Background. Search for markers of classification of patients with high or low risk of disease development is the most important task of the molecular epidemiology. The prognostication of risk of some illnesses can be fulfilled with the help of classical risks factors, such as index of body weight, level of lipids, smoking, family history and genetic factors (polymorphism in genes BRCA1 and BRCA2 when talking about inherited breast carcinoma) etc. But these findings are not enough for the prognostication of risk of sporadic breast cancer. Occurrence of research with full genomic analysis of polymorphism on DNA microchips allowed to reveal more than 60 new polymorphisms, which can be potential markers of breast cancer development. Some of such allelic variants revealed during this research were polymorphisms in genes TOX3, SLC4A7, MAP3K1 and FGFR2.
Aim. This article is devoted to development of conditions of polymorphisms genotyping in genes TOX3, SLC4А7, MAP3K1 and FGFR2 by the pyrosequencing method and using it for detection of predisposition to sporadic breast cancer development in women.
Methods and results. As a result of conducted research there was revealed increase of polymorphism TT (Rs4973768) frequency in gene SLC4A7R2 in patients suffering from breast cancer. The ratio of chances of the risk of breast cancer development for this gene comprises 1.89 (CI = 1.01–3.397; p≤0.047), a relative risk 1.7 (p≤0.049). Ratio of chances for polymorphism Rs3803662 was 1.49, for Rs889312 — 1.59 and for Rs2981582 — 1.29.
Conclusions. The proposed method of analysis of polymorphisms in genes TOX3, SLC4A7, MAP3K1 and FGFR2 with the help of pyrosequencing technologies allows to rapidly conduct analysis of allelic variants of polymorphisms and can be used while estimating the risk of sporadic breast cancer.