Hossein R. Molecular genetic markers of breast cancer in patients with different age groups

The main goal of dissertation was to study the frequency of BRCA mutation, mtDNA4977 deletion and several morphological and immunohistochemical parameters in Iranians and Ukrainians breast cancers patients. The proportion of cases with one of BRCA mutations (5382insC) was 8,8 % in Iranian breast cancer patients and 9,2% in Ukrainian breast cancer patients. Frequency of 185delAG and 6174delT were respectively 4,44% and 2,1% in Ukrainian breast cancer patients. Frequency of familial breast cancer was 32,1% for Iranian breast cancer patients and 28,6% for Ukrainian breast cancer patients. The mtDNA4977 deletion was highly prevalent in peripheral blood (56%), but it was absent in the breast tissue of cancer cases.Our analysis shows that testing of mtDNA4977 deletions and 5382insC in combination with morphological and immunohistochemical parameters may be effective and inexpensive tool in testing breast cancer. We developed and introduced into clinical practice a diagnostic algorithm targeted at active identification of hereditary breast cancer by diagnosis of three BRCA mutation, mitochondrial common deletion and clinical parameters.