Hereditary Breast and Ovarian Cancer Syndrome; Molecular Epidemiology
My research interests cover the following aspects of hereditary breast and ovarian cancers:
- Epidemiology and prevention
- Cancer risk prediction models
- Quality of life and supportive cancer needs
- Healthcare delivery services for the high-risk cancer population
Techniques, methods & infrastructure
My group provides genetic testing to patients with or without cancers that may be suspected of having a BRCA or related genes alteration. With patient consent, data and samples are collected for national and international clinical trials to better understand the risk factors and functions of BRCA and related genes and their impact on therapy.
Most work is conducted using established lab techniques, advanced epidemiological designs and statistical analyses, and in collaboration with the following international consortiums:
- International BRCA1/2 Carrier Cohort Study (IBCCS)
- Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
- Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
- Identification and molecular analyses of brain metastasis in breast cancer patients (BRCAbrain) (2022)
Source of Funding: Medical University of Vienna, CCC Initiative Krebsforschung Research Grant
- Precision medicine for breast cancer: multi-omics towards predicting complete remission and avoiding surgery, PREDICTOME (2021)
Source of Funding: WWTF (Vienna Science and Technology Fund), Life Sciences Call 2020 - Precision Medicine
- Austrian BRCA‐associated metastatic breast cancer registry (2019)
Source of Funding: Pfizer, Research Grant
- BRCA-P - Prospectively randomized place-controlled phase 3 study to determine the effect of denosumab on breast cancer prevention in BRCA1 mutation carriers (2019)
Source of Funding: U.S. Department of Defense, Breast Cancer Research Program Breakthrough Award - Funding Level 4
Coordinator of the collaborative project
- Reichl et al. Cancer Spectrum, Family History of Cancer and Overall Survival in Men with Germline BRCA1 or BRCA2 Mutations. Journal of Personalized Medicine. 2021; 11(9):917. Available at: https://doi.org/10.3390/jpm11090917.
- Silvestri et al. Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) [published correction appears in JAMA Oncol. 2020 Nov 1;6(11):1815]. JAMA Oncol. 2020;6(8):1218-1230. Available at: https://doi.org/10.1001/jamaoncol.2020.2134.
- Kuchenbaecker et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402–2416. Available at: http://dx.doi.org/10.1001/jama.2017.7112.
- Buchanan et al. Tumor Mismatch Repair Immunohistochemistry and DNA MLH1 Methylation Testing of Patients With Endometrial Cancer Diagnosed at Age Younger Than 60 Years Optimizes Triage for Population-Level Germline Mismatch Repair Gene Mutation Testing. J Clin Oncol. 2014;32(2):90-100. Available at: http://dx.doi.org/10.1200/JCO.2013.51.2129.
- Tan et al. Improving identification of lynch syndrome patients: A comparison of research data with clinical records. International Journal of Cancer, 132(12), pp.2876–2883. Available at: http://dx.doi.org/10.1002/ijc.27978.