Rybchenko L A, Poluben L O, Bychkova G M, Stephanovych G V, Klymenko S V
State Institution «National Research Center for Radiation Medicine of the National Academy of MedicalSciences of Ukraine», 53 Yuriia Illienka St., Kyiv, 04050, Ukraine.
Probl Radiac Med Radiobiol. 2019 Dec;24:455-464. doi: 10.33145/2304-8336-2019-24-455-464.
to determine a frequency of germline mutations 185delAG, 5382insC in BRCA1 gene and 6174delT in BRCA2 gene in Ukrainian patients with OC including women who were exposed to the factors of Chornobyl nuclear accident.
In the study we enrolled 306 OC patients of different age who were tested for the presence of the major BRCA1 and BRCA2 gene mutations using allele specific multiplex polymerase chain reaction.
The mutation frequency in patients exposed to IR with OC (main group) was 5.3 % (2 from 38). Among unexposed patients (control group) 11,2 % (30 from 268) of cases with mutation were identified. However, the dif- ference between the groups was not significant (p = 0.39). It was shown that the BRCA1/2 mutations frequency in the patient of both groups was 10,4 % (32 from 306). The mutation BRCA1 5382insC was positive in 87.5 % (28 from 32) of cases, nevertheless nobody was identified with the allelic variant BRCA2 6174delT among both groups. There was a tendency toward an earlier age of the OC manifestation in the patients exposed to IR due to Chornobyl nuclear accident compared to BRCA-positive women of the control group (р = 0.06). When comparing BRCA-positive and BRCA-negative patients with OC of the main group, there was a statistical significance regarding the earlier age of the disease manifestation in the patients with mutations (р = 0.04). However, such difference was not observed in the control group (р = 0.22).
The frequency of the mutations in exposed to IR and unexposed patients with OC does not differ and depends on a spectrum of studied BRCA1/2 gene mutations, level of DNA amplification and sample number. The allel- ic variant BRCA1 5382insC is dominant and accounts for 87.5 % of the total number of the found mutations. Due to the radiation factor the OC in the BRCA1-positive individuals is realized at the earlier age than in patients negative for these mutations. The incidence of OC after the Chornobyl accident was observed 27-38 years later in a cohort of women who were from 4 to 40 years old at the moment of the nuclear explosion.
确定乌克兰卵巢癌患者（包括受切尔诺贝利核事故因素影响的女性）中BRCA1基因185delAG、5382insC突变以及BRCA2基因6174delT突变的频率。
本研究纳入了306例不同年龄的卵巢癌患者，采用等位基因特异性多重聚合酶链反应检测主要BRCA1和BRCA2基因突变的存在情况。
受辐射且患卵巢癌的患者（主要组）的突变频率为5.3%（38例中有2例）。在未受辐射的患者（对照组）中，发现11.2%（268例中有30例）有突变。然而，两组之间的差异不显著（p = 0.39）。结果显示，两组患者中BRCA1/2基因突变频率为10.4%（306例中有32例）。BRCA1 5382insC突变在87.5%（32例中有28例）的病例中呈阳性，不过两组中均未发现携带BRCA2 6174delT等位基因变异的患者。与对照组的BRCA阳性女性相比，因切尔诺贝利核事故受辐射的卵巢癌患者有发病年龄更早的趋势（р = 0.06）。比较主要组中BRCA阳性和BRCA阴性的卵巢癌患者时，突变患者的疾病发病年龄更早具有统计学意义（р = 0.04）。然而，在对照组中未观察到这种差异（р = 0.22）。
受辐射和未受辐射的卵巢癌患者的突变频率没有差异，这取决于所研究的BRCA1/2基因突变谱、DNA扩增水平和样本数量。BRCA1 5382insC等位基因变异占主导，占所发现突变总数的87.5%。由于辐射因素，BRCA1阳性个体的卵巢癌发病年龄比这些突变阴性患者更早。在核爆炸时年龄为4至40岁的女性队列中，切尔诺贝利事故后27至38年观察到卵巢癌发病率升高。
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