Genetics and Epigenetics of Cancer

Individual susceptibility to cancer varies, and known cancer risk factors include environmental exposure to carcinogens as well as host genetic variations. International genome-wide association studies have identified genetic loci strongly implicated in the development of different tumors, however, the functional mechanisms for many of these associations have yet to be identified. Epigenetic mechanisms regulating gene expression are implicated. Interindividual differences in the epigenome may be related to genetic variations and/or environmental exposures, and may be inherited or acquired. 


Our interdisciplinary workgroup is interested in identifying and characterizing genetic and epigenetic factors that modify cancer risk (gene-environment interaction) or treatment outcome (pharmaco(epi)genetics). We employ melting curve analysis and real-time PCR analysis for single nucleotide polymorphism (SNP) and copy number (CNV) genotyping, as well as high throughput quantitative methylation- and SNP-analyses. Genome-wide methylation analyses in target- and surrogate tissues as well as miRNA-, expression- and functional studies are also performed. By integrating epidemiological- and/or clinical data with epi-genomewide and functional analyses we aim to identify biomarkers for cancer risk, diagnosis or treatment.


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Selected publications


  • Scherf DB, Sarkisyan N, Jacobsson H, Claus R, Bermejo JL, Peil B, et al. Epigenetic screen identifies genotype-specific promoter DNA methylation and oncogenic potential of CHRNB4. Oncogene 2013;32:3329-38. IF: 8.5

  • Campa D, Muller P, Edler L, Knoefel L, Barale R, Heussel CP, et al. A comprehensive study of polymorphisms in ABCB1, ABCC2 and ABCG2 and lung cancer chemotherapy response and prognosis. International journal of cancer 2012;131:2920-8. IF: 5.0

  • Freedman ML, Monteiro AN, Gayther SA, Coetzee GA, Risch A, Plass C, et al. Principles for the post-GWAS functional characterization of cancer risk loci. Nature genetics 2011;43:513-8. IF: 29.6

  • Knoefel LF, Werle-Schneider G, Dally H, Muller PJ, Edler L, Bartsch H, et al. Polymorphisms in the apoptotic pathway gene BCL-2 and survival in small cell lung cancer. Journal of thoracic oncology 2011;6:183-9. IF: 5.8

Angela Risch, PhD

Professor of Molecular Genetics

Department of Molecular Biology

University of Salzburg

Epigenetics of Cancer

Epigenetics of Cancer

Well characterized clinical or epidemiological samples are screened for epigenetic variations. Technical validation employing different methods on the same samples, as well replication studies in independent samples sets are performed to identify robust associations. Functional studies are performed to identify novel mechanisms.

Cancer Cluster Salzburg at SCRI

3rd Medical Department

Paracelsus Medical University Clinics Salzburg

Müllner Hauptstrasse 48, 5020 Salzburg, Austria


Cancer Cluster Salzburg at PLUS

Department of Biosciences

University of Salzburg

Hellbrunner Strasse 34, 5020 Salzburg, Austria