Informative value of genetic testing of the biological environment obtained during Papanicolaou tests for ovarian cancer screening

   Purpose of the study. To assess the informative value of genetic testing for oncogenic mutations in biological samples obtained during the Papanicolaou test for ovarian cancer screening.

   Materials and methods. The study included 336 patients of the main group with verified ovarian cancer, including borderline ovarian tumors. The control group consisted of 226 patients of a similar age without oncological pathology. Patients of the main and control groups were divided into two subgroups depending on the presence of morbid obesity. Biological material from the endocervical canal was collected by brush biopsy. After standard liquid cytological examination, additional genetic testing for mutations in 18 tumor driver genes was performed using the PCR method.

   Results. In morbid obesity, the frequency of oncogenic mutations of driver genes in endocervical scraping samples increased only in borderline ovarian tumors compared to patients without obesity (64 % versus 24,3 %, p = 0,002) and was similar in ovarian cancer (37,3 % versus 30,4 %, p = 0,29). Detection of driver gene mutations in endocervical smear samples with negative Pap test results for cervical cancer and human papillomavirus infection increased the risk of ovarian tumor pathology detection regardless of the presence or absence of obesity, which determines the prospects of additional genetic testing of cervical canal material. Genetic testing of endocervical samples to assess the risk of ovarian cancer can be limited to assessing the mutational status of the TP53, FGFR 2, and CTNNB 1 genes.

   Conclusion. Additional genetic testing to detect mutations in driver genes in endocervical smear samples in women with morbid obesity is effective in screening for borderline ovarian tumors.

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