hospital Oberpullendorf. There is a close cooperation with the Institute of Pathology, Medical University of Graz, the Institute of Pathology, LKH Graz II, West, and international laboratories, scientists and physicians.

Projects

Comprehensive genetic analysis of patients with cancer at a younger age; "Cancer of the young"

  • This project focusses on a special group of patients who were diagnosed with a malignant disease at a younger age.  In cases where analysis of high-penetrance cancer-predisposition genes does not reveal disease causing candidate genes, analyses in both germline and tumor material will be extended to whole-exome sequencing or whole-genome sequencing, i.e. sequencing of all protein-coding regions or sequencing of the entire genome, respectively. In addition, RNA-, epigenetic and functional analyses will be performed.
  • Duration: since 2020
  • Funded by: Med Uni Graz
  • Project partners: Institute of Pathology, Medical University of Graz, Institute of Pathology, LKH Graz II, West, Department of Oncology, University Hospital Graz, University Hospital of Gynecology and Obstetrics, University Hospital Graz, University Hospital of Pediatrics and Adolescent Medicine, University Hospital Graz

ctDNA in prostate cancer patients: Analyses of androgen receptors axis and DNA damage repair genes from plasma DNA

  • The overall aim of this project is the characterization of castration-resistant prostate cancer (CRPC). Our laboratory harnesses the growing clinical application of the non-invasive “liquid biopsy”, which enables the detection and diverse analyses of circulating DNA fragments in plasma from patients with solid tumors, including those with CRPC. We hypothesize that high coverage sequencing from plasma DNA coupled with our bioinformatics pipelines, will contribute to the novel identification of genes that drive prostate cancer progression.
  • Duration: since 2018
  • Funded by: FWF (KLI B710-B26)
  • Project partners: Institute of Pathology, Medical University of Graz, Department of Oncology, University Hospital Graz, CeMM: Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, CANCER-ID Consortium, Lawrence J. Ellison Institute for Transformative Medicine of USC, USC Westside Cancer Center, University of Southern California, USA.

Diagnostic and Research Institute of Human Genetics

Assoz.-Prof. Priv.-Doz. Dr.
Jochen Bernd Geigl 
T: +43 316 385 73825