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Genetics of Familial Cancer

Some 5 -10% of cancer patients are affected by a familiar form of the disease. These are often caused by mutations in cancer susceptibility genes, either inherited or occurring de novo. At the Institute we closely collaborate with several oncology clinics on campus, the Pathology Institute as well as several regional clinics and offer genetic counselling and testing to individuals at risk. In certain cases without a known cause we apply our expertise in high-throughput mutation detection to identify novel disease associated genes and correlate genetic variants identified with clinical manifestation.

We work in close collaboration with the Department of Obstetrics and Gynaecology in familiar breast- and ovarian cancer. We have a dedicated interdisciplinary clinic for genetic counselling. Several projects deal both with basal and translational research aspects. Among others have we performed systematic mutation screening in high-penetrance susceptibility genes for familial breast- and ovarian cancer in a large study group (Kraus et al. 2017). We have also contributed to the efforts of the group of Profs. Peter Fasching and Matthias Beckmann from the Gynaecology Dept. in identifying breast- and ovarian cancer associated genetic variants. More than hundred publications resulted from this collaboration including Wunderle et al. 2018, Michailidou et al. 2017und Couch et al. 2016.

Paediatric cancers are usually rare disorders and often complicated by additional signs compatible with syndromic manifestation. In close collaboration with the Paediatrics Department we have an interdisciplinary genetic clinic for childhood cancer patients. In families without a disease causing mutation we perform genome sequencing to identify novel candidate genes that are then pursued further with genetic and functional testing.