FIELD: medicine; clinical oncology; medical genetics; molecular diagnostics.
SUBSTANCE: invention can be used to predict a low risk of developing breast cancer in Russian women with highly penetrating mutations in the BRCA1 and CHEK2 genes. DNA from the peripheral venous blood is isolated. The BRCA1 and CHEK2 genes are analyzed, namely the BRCAlinsC5382, BRCA1 185delAG, BRCA1 2080delA, CHEK2 I157T polymorphisms, and the rs1940475 polymorphism of MMP8 gene. A protective factor in the development of breast cancer in women with highly penetrate mutations in the BRCA1 and CHEK2 genes, namely in the polymorphic loci BRCAlinsC5382, BRCA1 185delAG, BRCA1 2080delA, CHEK2 I157T, is TT genotype of rs1940475 polymorphism of MMP8 gene.
EFFECT: method provides for obtaining new criteria for assessing the low risk of developing breast cancer in Russian women, natives of the Central Black Earth region of the Russian Federation with highly penetrating mutations in the BRCA1 and CHEK2 genes, namely in the polymorphic loci BRCAlinsC5382, BRCA1 185delAG, BRCA1 2080delA, CHEK2 I157T, based on data on the rs1940475 polymorphism of MMP8 gene.
1 cl, 5 dwg, 4 ex
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