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

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

doi:10.18027/2224-5057-2023-13-4-46-59

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

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

https://doi.org/10.18027/2224-5057-2023-13-4-46-59

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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.

Keywords

ovarian cancer, BRCA1 / 2 mutations, molecular genetic testing

About the Authors

T. T. Tikhomirova

N. N. Blokhin National Medical Research Center of Oncology
Russian Federation

Tatiana E. Tikhomirova, oncologist, Department of Chemotherapy № 4

Moscow

A. S. Tyulyandina

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

Alexandra S. Tyulyandina, MD, PhD, DSc, Head of the Department, Department of Chemotherapy № 4

Moscow

A. A. Rumyantsev

N. N. Blokhin National Medical Research Center of Oncology
Russian Federation

Alexey A. Rumyantsev, MD, PhD, Senior Research Associate, Department of Chemotherapy № 4

Moscow

E. R. Israelyan

N. N. Blokhin National Medical Research Center of Oncology
Russian Federation

Edgar R. Israelyan, oncologist, Department of Chemotherapy № 4

Moscow

T. V. Kekeeva

Research Centre for Medical Genetics
Russian Federation

Tatiana V. Kekeeva, MD, PhD, Leading Researcher, Laboratory of Epigenetics

Moscow

O. V. Vedrova

AstraZeneca Pharmaceuticals
Russian Federation

Olga V. Vedrova, Head of Therapeutics

Moscow

M. L. Filipenko

Institute of Chemical Biology and Fundamental Medicine
Russian Federation

Maksim L. Filipenko, MD, PhD biol., Chief Researcher, Head of the Pharmacogenomics Laboratory, Siberian Branch of the Russian Academy of Sciences

Novosibirsk

L. N. Lyubchenko

National Medical Research Center of Radiology
Russian Federation

Ludmila N. Lubchenko, MD, PhD, DSc, Head of the Department of Molecular Genetics and Cell Technologies

Obninsk

I. A. Demidova

Moscow City Oncological Hospital №. 62
Russian Federation

Irina A. Demidova, MD, PhD, Head of the Laboratory of Molecular Biology

Moscow

E. N. Imyanitov

National Medical Research Center of Oncology named after N. N. Petrov
Russian Federation

Evgeny N. Imyanitov, MD, PhD, DSc, Professor, Corresponding Member of the Russian Academy of Sciences, Geneticist, Head of the Scientific Department

Saint Petersburg

S. Y. Andreev

AstraZeneca Pharmaceuticals
Russian Federation

Sergey Yu. Andreev, Director of Laboratory Diagnostics

Moscow

S. V. Khokhlova

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

Svetlana V. Khokhlova, MD, PhD, DSc, Head of the Oncology Department of Antitumor Drug Therapy

Moscow

V. V. Saevets

Chelyabinsk Regional Clinical Center of Oncology and Nuclear Medicine
Russian Federation

Valeria V. Saevets, MD, PhD, Head of the Department of Gynecological Oncology

Chelyabinsk

G. B. Statsenko

Budgetary healthcare institution of the Omsk region “Clinical Oncology Dispensary”
Russian Federation

Galina B. Statsenko, oncologist

Omsk

L. A. Kolomiets

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

Larisa A. Kolomiets, MD, PhD, DSc, Professor, Honored Scientist of the Russian Federation, Head of the Department of Gynecology, Professor, Department of Oncology, Siberian State Medical University

Tomsk

S. A. Tkachenko

State Budgetary Healthcare Institution of the Kaluga Region "Kaluga Regional Clinical Oncology Dispensary"
Russian Federation

Svetlana A. Tkachenko, Head of the Department of Antitumor Drugs and Chemotherapy

Kaluga

I. A. Koroleva

Clinic "Reaviz"
Russian Federation

Irina A. Koroleva, MD, PhD, DSc, oncologist, Clinic of the Medical University «Reaviz»

Samara

A. S. Lisyanskaya

National Medical Research Center named after V. A. Almazov
Russian Federation

Alla S. Lisyanskaya, MD, PhD, Associate Professor of the Department of Oncology, Faculty of Professional Education, PSPbSMU named after. acad. I. P. Pavlova, Deputy Chief Physician for Oncology, Honored Doctor of the Russian Federation

St. Petersburg

O. A. Bakashvili

Tver Regional Clinical Oncology Dispensary
Russian Federation

Oksana A. Bakashvili, oncologist

Tver

L. I. Krikunova

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
Russian Federation

Lyudmila I. Krikunova, chief researcher, oncologist

Obninsk

E. P. Solovieva

Arkhangelsk Clinical Oncology Dispensary
Russian Federation

Ekaterina P. Solovyova, MD, PhD, GBUZ

Arkhangelsk

D. M. Ponomarenko

Irkutsk Regional Oncology Center
Russian Federation

Dmitry M. Ponomarenko, MD, PhD, Head of Chemotherapy Department No. 1 — Antitumor Drug Therapy

Irkutsk

L. Y. Vladimirova

Rostov Research Oncology Institute, Ministry of Health of Russia
Russian Federation

Lyubov Yu. Vladimirova, MD, PhD, DSc, Professor, Head of Department of the Federal State Budgetary Institution «National Medical Research Center of Oncology» of the Ministry of Health of Russia, member of the board of RUSSCO, member of the international oncological societies ASCO, ESMO, IASLC

Rostov-on-Don

S. E. Krasilnikov

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

Sergey E. Krasilnikov, MD, PhD, DSc, Professor, Director of the Institute of Oncology and Neurosurgery

Novosibirsk

V. B. Shirinkin

Orenburg Regional Clinical Oncology Dispensary
Russian Federation

Vadim B. Shirinkin, oncologist

Orenburg

D. D. Sakaeva

Clinical Hospital "Mother and Child"
Russian Federation

Dina D. Sakaeva, MD, PhD, DSc, Deputy Chief Physician for Oncology

Ufa

E. A. Rumyantseva

Regional Clinical Oncology Dispensary
Russian Federation

Elena A. Rumyantseva, Deputy Chief Physician for the Medical Department

Vladimir

S. A. Emeliyanov

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

Sergey A. Emelyanov, Head of the chemotherapy department of the BUZ UR «RKOD n. a. S. G. Primushko MZ UR»

Izhevsk

D. L. Stroyakovskiy

Moscow City Oncological Hospital №. 62
Russian Federation

Daniil L. Stroyakovsky, MD, PhD, Head of the Chemotherapy Department

Moscow

E. G. Novikova

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
Russian Federation

Elena G. Novikova, MD, PhD, DSc, Professor, Deputy Head of the Department of Tumors of the Reproductive and Urinary Organs, Federal State Budgetary Institution «National Medical Research Center of Radiology» of the Ministry of Health of Russia

Moscow

E. A. Ronina

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
Russian Federation

Elena A. Ronina, MD, PhD, Oncologist, Research Institute of Urology and Interventional Radiology named after N. A. Lopatkin

Moscow

V. I. Vladimirov

Pyatigorsk Interdistrict Oncology Center
Russian Federation

Vladimir I. Vladimirov, MD, PhD, DSc, Professor, Head of the daily hospital

Pyatigorsk

O. Y. Novikova

Regional Clinical Oncology Center of the Ministry of Health of the Khabarovsk Territory
Russian Federation

Olga Y. Novikova, MD, Ph. D., Deputy Chief Physician for Drug Therapy

Khabarovsk

L. S. Zagumennova

Perm Regional Oncology Dispensary
Russian Federation

Lyubov S. Zagumennova, oncologist

Perm

V. V. Gorobtsova

Rostov Regional Oncology dispensary
Russian Federation

Valeria V. Gorobtsova, Head of Department of Oncogynecology, State Budgetary Institution

Rostov-on-Don

E. V. Cherepanova

Moscow Regional Oncology Dispensary
Russian Federation

Ekaterina V. Cherepanova, oncologist

Balashikha

E. N. Pashkova

Sverdlovsk Regional Oncology Center
Russian Federation

Elena N. Pashkova, Head of the Center for Gynecological Oncology, Head of the Department of Complex Therapy of the Appendages

Yekaterinburg

V. M. Moiseyenko

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

Vladimir M. Moiseenko, Corresponding Member of the Russian Academy of Sciences, Doctor of Medical Sciences, Professor, Honored Doctor of the Russian Federation, Director

St. Petersburg

F. G. Ivanova

Yakut Republican Oncology Dispensary
Russian Federation

Feodosia G. Ivanova, Chief Oncologist of the Republic of Sakha (Yakutia), MD, Ph. D., Head of the Department of OPLT of the State Budgetary Institution of the Republic

Yakutsk

D. P. Udovitsa

Oncological dispensary No. 2 of the Ministry of Health of the Krasnodar Territory
Russian Federation

Dmitry P. Udovitsa, oncologist

Sochi

V. V. Karaseva

Russian Society of Clinical Oncology
Russian Federation

Vera V. Karaseva, MD, PhD, DSc, Professor, Executive Director

Moscow

S. A. Tyulyandin

N. N. Blokhin National Medical Research Center of Oncology
Russian Federation

Sergey A. Tjulandin, MD, PhD, DSc, Professor, Chief Scientific Associate, Department of Chemotherapy № 2

Moscow

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For citations:

Tikhomirova T.T., Tyulyandina A.S., Rumyantsev A.A., Israelyan E.R., Kekeeva T.V., Vedrova O.V., Filipenko M.L., Lyubchenko L.N., Demidova I.A., Imyanitov E.N., Andreev S.Y., Khokhlova S.V., Saevets V.V., Statsenko G.B., Kolomiets L.A., Tkachenko S.A., Koroleva I.A., Lisyanskaya A.S., Bakashvili O.A., Krikunova L.I., Solovieva E.P., Ponomarenko D.M., Vladimirova L.Y., Krasilnikov S.E., Shirinkin V.B., Sakaeva D.D., Rumyantseva E.A., Emeliyanov S.A., Stroyakovskiy D.L., Novikova E.G., Ronina E.A., Vladimirov V.I., Novikova O.Y., Zagumennova L.S., Gorobtsova V.V., Cherepanova E.V., Pashkova E.N., Moiseyenko V.M., Ivanova F.G., Udovitsa D.P., Karaseva V.V., Tyulyandin S.A. BRCA-associated ovarian cancer in the russian patient population. Analysis of the non-interventional study Ovatar. Malignant tumours. 2023;13(4):46-59. (In Russ.) https://doi.org/10.18027/2224-5057-2023-13-4-46-59

This work is licensed under a Creative Commons Attribution 4.0 License.

ISSN 2224-5057 (Print)
ISSN 2587-6813 (Online)

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Malignant tumours

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

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Abstract

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About the Authors

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