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Shatalov P.A.

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

Veselovsky E.M.

National Medical Research Radiological Center

Traspov A.A.

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

Kirillova E.A.

National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation

Revkova M.A.

National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation

Bagdasarova D.V.

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

Leukhina I.A.

National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation

Shinkarkina A.P.

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

Raygorodskaya M.P.

National Medical Research Radiological Center

Murzaeva A.V.

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

Mechenici Yu.A.

National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation

Mishakova P.V.

National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation

Kaprin A.D.

National Medical Research Radiology Centre;
People’s Friendship University of Russia

Shegai P.V.

National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation;
Patrice Lumumba Peoples Friendship University of Russia

Prevalence of clinically significant PIK3CA mutations: results of tumor sample analysis from 1452 patients in a Russian cohort

Authors:

Shatalov P.A., Veselovsky E.M., Traspov A.A., Kirillova E.A., Revkova M.A., Bagdasarova D.V., Leukhina I.A., Shinkarkina A.P., Raygorodskaya M.P., Murzaeva A.V., Mechenici Yu.A., Mishakova P.V., Kaprin A.D., Shegai P.V.

More about the authors

Journal: P.A. Herzen Journal of Oncology. 2025;14(6): 32‑38

DOI: 10.17116/onkolog20251406132

Read: 1243 times

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Table of contents

PREVALENCE OF CLINICALLY SIGNIFICANT PIK3CA MUTATIONS: RESULTS OF TUMOR SAMPLE ANALYSIS FROM 1452 PATIENTS IN A RUSSIAN COHORT
PREVALENCE OF CLINICALLY SIGNIFICANT PIK3CA MUTATIONS: RESULTS OF TUMOR SAMPLE ANALYSIS FROM 1452 PATIENTS IN A RUSSIAN COHORT

To cite this article:

Shatalov PA, Veselovsky EM, Traspov AA, et al. Prevalence of clinically significant PIK3CA mutations: results of tumor sample analysis from 1452 patients in a Russian cohort. P.A. Herzen Journal of Oncology. 2025;14(6):32‑38. (In Russ.)
https://doi.org/10.17116/onkolog20251406132

Подписка 2026 Онкология. Журнал им. П.А. Герцена (P.A. Herzen Journal of Oncology)
МСФ на ЯМ
Использование инфографики авторами научных работ
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Abstract:

PIK3CA mutations represent one of the most frequent driver events in malignant neoplasms, particularly in hormone-dependent breast cancer. Activation of the PI3K/AKT/mTOR pathway promotes tumor growth, drug resistance, and poor prognosis.

OBJECTIVE

To assess the frequency and spectrum of clinically significant mutations in the PIK3CA gene in various types of malignant neoplasms in patients from a Russian cohort.

MATERIAL AND METHODS

The study included sequencing data from 1.556 tumor samples (1.452 patients) that underwent molecular genetic testing at the National Medical Research Radiology Center of the Ministry of Health of the Russian Federation between 2022 and 2025. Targeted panels and whole-exome sequencing with a coverage depth of 200—1000× were used. Analysis was performed according to GATK Best Practices; annotation was conducted using VEP and OpenCaravat; statistical analysis was carried out in Python.

RESULTS

PIK3CA mutations were identified in 12.1% of all samples, with a frequency of 26.8% in breast cancer and 5.1% in other tumor types (p<10–6). The most common variants were H1047R (29%), E545K (19.9%), and E542K (9.9%). Co-mutations were most frequently observed with TP53 (38.8%) and less often with KRAS and PTEN.

CONCLUSION

The PIK3CA mutation spectrum in the Russian cohort generally corresponds to global data and confirms the significance of the PI3K/AKT/mTOR pathway as a key target for precision therapy, especially in hormone-dependent tumors.

Keywords:

PIK3CA
breast cancer
PI3K/AKT/mTOR
NGS
mutational profiling

Authors:

Shatalov P.A.

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

Veselovsky E.M.

National Medical Research Radiological Center

Traspov A.A.

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

Kirillova E.A.

National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation

Revkova M.A.

National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation

Bagdasarova D.V.

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

Leukhina I.A.

National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation

Shinkarkina A.P.

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

Raygorodskaya M.P.

National Medical Research Radiological Center

Murzaeva A.V.

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

Mechenici Yu.A.

National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation

Mishakova P.V.

National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation

Kaprin A.D.

National Medical Research Radiology Centre;
People’s Friendship University of Russia

Shegai P.V.

National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation;
Patrice Lumumba Peoples Friendship University of Russia

Received:

16.10.2025

Accepted:

24.10.2025

Close metadata

References:

  1. Martínez-Sáez O, Chic N, Pascual T, Adamo B, Vidal M, González-Farré B, et al. Frequency and spectrum of PIK3CA somatic mutations in breast cancer. Breast Cancer Res. 2020;22:45.  https://doi.org/10.1186/s13058-020-01284-9
  2. Leontiadou H, Galdadas I, Athanasiou C, Cournia Z. Insights into the mechanism of the PIK3CA E545K activating mutation using MD simulations. Sci Rep. 2018;8:15544. https://doi.org/10.1038/s41598-018-27044-6
  3. Gkeka P, Evangelidis T, Pavlaki M, Lazani V, Christoforidis S, Agianian B, et al. Investigating the Structure and Dynamics of the PIK3CA Wild-Type and H1047R Oncogenic Mutant. PLoS Comput Biol. 2014;10:e1003895. https://doi.org/10.1371/journal.pcbi.1003895
  4. Schagerholm C, Robertson S, Toosi H, Sifakis EG, Hartman J. PIK3CA mutations in endocrine-resistant breast cancer. Sci Rep. 2024;14:12542. https://doi.org/10.1038/s41598-024-62664-1
  5. André F, Ciruelos E, Rubovszky G, Campone M, Loibl S, Rugo HS, et al. Alpelisib for PIK3CA-Mutated, Hormone Receptor-Positive Advanced Breast Cancer. N Engl J Med. 2019;380:1929-1940. https://doi.org/10.1056/NEJMoa1813904
  6. Turner NC, Oliveira M, Howell SJ, Dalenc F, Cortes J, Gomez Moreno HL, et al. Capivasertib in Hormone Receptor-Positive Advanced Breast Cancer. N Engl J Med. 2023;388:2058-2070. https://doi.org/10.1056/NEJMoa2214131
  7. Turner NC, Im S-A, Saura C, Juric D, Loibl S, Kalinsky K, et al. Inavolisib-Based Therapy in PIK3CA-Mutated Advanced Breast Cancer. N Engl J Med. 2024;391:1584-1596. https://doi.org/10.1056/NEJMoa2404625
  8. Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, et al. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer. The Journal of Molecular Diagnostics. 2017;19:4-23.  https://doi.org/10.1016/j.jmoldx.2016.10.002
  9. Zehir A, Benayed R, Shah RH, Syed A, Middha S, Kim HR, et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nat Med. 2017;23:703-713.  https://doi.org/10.1038/nm.4333
  10. Son H, Kang H, Kim HS, Kim S. Somatic mutation driven codon transition bias in human cancer. Sci Rep. 2017;7:14204. https://doi.org/10.1038/s41598-017-14543-1
  11. Cerami E, Gao J, Dogrusoz U, Gross BE, Sumer SO, Aksoy BA, Jacobsen A, Byrne CJ, Heuer ML, Larsson E, et al. The cbio cancer genomics portal: An open platform for exploring multidimensional cancer genomics data. Cancer Discovery. 2012;2(5):401-404.  https://doi.org/10.1158/2159-8290.CD-12-0095
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