Introduction/Background The purpose of this research is to study the spectrum and frequency of hereditary BRCA1/2 mutations in ovarian cancer (OC) patients in Ukraine.
Methodology The spectrum and frequency of hereditary mutations BRCA1 (5382insC, 185delAG, 4153delA, 300 T>G, 2080delA) and BRCA2 6174delT in 424 OC patients aged 15 to 81 years. In Ukraine, sequencing was not carried out, so the choice of the type of mutations was determined by the type mutations of the neighboring countries where sequencing was carried out.
DNA from peripheral blood samples was extracted using the phenol-chloroform method and the DNA extraction kit ‘DNA-SORB-B’ (AmpliSense, Russian Federation). DNA concentration in all samples was measured by ThermoScientific NanoDrop-1000 (Thermo Fisher Scientific, USA).
Real-time PCR was performed using the 7500 Real-Time PCR System (Applied Biosystems, USA). Each sample was run in duplicates.
Results Hereditary BRCA1/2 mutations were diagnosed in 12% of Ukrainian patients with OC. The average age of mutations carriers is 50 years. The majority of patients have been diagnosed with the BRCA1 5382insC mutation - in 67% of cases. Next in frequency, 300 T> G mutations were diagnosed in 18% of patients, 4153delA in 9%, 185delAG in 4% and 2080delA in 2% of patients.
Conclusion The spectrum and frequency of hereditary BRCA1/2 mutations in patients with OC in different regions of Ukraine differ significantly. However, since the choice of the type of mutations to be determined by PCR was based on the data of sequencing in neighboring countries, the results may not reflect the real situation in the country and require further study.
Such mutation analysis is important not only for precise OC treatment but for screening the relatives of mutation carriers.
Disclosure Nothing to disclose.
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