Rybchenko L. Optimization of mutations determination in the BRCA1/2 genes for medical genetic counseling of women about breast cancer

Thesis for candidate degree in Medical Sciences in specialty 03.00.15 - Genetics. - State Institution "National Research Center for Radiation Medicine of Academy of National Medical Science of Ukraine", Kyiv, 2015. The dissertation is devoted to efficiency improvement of pathogenic alleles in the BRCA1/2 genes carriers detection for medical genetic counseling of women about breast cancer on the basis of the algorithms analysis for prediction mutation status. In the study the efficacy of algorithms has been determined for the first time for calculated risk of mutation carrier in BRCA1 and BRCA2 genes in Ukrainian women, particularly in females which were exposed to Ionizing Radiation after Chernobyl accident. Predictive value and the most discriminating thresholds of algorithms were established. The frequency of BRCA1/2 mutations has been determined among healthy individuals and in patients with breast cancer and presence of radiation history. The algorithm of BRCA mutation detection has been designed. The algorithm provides strategy of rational introduction of molecular genetic examination. Key words: breast cancer, BRCA1 and BRCA2 genes mutations, algorithms of calculated the risk of mutations, ancestry, medical genetic counseling.