The reduction of two BRCA1 gene mutations frequencies in ovarian cancer patients from Ukraine
| Autor: | Mariia Inomistova, Ielizaveta Gorodetska, Yurii Michailovich, Larysa Poluben, Svitlana Kyriachenko, Anna Bychkova, Z.I. Rossokha, Anna Stefanovich, Natalia Khranovska, B. T. Klimuk, S V Klymenko, Svitlana Serga, Oksana Skachkova, Olga Ponomarova, N G Gorovenko, Iryna Kozeretska, Olena Popova, Luydmila Rybchenko |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty endocrine system diseases business.industry medicine.disease Frameshift mutation law.invention 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Germline mutation Breast cancer law 030220 oncology & carcinogenesis Internal medicine Cohort Genetics medicine Ovarian cancer business Gene Genetics (clinical) Brca1 gene Polymerase chain reaction |
| Zdroj: | Meta Gene. 29:100900 |
| ISSN: | 2214-5400 |
| DOI: | 10.1016/j.mgene.2021.100900 |
| Popis: | Background In Ukraine, 3539 patients were diagnosed with ovarian cancer in 2018, and more than half of these cases were lethal. One of the risk factors for ovarian cancer development are the alterations in the breast cancer gene 1 (BRCA1). Among these alterations, the most frequent is the germline mutation 185delAG and the frameshift mutation 4153delA. The frequencies of these mutations were identified earlier (Tsip et al., 2019) in ovarian cancer patients from Ukraine. Objective The present study aimed to evaluate the frequency of the mutations 185delAG and 4153delA in the BRCA1 gene in an unselected ovarian cancer patient's cohort from Ukraine. Materials and methods We screened 663 ovarian cancer patients diagnosed at different ages by routine allele-specific polymerase chain reaction (PCR) and real-time PCR. Results 13 cases of two BRCA1 mutations were detected (4 cases of 185delAG and 9 cases of 4153delA). Conclusions Out of 663 ovarian cancer patients, 4 cases with 185delAG and 9 cases of 4153delA in the BRCA1 gene were identified, giving a frequency of 2.0 ± 0.5%. Our data shows that the previous mutations screening results in ovarian cancer patients from Ukraine were higher than in the present study. |
| Databáze: | OpenAIRE |
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