Departmental research is focused on breast cancer and aims to use state of art biological research to make a difference in the prevention as well as the diagnosis of this disease. Already characteristic mutations have been identified in Cypriot families in the BRCA1 and BRCA2 predisposition genes and this knowledge is being applied for improving the management of patients and their families. At the same time cutting edge research methodologies are being used to improve our understanding of breast cancer development as well as the functional roles of BRCA1 and BRCA2 proteins.Familial cancer genetics.
 
The main focus of research is on breast cancer genetics and mutations have been characterized in both BRCA1 and BRCA2 genes in Cypriot breast/ovarian cancer families. These mutations are unique to the Cypriot population and one mutation in particular, in the BRCA2 gene, is a founder mutation in our population.

This work has been expanded to include familial colon cancer syndromes with emphasis on identifying mutations in the APC gene and in mismatch repair genes that predispose to HNPCC.
 
Epidemiology of breast cancer
 
The department is currently the National co-ordinating centre for an epidemiological study on breast cancer in Cyprus. This is a case control study, that aims to identify new susceptibility genes for breast cancer. Data are collected on breast cancer risk factors, as well as DNA ,from 1100 breast cancer patients and 1100 healthy women (controls).
 
Functional studies on breast cancer – Role of the BRCA genes
 
The department has accumulated a bank of breast cancer tissues from patients operated for breast cancer since 1992. Immunohistochemistry, immunoelectron microscopy, western-blot analysis and mRNA methodologies, are being used to investigate the expression of BRCA1 protein in breast cancer tissues. Recently the department has been awarded a research grant which will enable the expression and functional evaluation of BRCA Cypriot variants, in cell cultures and animal models.
 
Mitochondrial myopathies
 
In collaboration with the department of Neuropathology, the department has built up considerable expertise in the morphological diagnosis of mitochondrial myopathies. A number of articles related to the morphological diagnosis of mitochondrial diseases have been published and the department is becoming a reference centre in the region for diagnosis/research in mitochondrial myopathies. In addition the morphological diagnostic procedures are being supplemented with the introduction of molecular techniques for analyzing the mitochondrial DNA. It is noted that mitochondrial DNA analysis is only available in very few specialized Neurology Centres abroad so this will give CING the diagnostic edge in mitochondrial myopathies in the region.