The Nevanlinna group has identified and characterized several founder mutations in high- and moderate-penetrance breast cancer susceptibility genes in the Finnish population. Many of these findings have been taken into clinical use in diagnostics and in cancer surveillance in breast cancer families. We have also contributed to identification of several low-penetrance breast or ovarian cancer loci, which alone have limited clinical applicability but if combined into a polygenic risk score, may have potential in patient stratification in the future.
Another main branch of our research on inherited genetic variation covers the study of breast cancer phenotypes, progression-related variants in the genetic and biological subgroups of breast carcinoma, and markers associated with prognosis or treatment response. We have identified genetic polymorphisms, which alone or in combination predict poor outcome or treatment response. These findings may in future contribute to personal treatment selection of breast cancer patients.
The multidisciplinary group consists of basic and clinical researchers specialized in molecular and clinical genetics, cancer biology, pathology, and oncology. The group has wide international scientific collaboration, being a member of the Breast Cancer Association Consortium (BCAC, Dr. Douglas Easton, Cambridge, UK) and the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA, Dr. Georgia Chenevix-Trench, Brisbane, Australia). The group works together with Dr. Jiri Bartek (Danish Cancer Society, Copenhagen, Denmark) on tumour biological and functional studies. Our Finnish collaborators include Dr. Tero Aittokallio (FIMM, University of Helsinki) and Himanshu Chheda, with whom we work on modeling of patient survival with computational analyses as well as Prof. Eija Kalso and Dr. Ralf Bützow (HUCH), with whom we work on ovarian cancer susceptibility. We also collaborate with the FINRISK and FinnGen-studies.