Molecular genetic studies in patients with cancer and benign tumor of the female reproductive system from the families with history of cancer

Paliychuk O.1, Chekhun V.1, Gorovenko N.G.2, Rossokha Z.*3, Polischuk L.1

O. Paliychuk1, V. Chekhun1, N. Gorovenko2, Z. Rossokha3, L. Polischuk1

1R.E. Kavetsky Institute of Experimental Pathology, Oncology and Radiobiology, NAS of Ukraine, Kyiv, Ukraine

2P.L. Shupik National Medical Academy of Post-Graduate Education, Kyiv, Ukraine

3Reference-Centre for Molecular Diagnostic, Ministry of Public Health of Ukraine, Kyiv, Ukraine

IntroductionScreening of single nucleotide polymorphisms (SNP) allows determining the genetic predisposition to various multifactorial diseases and may help to predict individual sensitivity to pharmacological agents. Aim: To conduct clinical-genealogic, molecular-genetic studies in patients with ovarian cancer (OC) and / or breast cancer (BC), benign tumor of the female reproductive system from the families with cancer history. Patients and Methods: The clinical-genealogic study of 45 patients aged 25–72 years was carried out. 19 (42.2%) patients had cancer of the female reproductive organs (OC, BC, stage I-II), 26 (57.8%) — benign tumor of the uterus, ovary and breast. The genetic analysis was used to identify BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) genes mutations and ESR1 (T-397CA-351G), Cyp2D6*4 (G1846A) genes polymorphism in peripheral blood DNA of the patients. ResultsAmong 19 OC and BC patients with familial cancer 5382insC mutation in BRCA1 gene was detected in 2 (10.5%) patients. Other mutations in BRCA1/2 genes were not found. The -397C allele (CC and CT genotypes) of ESR1 gene was detected with the same frequency in patients with cancer and benign tumor, respectively, 50.0 and 45.7% (> 0.05). The frequency of -351G allele (GG and AG genotypes) of ESR1 gene was significantly higher in cancer patients compared to patients with benign tumor, respectively, 71.4 and 25.7% (p < 0.05). However, the frequency of 1846A allele (GA and AA genotypes) of Cyp2D6*4 gene was significantly higher in women with benign tumor than in cancer patients, respectively, 17.1% and 0.05% (< 0.05). Among cancer patients we found more individuals (13–68.4%) with combination of two polymorphisms in investigated genes in comparison with benign tumor patients (12–46.2%). ConclusionAnalysis of BRCA1/2 genes mutations and polymorphic variants of ESR1 gene among healthy patients with familial cancer can be useful tool for genetic risk estimation of cancer development.

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