DNA Mismatch Repair; Epidemiology; Genes, BRCA1; Genes, BRCA2; Hereditary Breast and Ovarian Cancer Syndrome; Lynch Syndrome II
- Predictive Oncology Group
My research interests cover all aspects of the epidemiology of hereditary breast and ovarian cancer as well as endometrial cancer, ranging from etiology and prevention, to diagnosis, patterns of care, quality of life and survival.
My current focus includes male breast cancer, treatment responses and health outcomes of BRCA-associated metastatic breast cancer, and patient-reported outcomes in hereditary cancer patients. I am also interested in the etiology and prevention of prostate cancer, particularly BRCA-associated prostate cancer.
Techniques, methods & infrastructure
To translate findings from research studies to cancer prevention strategies, I have conducted several observational studies within the Prospect-EPIC Dutch population-based cohort study and the Australian National Endometrial Case-Control study. In the former, I validated a cancer risk prediction model, and, in the latter, I designed questionnaires and developed a cost-effective predictive model using advanced epidemiological and statistical analyses to identify endometrial cancer patients with suspected mismatch repair mutations for germline testing. The findings led to an Australian-wide implementation of systematic tumor MMR gene testing for endometrial cancer patients.
I work closely with the Pathology, Radiology and Urology department in the Medical University of Vienna and collaborates intensely with international consortium of investigators such as CIMBA (Consortium of Investigators of Modifiers of BRCA1/2) in the University of Cambridge and ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) in QIMR Berghofer Medical Research Institute in Australia. This has led to several projects funded by the NIH and the US Department of Defense.
- 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
- Qian, F. et al., 2019. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. British Journal of Cancer, 121(2), pp.180–192. Available at: http://dx.doi.org/10.1038/s41416-019-0492-8.
- Kuchenbaecker, K.B. et al., 2017. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA, 317(23), p.2402. Available at: http://dx.doi.org/10.1001/jama.2017.7112.
- Johnatty, S.E. et al., 2017. Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: Implications for genetic counselling. Gynecologic Oncology, 147(2), pp.381–387. Available at: http://dx.doi.org/10.1016/j.ygyno.2017.08.011.
- Buchanan, D.D. et al., 2014. 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. Journal of Clinical Oncology, 32(2), pp.90–100. Available at: http://dx.doi.org/10.1200/JCO.2013.51.2129.
- Tan, Y.Y. et al., 2013. 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.