Principal Investigator: Mads Thomassen

Faculty of Health Science – Department of Clinical Research – Human Genetics – SDU

Breast cancer is the most common cancer among women. Up to 10% of all cases are inherited. Since breast cancer is associated with high mortality patients with a strong family history of breast/ovarian cancer are referred to screening of the high-risk genes BRCA1 and BRCA2. In families where a mutation is identified, half of the daughters of a mutation carrier will not carry it and they can be spared prophylactic mastectomy and oophorectomy. Patients with BRCA1/2 mutations have been shown to respond better to certain types of chemotherapy and a new targeted treatment, PARP inhibitors. A major problem in clinical managing is that mutations in BRCA1/2 are only identified in app. 10% of referred families hampering counseling and treatment.

We will seek to improve treatment and counseling of hereditary breast cancer by identifying molecular subtypes and the missing causal genetic factors for non-BRCA1/2 familial breast cancers.