STRUCTURAL AND FUNCTIONAL ANALYSIS OF TUMOR GENOMES AND THE DEVELOPMENT OF TEST SYSTEMS FOR EARLY DIAGNOSIS, PROGNOSIS AND CANCER THERAPY OPTIMIZATION

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Abstract

The article discusses results of the structural and functional analysis of molecular genetic abnormalities in various malignant tumors. Investigations have discovered more than 20 new markers for sporadic breast cancer. Several of them formed the test system, allowing the diagnosis with a specificity of 100%. Appearance of TMPRSS2/ERG4 chimeric gene is a frequent tumor-specific event, its expression is correlated with more aggressive forms of prostate cancer, may serve as a molecular marker for tumor cells and androgen assessment of tumor response to hormonal therapy. The effective systems for the early diagnosis of cervix and endometrium cancer were developed as well. Mutations in the VHL, deletions of chromosome 3 and methylation of several genes can predict the course and selection of effective therapy of clear cell kidney cancer. a number of molecular markers were identified for early diagnosis and prognosis of recurrence of bladder cancer. For diagnosis, prognosis and treatment of brain tumors we developed an effective complex system of markers. Protocol of molecular genetics investigation reveals the cause of the disease by more than 90% of patients with retinoblastoma. In order to study abnormal methylation in tumor genomes an innovative technology AFLOAT has been developed that allows to efficiently identify new markers with diagnostic value. Test systems of molecular genetic and epigenetic markers for early diagnosis and prognosis as well as for cancer therapy optimization have shown to be effective, have been approved for use in clinical practice and are being introduced into practical healthcare.

About the authors

D. V. Zaletaev

Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation
I.M. Sechenov First Moscow State Medical University, Russian Federation

Author for correspondence.
Email: zalnem@mail.ru
PhD, professor, Head of the epigenetics laboratory of the Federal State Budgetary Institution «Scientific Research Center of Medical Genetics» of RAMS, Head of the laboratory of human molecular genetics of I.M. Sechenov First Moscow State Medical University Address: 1, Moskvorechye St., Moscow, 115478, tel.: (985) 991-64-46 Russian Federation

V. V. Strel'nikov

Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation

Email: vstrel@list.ru
PhD, assistant professor, leading scientist of the epigenetics laboratory of the Federal State Budgetary Institution «Scientific Research Center of Medical Genetics» of the RAMS Address: Moskvorechye St., 1, Moscow, 115478, tel.: (495) 622-96-35 Russian Federation

M. V. Nemtsova

I.M. Sechenov First Moscow State Medical University, Russian Federation

Email: nemtsova_m_v@mail.ru
a, PhD, professor, leading scientist of the laboratory of human molecular genetics of the Statefunded Educational Institution of Higher Professional Education «I.M. Sechenov First Moscow State Medical University» Address: Trubetskaya St., 8, build. 2, Moscow, 119991, tel.: (495) 622-96-35 Russian Federation

O. V. Babenko

Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation

Email: polyakk@list.ru
MD, leading scientist of the epigenetics laboratory of the Federal State Budgetary Institution «Scientific Research Center of Medical Genetics» of the RAMS Address: Moskvorechye St., 1, Moscow, 115478, tel.: (495) 622-96-35 Russian Federation

E. B. Kuznetsova

Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation
I.M. Sechenov First Moscow State Medical University, Russian Federation

Email: kuznetsova.k@bk.ru
MD, senior scientist of the epigenetics laboratory of the Federal State Budgetary Institution «Scientific Research Center of Medical Genetics» of the RAMS, leading scientist of the laboratory of human molecular genetics of I.M. Sechenov First Moscow State Medical University Address: Moskvorechye St., 1, Moscow, 115478, tel.: (495) 622-96-35 Russian Federation

V. V. Zemlyakova

Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation
I.M. Sechenov First Moscow State Medical University, Russian Federation

Email: valzem@inbox.ru
MD, senior scientist of the epigenetics laboratory of the Federal State Budgetary Institution «Scientific Research Center of Medical Genetics» of the RAMS, senior scientist of the laboratory of human molecular genetics of I.M. Sechenov First Moscow State Medical University, The Ministry of Health of the Russian Federation Address: Moskvorechye St., 1, Moscow, 115478, tel.: (495) 622-96-35 Russian Federation

T. V. Kekeeva

Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation

Email: kekeeva@mail.ru
MD, research scientist of the laboratory of human molecular genetics of I.M. Sechenov First Moscow State Medical University, The Ministry of Health of the Russian Federation Address: Trubetskaya St., 8, build. 2, Moscow, 119991, tel.: (495) 622-96-35 Russian Federation

D. S. Mikhailenko

Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation

Email: dimserg@mail.ru
MD, senior scientist of the epigenetics laboratory of the Federal State Budgetary Institution «Scientific Research Center of Medical Genetics» of the RAMS Address: Moskvorechye St., 1, Moscow, 115478, tel.: (495) 622-96-35 Russian Federation

A. S. Tanas

Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation

Email: tanas80@gmail.com
MD, research scientist of the epigenetics laboratory of the Federal State Budgetary Institution «Scientific Research Center of Medical Genetics» of RAMS Address: Moskvorechye St., 1, Moscow, 115478, tel.: (495) 622-96-35 Russian Federation

V. V. Rudenko

Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation

Email: shkarupo@mail.ru
PhD in biological sciences, research scientist of the epigenetics laboratory of the Federal State Budgetary Institution «Scientific Research Center of Medical Genetics» of the RAMS Address: Moskvorechye St., 1, Moscow, 115478, tel.: (495) 622-96-35 Russian Federation

A. Yu. Babayan

Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation

Email: babayan-a@inbox.ru
research scientist of the epigenetics laboratory of the Federal State Budgetary Institution «Scientific Research Center of Medical Genetics» of the RAMS Address: Moskvorechye St., 1, Moscow, 115478, tel.: (495) 622-96-35 Russian Federation

E. A. Alekseeva

Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation

Email: katrina_5@inbox.ru
research scientist of the epigenetics laboratory of the Federal State Budgetary Institution «Scientific Research Center of Medical Genetics» of the RAMS Address: Moskvorechye St., 1, Moscow, 115478, tel.: (495) 622-96-35 Russian Federation

O. A. Simonova

Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation

Email: simonova_o.a@mail.ru
research scientist of the epigenetics laboratory of the Federal State Budgetary Institution «Scientific Research Center of Medical Genetics» of the RAMS Address: Moskvorechye St., 1, Moscow, 115478, tel.: (495) 622-96-35 Russian Federation

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