Epidemiology; Genes, BRCA1; Genes, BRCA2; Hereditary Breast and Ovarian Cancer Syndrome; Lynch Syndrome II; Quality of Life; Survival
- Predictive Oncology Group
My research interests cover the following aspects of hereditary breast and ovarian cancer:
- Cancer epidemiology (ranging from etiology and prevention to diagnosis and outcomes),
- Cancer risk prediction models,
- Quality of life and supportive cancer needs, and
- Healthcare delivery services for the high-risk cancer population.
Techniques, methods & infrastructure
Much of this work is conducted within the following population or case-control studies:
- Austrian Hereditary Cancer National Study (ATHENA),
- 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).
- 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.