BRCA-associated ovarian cancer in the russian patient population. Analysis of the non-interventional study Ovatar-Reference-Cited by-同舟云学术

BRCA-associated ovarian cancer in the russian patient population. Analysis of the non-interventional study Ovatar

Published:2024-01-16 Issue:4 Volume:13 Page:46-59
ISSN:2587-6813
Container-title:Malignant tumours
language:
Short-container-title:Malignant Tumours

Author:

Tikhomirova T. T.¹,Tyulyandina A. S.²,Rumyantsev A. A.¹,Israelyan E. R.¹,Kekeeva T. V.³,Vedrova O. V.⁴,Filipenko M. L.⁵,Lyubchenko L. N.⁶,Demidova I. A.⁷,Imyanitov E. N.⁸,Andreev S. Y.⁴,Khokhlova S. V.⁹,Saevets V. V.¹⁰,Statsenko G. B.¹¹,Kolomiets L. A.¹²,Tkachenko S. A.¹³,Koroleva I. A.¹⁴,Lisyanskaya A. S.¹⁵,Bakashvili O. A.¹⁶,Krikunova L. I.¹⁷,Solovieva E. P.¹⁸,Ponomarenko D. M.¹⁹,Vladimirova L. Y.²⁰,Krasilnikov S. E.²¹,Shirinkin V. B.²²,Sakaeva D. D.²³,Rumyantseva E. A.²⁴,Emeliyanov S. A.²⁵,Stroyakovskiy D. L.⁷,Novikova E. G.²⁶,Ronina E. A.²⁷,Vladimirov V. I.²⁸,Novikova O. Y.²⁹,Zagumennova L. S.³⁰,Gorobtsova V. V.³¹,Cherepanova E. V.³²,Pashkova E. N.³³,Moiseyenko V. M.³⁴,Ivanova F. G.³⁵,Udovitsa D. P.³⁶,Karaseva V. V.³⁷,Tyulyandin S. A.¹

Affiliation:

1. N. N. Blokhin National Medical Research Center of Oncology

2. N. N. Blokhin National Medical Research Center of Oncology; I. M. Sechenov First Moscow State Medical University (Sechenov University)

3. Research Centre for Medical Genetics

4. AstraZeneca Pharmaceuticals

5. Institute of Chemical Biology and Fundamental Medicine

6. National Medical Research Center of Radiology

7. Moscow City Oncological Hospital №. 62

8. National Medical Research Center of Oncology named after N. N. Petrov

9. National Medical Research Center of Obstetrics, Gynecology and Perinatology named after. Academician V.I. Kulakov

10. Chelyabinsk Regional Clinical Center of Oncology and Nuclear Medicine

11. Budgetary healthcare institution of the Omsk region “Clinical Oncology Dispensary”

12. Research Institute of Oncology, Tomsk National Research Medical Center of the Russian Academy of Sciences

13. State Budgetary Healthcare Institution of the Kaluga Region "Kaluga Regional Clinical Oncology Dispensary"

14. Clinic "Reaviz"

15. National Medical Research Center named after V. A. Almazov

16. Tver Regional Clinical Oncology Dispensary

17. Medical Radiological Research Center named after. A.F. Tsyba - branch of the Federal State Budgetary Institution "National Medical Research Center of Radiology" of the Ministry of Health of Russia

18. Arkhangelsk Clinical Oncology Dispensary

19. Irkutsk Regional Oncology Center

20. Rostov Research Oncology Institute, Ministry of Health of Russia

21. National Medical Research Center named after Academician E.N. Meshalkin Ministry of Health of Russia

22. Orenburg Regional Clinical Oncology Dispensary

23. Clinical Hospital "Mother and Child"

24. Regional Clinical Oncology Dispensary

25. Republican Clinical Oncology Dispensary named after. S. G. Primushko Ministry of Health of the Udmurt Republic

26. Moscow Research Oncology Institute named after P.A. Herzen - branch of the Federal State Budgetary Institution "National Medical Research Center of Radiology" of the Ministry of Health of Russia

27. Research Institute of Urology and Interventional Radiology named after N.A. Lopatkina – branch of the Federal State Budgetary Institution “National Medical Research Center of Radiology” of the Ministry of Health of Russia

28. Pyatigorsk Interdistrict Oncology Center

29. Regional Clinical Oncology Center of the Ministry of Health of the Khabarovsk Territory

30. Perm Regional Oncology Dispensary

31. Rostov Regional Oncology dispensary

32. Moscow Regional Oncology Dispensary

33. Sverdlovsk Regional Oncology Center

34. St. Petersburg Clinical Scientific and Practical Center for Specialized Types of Medical Care (Oncology) named after N.P. Napalkova

35. Yakut Republican Oncology Dispensary

36. Oncological dispensary No. 2 of the Ministry of Health of the Krasnodar Territory

37. Russian Society of Clinical Oncology

Abstract

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.

Publisher

Russian Society of Clinical Oncology

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