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Romanova M.E.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Grinevich V.N.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Volchenko N.N.

P.A. Herzen Moscow Oncology Research Institute — Branch of the National Medical Radiology Research Center of the Ministry of Health of Russia

Prokopenko S.P.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Kudryavtseva A.V.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Shatalov P.A.

National Medical Radiology Research Center of the Ministry of Health of Russia

Shinkarkina A.P.

A.F. Tsyb Medical Radiology Research Center — National Medical Radiology Research Center of the Ministry of Health of Russia

Raigorodskaya M.P.

N.A. Lopatkin Research Institute of Urology and Interventional Radiology — National Medical Radiology Research Center of the Ministry of Health of Russia

Nikiforovich P.A.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Surkova V.S.

P.A. Herzen Moscow Oncology Research Institute — Branch of the National Medical Radiology Research Center of the Ministry of Health of Russia

Kokosadze N.V.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Sentsova E.Yu.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Fedorova M.S.

V.A. Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences

Mamedov I.Z.

Institute of Bioorganic Chemistry Academicians M.M. Shemyakina and Yu.A. Ovchinnikov Russian Academy of Sciences

Alekseev B.Ya.

P.A. Herzen Moscow Oncology Research Institute — Branch of the National Medical Radiology Research Center of the Ministry of Health of Russia;
Medical Institute of Continuing Education «Moscow State University of Food Processing Facilities»

Shegai P.V.

National Medical Radiology Research Center of the Ministry of Health of Russia

Poloznikov A.A.

National Medical Radiology Research Center of the Ministry of Health of Russia

Kaprin A.D.

P.A. Herzen Moscow Oncology Research Institute — Branch of the National Medical Radiology Research Center of Ministry of Russia;
Peoples’ Friendship University of Russia

Estimation of the incidence of molecular disorders in the tumor cells in breast malignant neoplasms by high-throughput sequencing

Authors:

Romanova M.E., Grinevich V.N., Volchenko N.N., Prokopenko S.P., Kudryavtseva A.V., Shatalov P.A., Shinkarkina A.P., Raigorodskaya M.P., Nikiforovich P.A., Surkova V.S., Kokosadze N.V., Sentsova E.Yu., Fedorova M.S., Mamedov I.Z., Alekseev B.Ya., Shegai P.V., Poloznikov A.A., Kaprin A.D.

More about the authors

Journal: P.A. Herzen Journal of Oncology. 2021;10(4): 23‑29

DOI: 10.17116/onkolog20211004123

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Downloaded: 31

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Table of contents

ESTIMATION OF THE INCIDENCE OF MOLECULAR DISORDERS IN THE TUMOR CELLS IN BREAST MALIGNANT NEOPLASMS BY HIGH-THROUGHPUT SEQUENCING
ESTIMATION OF THE INCIDENCE OF MOLECULAR DISORDERS IN THE TUMOR CELLS IN BREAST MALIGNANT NEOPLASMS BY HIGH-THROUGHPUT SEQUENCING

To cite this article:

Romanova ME, Grinevich VN, Volchenko NN, et al. . Estimation of the incidence of molecular disorders in the tumor cells in breast malignant neoplasms by high-throughput sequencing. P.A. Herzen Journal of Oncology. 2021;10(4):23‑29. (In Russ.)
https://doi.org/10.17116/onkolog20211004123

Подписка 2025-2 (P.A. Herzen Journal of Oncology)
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OBJECTIVE

To estimate the incidence of molecular disorders in the tumor samples of patients with locally advanced and metastatic breast cancer (BC) by high-throughput sequencing (HTS), followed by the assessment of whether the study results can be used to choose treatment policy for individual patients.

MATERIAL AND METHODS

HTS was used to conduct a molecular genetic study of 76 BC tissue samples, by applying the AVENIO Tumor Tissue Expanded Panel Kit (Roche, USA), that included 77 genes associated with the development of malignant neoplasms.

RESULTS

This study identified the most common pathogenic mutations in the TP53, PIK3CA, AKT1, and MET genes in BC, as well as molecular genetic disorders in various genes (BRCA2, PTCH1, ROS1, KIT, PDGFRA, GATA3, APC, PTEN, AR, PDCD1LG2, NTRK1, FLT3, EGFR, FLT1, MSH2, KRAS, RB1, EGFR amplification, PMS2, and CSF1R), which occurred in 1—4% of cases. It should be noted separately that the 2020 clinical guidelines for the diagnosis and treatment of BC in patients with hormone-dependent HER2 BC recommend that PIK3CA gene mutations should be studied to decide whether targeted therapy is given. Our study determined that the frequency of pathogenic mutations in the PIK3CA gene in this patient group was 38.2%. The frequency of mutations in this gene in other (hormone-independent, HER2-positive) subgroups was also quite high (33.3%), which allows one to recommend that PIK3CA gene mutations should be determined for other subtypes of BC.

CONCLUSION

HTS used to examine patients with BC will be able to improve the algorithm for the molecular diagnosis of the disease, to increase the informative value of study results, by obtaining complete information on the studied genes, to reduce the time of diagnosis through a cross-sectional study of several genes at once, to enhance the efficiency of therapy, owing to the timely and accurate identification of genetic markers that are critical to prescribe targeted therapy.

Keywords:

high-throughput sequencing
breast cancer
mutations

Authors:

Romanova M.E.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Grinevich V.N.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Volchenko N.N.

P.A. Herzen Moscow Oncology Research Institute — Branch of the National Medical Radiology Research Center of the Ministry of Health of Russia

Prokopenko S.P.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Kudryavtseva A.V.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Shatalov P.A.

National Medical Radiology Research Center of the Ministry of Health of Russia

Shinkarkina A.P.

A.F. Tsyb Medical Radiology Research Center — National Medical Radiology Research Center of the Ministry of Health of Russia

Raigorodskaya M.P.

N.A. Lopatkin Research Institute of Urology and Interventional Radiology — National Medical Radiology Research Center of the Ministry of Health of Russia

Nikiforovich P.A.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Surkova V.S.

P.A. Herzen Moscow Oncology Research Institute — Branch of the National Medical Radiology Research Center of the Ministry of Health of Russia

Kokosadze N.V.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Sentsova E.Yu.

P.A. Herzen Moscow Oncology Research Institute — Branch of National Medical Radiology Research Center of the Ministry of Health of Russia

Fedorova M.S.

V.A. Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences

Mamedov I.Z.

Institute of Bioorganic Chemistry Academicians M.M. Shemyakina and Yu.A. Ovchinnikov Russian Academy of Sciences

Alekseev B.Ya.

P.A. Herzen Moscow Oncology Research Institute — Branch of the National Medical Radiology Research Center of the Ministry of Health of Russia;
Medical Institute of Continuing Education «Moscow State University of Food Processing Facilities»

Shegai P.V.

National Medical Radiology Research Center of the Ministry of Health of Russia

Poloznikov A.A.

National Medical Radiology Research Center of the Ministry of Health of Russia

Kaprin A.D.

P.A. Herzen Moscow Oncology Research Institute — Branch of the National Medical Radiology Research Center of Ministry of Russia;
Peoples’ Friendship University of Russia

Received:

24.05.2021

Accepted:

02.06.2021

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