| Title: |
BRCA-associated ovarian cancer in the russian patient population. Analysis of the non-interventional study Ovatar ; Brca-ассоциированный рак яичников в российской популяции пациенток. Анализ неинтервенционного исследования OVATAR |
| Authors: |
T. T. Tikhomirova; A. S. Tyulyandina; A. A. Rumyantsev; E. R. Israelyan; T. V. Kekeeva; O. V. Vedrova; M. L. Filipenko; L. N. Lyubchenko; I. A. Demidova; E. N. Imyanitov; S. Y. Andreev; S. V. Khokhlova; V. V. Saevets; G. B. Statsenko; L. A. Kolomiets; S. A. Tkachenko; I. A. Koroleva; A. S. Lisyanskaya; O. A. Bakashvili; L. I. Krikunova; E. P. Solovieva; D. M. Ponomarenko; L. Y. Vladimirova; S. E. Krasilnikov; V. B. Shirinkin; D. D. Sakaeva; E. A. Rumyantseva; S. A. Emeliyanov; D. L. Stroyakovskiy; E. G. Novikova; E. A. Ronina; V. I. Vladimirov; O. Y. Novikova; L. S. Zagumennova; V. V. Gorobtsova; E. V. Cherepanova; E. N. Pashkova; V. M. Moiseyenko; F. G. Ivanova; D. P. Udovitsa; V. V. Karaseva; S. A. Tyulyandin; Т. Е. Тихомирова; А. С. Тюляндина; А. А. Румянцев; Э. Р. Исраелян; Т. В. Кекеева; О. В. Ведрова; М. Л. Филипенко; Л. Н. Любченко; И. А. Демидова; Е. Н. Имянитов; С. Ю. Андреев; С. В. Хохлова; В. В. Саевец; Г. Б. Стаценко; Л. А. Коломиец; С. А. Ткаченко; И. А. Королева; А. С. Лисянская; О. А. Бакашвили; Л. И. Крикунова; Е. П. Соловьева; Д. М. Пономаренко; Л. Ю. Владимирова; С. Э. Красильников; В. Б. Ширинкин; Д. Д. Сакаева; Е. А. Румянцева; С. А. Емельянов; Д. Л. Строяковский; Е. Г. Новикова; Е. А. Ронина; В. И. Владимиров; О. Ю. Новикова; Л. С. Загуменнова; В. В. Горобцова; Е. В. Черепанова; Е. Н. Пашкова; В. М. Моисеенко; Ф. Г. Иванова; Д. П. Удовица; В. В. Карасева; С. А. Тюляндин |
| Source: |
Malignant tumours; Том 13, № 4 (2023); 46-59 ; 2587-6813 ; 2224-5057 |
| Publisher Information: |
Rosoncoweb |
| Publication Year: |
2024 |
| Collection: |
Malignant tumours (E-Jounal) / Злокачественные опухоли |
| Subject Terms: |
молекулярно-генетическое тестирование; BRCA1 / 2 mutations; molecular genetic testing; мутации в генах BRCA1/2 |
| Description: |
Purpose: To evaluate the proportion of BRCA1 / 2 mutations in patients with serous and endometrioid cancer of the ovary, fallopian tube, and peritoneum in Russia, to evaluate the percentage of germinal and somatic mutations, to identify the spectrum of mutations in BRCA1 / 2 genes, to evaluate clinical and morphological features of the BRCA-associated ovarian cancer (OC).Patients and methods: The study enrolled patients of 18 years and older with newly diagnosed serous and endometrioid cancer of the ovary, fallopian tube, and peritoneum. Biological material (blood, tumor tissue) was collected, followed by molecular genetic analysis. The method of mutations detecting in the blood were: allele-specific PCR, high-resolution melting (HRM), Sanger sequencing method. Advanced genetic testing included the use of generation sequencing (NGS) and multiplex amplification of ligated probes (MLPA). The collection of clinical data, family history, clinical and morphological characteristics of the tumor was performed.Results: 500 patients were included in the study, the evaluation of BRCA1 / 2 mutations was performed in 496 patients (99,2 %). The frequency of BRCA1 / 2 mutations in the Russian patient population was 28,4 % (n = 141 / 496). The incidence of germinal mutations was 23,5 % (n = 117 / 141), and somatic — 4,8 % (n = 24 / 141). Frequent mutations in the Russian population were identified in 50 % of cases. When analyzing the ethnicity of patients in the Russian Federation BRCA-associated OC was most common in Russian (83,6 %, n = 118 / 141), Ukrainian (4,2 %, n = 6 / 141) and Tatar (3,5 %, n = 5 / 141) women. A family history of cancer was detected in 44 % of patients (n = 62 / 141) with BRCA1 / 2 mutations.Conclusions: Due to the high frequency of germinal and somatic BRCA1 / 2 mutations in the Russian patients it is recommended to conduct the advanced testing methods not only in blood samples but also in tumor tissue. ; Цель исследования: Определение доли мутаций в генах BRCA1/2 у пациенток с серозным и ... |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
Russian |
| Relation: |
https://www.malignanttumors.org/jour/article/view/1275/913; International Agency for Research on Cancer Global Cancer Observatory : Cancer Today. [(accessed on 5 June 2022)]; Available online: https://gco.iarc.fr/today/online-analysis-table [Ref list].; American Cancer Society Key Statistics for Ovarian Cancer. [(accessed on 5 June 2022)]. Available online: https://www.cancer.org/cancer/ovarian-cancer/about/key-statistics.html [Ref list].; Ghose A, Bolina A, Mahajan I, Raza SA, Clarke M, Pal A, et al. Hereditary Ovarian Cancer : Towards a Cost-Effective Prevention Strategy. Int J Environ Res Public Health. 2022 Sep 23; 19 (19) : 12057. doi:10.3390/ijerph191912057. PMID : 36231355; PMCID : PMC9565024.; Hinchcliff E.M., Bednar E., Lu K.H., Rauh-Hain J.A. Disparities in gynecologic cancer genetics evaluation. Gynecol. Oncol. 2019; 153 : 184–191. doi:10.1016/j.ygyno.2019.01.024.; Kanchi K.L., Johnson K.J., Lu C., McLellan M.D., Leiserson M.D.M., Wendl M.C., et al. Integrated analysis of germline and somatic variants in ovarian cancer. Nat. Commun. 2014; 5 : 3156. doi:10.1038/ncomms4156.; Biglia N., Sgandurra P., Bounous V.E., Maggiorotto F., Piva E., Pivetta E., et al. Ovarian cancer in BRCA1 and BRCA2 gene mutation carriers : Analysis of prognostic factors and survival. Ecancermedicalscience. 2016; 10 : 639. doi:10.3332/ecancer.2016.639.; Hunn J., Rodriguez G.C. Ovarian cancer : Etiology, risk factors, and epidemiology. Clin. Obstet. Gynecol. 2012; 55 : 3–23. doi:10.1097/GRF.0b013e31824b4611.; Andrews L, Mutch DG. Hereditary Ovarian Cancer and Risk Reduction. Best Pract Res Clin Obstet Gynaecol. 2017 May; 41 : 31–48. doi:10.1016/j.bpobgyn.2016.10.017. Epub 2017 Jan 17. PMID : 28254144.; Любченко Л. Н., Батенева Е. И. Медико-генетическое консультирование и ДНК-диагностика при наследственной предрасположенности к раку молочной железы и раку яичников .– м. : иг РОНЦ, 2014.; Alsop K, Fereday S, Meldrum C, deFazio A, Emmanuel C, George J, et al. BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer : a report from the Australian Ovarian Cancer Study Group. [Erratum appears in J Clin Oncol. 2012 Nov 20; 30 (33) : 4180]. Journal of Clinical Oncology 2012.30 (21) : 2654–63.; Bolton KL, Chenevix-Trench G, Goh C, Sadetzki S, Ramus SJ, Karlan BY, et al. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA 2012.307 (4) : 382–90.; Patch AM, Christie EL, Etemadmoghadam D, Garsed DW, George J, Fereday S, et al. Wholegenome characterization of chemoresistant ovarian cancer. Nature 2015.521 (7553) : 489–94.; https://www.malignanttumors.org/jour/article/view/1275 |
| DOI: |
10.18027/2224-5057-2023-13-4-46-59 |
| Availability: |
https://www.malignanttumors.org/jour/article/view/1275; https://doi.org/10.18027/2224-5057-2023-13-4-46-59 |
| Rights: |
Authors who publish with this journal agree to the following terms:Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access). ; Авторы, публикующие в данном журнале, соглашаются со следующим:Авторы сохраняют за собой авторские права на работу и предоставляют журналу право первой публикации работы на условиях лицензии Creative Commons Attribution License, которая позволяет другим распространять данную работу с обязательным сохранением ссылок на авторов оригинальной работы и оригинальную публикацию в этом журнале.Авторы сохраняют право заключать отдельные контрактные договоренности, касающиеся не-эксклюзивного распространения версии работы в опубликованном здесь виде (например, размещение ее в институтском хранилище, публикацию в книге), со ссылкой на ее оригинальную публикацию в этом журнале.Авторы имеют право размещать свою работу в сети Интернет (например в институтском хранилище или персональном сайте) до и во время процесса рассмотрения ее данным журналом, так как это может привести к продуктивному обсуждению и большему количеству ссылок на данную работу (См. The Effect of Open Access). |
| Accession Number: |
edsbas.A9F68475 |
| Database: |
BASE |