Molecular methods for determination of genetic risk and monitoring some somatic mutations in families obtained additional ionizing radiation

The aim of this work is to develop the complex of molecular methods for determinations of additional ionizing radiation influence on human genome and to study some sporadic mutations in somatic cells in habitants from different regions of Belarus. Using nested ARMAS-PCR for DNA from urine cell pellets we have found that about 70% of patients with bladder cancer carry specific mutation in exon 8 of gene p53 (codon 273, T>A). Suggested method of PCR was also useful for investigation of fixated tissue samples. By study of breast cancer patients (more than 250 cases) was found that 7% are carriers of mutations in BRCA1 gene (5382insC and Cys61Gly) or BRCA2 gene (6174delT). Developed in this study complex of methods gives possibility for isolation of groups with increased risk of malignancy for conduct the cancer prevention. (Authors)