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https://doi.org/10.14300/mnnc.2022.17011

Polymorphisms of the rs9594738 and rs9594759 associated with breast cancer metastasis

[Oncology]
Oleg Kit; Olga Sergeevna Shlyk; Larisa Vashchenko; Irina Dashkova; Natalya Nikolaevna Timoshkina; Anton Andreevich Pushkin; Vladislavovna Zaikina Ekaterina; Elena Nikolaevna Chernikova;

In recent years, the RANKL relation with the risk of osteopenia and osteoporosis in different populations has been actively studied. In the research was to study the rs9594738 and rs9594759 polymorphisms association with a decrease of bone mineral density in patients with breast cancer. In the work breast cancer patients were genotyped by allele-specific PCR and Sanger sequencing. Results. The analysis of genetic risk factors, which deal with a decrease of bone mineral density, was carried out. The rs9594738 polymorphism occurred in the general group with a frequency of 0.440. The frequency of occurrence of the rs9594759 polymorphism was 0.490. It was found that the presence of two alleles were associated with the increased risk of breast cancer metastasis for homozygotes for rs9594738 and rs9594759 only in the group of patients with breast cancer metastases to the bone (OR=3.14, 95 % CI 1.5–6.24, p=0.0014) for 3.14 times. The obtained sensitivity of the metastatic risk model was 74.3 %, specificity – 69.1 %.
In conclusion all the studied polymorphisms can be considered as a complex model for assessing the risk of bone breast cancer metastasis.

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Keywords: breast cancer, metastases, osteoporosis, bone mineral density, polymorphism rs9594738, rs9594759