of the North Caucasus
Series ПИ #ФС 77-26521.
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BRCA-associated ovarian cancer in Crimean patients
[Oncology]
Guzel Mustafaevna Salieva; Anatoly Vladimirovich Kubyshkin; Ilya Olegovich Golovkin; Anastasia Vladimirovna Kamysheva; Kazim Alievich Aliyev; Elena Valentinovna Ponomareva;
The article presents the results of study aimed at identifying the molecular genetic profile of ovarian cancer in Crimean patients. The 110 participants involved in the study underwent the process of detecting mutations in genes predisposed to ovarian cancer by real-time PCR. As a molecular genetic study revealed, the frequency of BRCA mutations in the group of patients was 16.4 %. A comparative analysis was held focusing on groups of patients carrying mutations, as well as patients who were found to have no mutations. Most of the identified mutations correspond to the panel of «trouble spots» used in the Russian Federation, whereas the total percentage of detection is significantly lower compared to the data for the Russian population.
References:
1. Parsons M. T., de la Hoya M., Richardson M. E., Tudini E., Anderson M. [et al.]. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel. Am. J. Hum. Genet. 2024;111(9):2044-2058. https://doi.org/10.1016/j.ajhg.2024.07.013
2. Ghose A., Bolina A., Mahajan I., Raza S. A., Clarke M. [et al.]. Hereditary Ovarian Cancer: Towards a Cost-Effective Prevention Strategy. Int. J. Environ. Res. Public Health. 2022;19(19):12057. https://doi.org/10.3390/ijerph191912057
3. Hinchcliff E. M., Bednar E., Lu K. H., Rauh-Hain J. A. Disparities in gynecologic cancer genetics evaluation. Gynecol. Oncol. 2019;153:184-191. https://doi.org/10.1016/j.ygyno.2019.01.024
4. Kjeldsen M. K., Jørgensen M., Grønseth D. S. B., Schønemann-Lund M., Nyvang G. B. [et al.]. Beyond HRD Сведения об авторах: Status: Unraveling Genetic Variants Impacting PARP Inhibitor Sensitivity in Advanced Ovarian Cancer. Cancer Res. Commun. 2024;4(12):3190-3200. https://doi.org/10.1158/2767-9764.CRC-24-0294
5. Tikhomirova T. E., Tyulyandina A. S., Rumyantsev A. A., Israelyan E. R., Kekeeva T. V. [et al.]. BRCA-associated ovarian cancer in the Russian patient population. Analysis of the non-interventional study OVATAR. Zlokachestvennye opukholi. – Malignant Tumors. 2023;13( 4):46-59. (In Russ.). https://doi.org/10.18027/2224-5057-2023-13-4-46-59
Keywords: ovarian cancer, genetic testing, BRCA1, BRCA2, CHEK2
Founders:
Stavropol State Medical Academy
Pyatigorsk State Research Institute of Balneotherapeutics
Pyatigorsk State Pharmaceutical Academy