The frequency and spectrum of PIK3CA mutations in patients with estrogen receptor-positive HER2-negative advanced breast cancer residing in various regions of Russia
- Authors: Sokolova T.N.1, Aleksakhina S.N.1, Yanus G.A.1,2, Sultanbaev A.V.3, Menshikov K.V.3, Lysenko A.N.4, Zukov R.A.5, Zyuzyukina A.V.5, Murunova Y.N.6, Rossokha E.I.7, Bakharev S.Y.7, Basova E.A.8, Kasmynina T.A.8, Shumskaya I.S.9, Bakshun Y.I.10, Musaeva K.S.11, Khasanova A.I.12,13, Dmitriev V.N.14, Bolieva M.B.11, Gadzaova C.H.11, Petrenko O.L.15, Maksimov D.A.16, Vladimirov V.I.17, Goldberg V.E.18, Popova N.O.18, Kibisheva M.V.8, Khamgokov Z.M.8, Vasilyev A.E.19, Iyevleva A.G.1,2, Imyanitov E.N.1,2
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Affiliations:
- Petrov Institute of Oncology
- Saint Petersburg State Pediatric Medical University
- Republican Clinical Oncological Dispensary
- Regional Oncology Dispensary
- Voino-Yasenetsky Krasnoyarsk State Medical University
- Surgut Regional Hospital
- Altai Regional Oncological Dispensary
- Oncology Dispensary
- Nizhny Novgorod Regional Clinical Oncological Dispensary
- Cancer Hospital
- Republican Oncology Dispensary
- Sigal Republic Clinical Oncology Dispensary
- Kazan Federal University
- Belgorod Oncology Dispensary
- Kaliningrad Regional Clinical Hospital
- Tver Regional Clinical Oncology Dispensary
- Pyatigorsk Oncology Dispensary
- Tomsk National Research Medical Center
- Orenburg Regional Clinical Oncological Dispensary
- Issue: Vol 23, No 1 (2021)
- Pages: 61-67
- Section: CLINICAL ONCOLOGY
- URL: https://journals.rcsi.science/1815-1434/article/view/70305
- DOI: https://doi.org/10.26442/18151434.2021.1.200744
- ID: 70305
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Abstract
Relevance. PIK3CA belongs to the top three most frequently mutated genes in breast cancer (BC), especially in estrogen receptor (ER) positive, HER2 negative BC subtype. With an approval of selective PI3K-alpha inhibitor, alpelisib, this alteration has become actionable in ER+HER2- tumors. The frequency and spectrum of PIK3CA alterations in various cohorts is affected by a number of factors, including the distribution of BC expression subtypes, histological types, patient age, and even ethnicity.
Aim. Aim of the current study was to characterize the frequency and spectrum of PIK3CA alterations in Russian BC patients.
Materials and methods. The analysis of PIK3CA exon 7, 9 and 20 mutations was performed in a cohort of Russian ER+HER2- BC patients by a combination of high-resolution melting analysis, allele-specific PCR, and digital droplet PCR.
Results. PIK3CA lesions were identified in 62/206 (30%) patients. Noteworthy, 59/62 (95%) of the identified variants were represented by the three most common p.E542K, p.E545K, and p.H1047R substitutions. The analysis of clinical and morphological characteristics revealed the trends towards association of PIK3CA mutations with older age and more frequent metastatic lung involvement.
Conclusion. The obtained data on the frequency and spectrum of PIK3CA somatic aberrations can be helpful when organizing molecular genetic testing of breast cancer patients and using PI3K inhibitors in Russian population.
Keywords
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##article.viewOnOriginalSite##About the authors
Tatiana N. Sokolova
Petrov Institute of Oncology
Author for correspondence.
Email: stretanya@yandex.ru
ORCID iD: 0000-0002-0537-7478
Research Assistant
Russian Federation, Saint PetersburgSvetlana N. Aleksakhina
Petrov Institute of Oncology
Email: abyshevasv@gmail.com
ORCID iD: 0000-0002-2149-7728
Cand. Sci. (Biol.)
Russian Federation, Saint PetersburgGrigoriy A. Yanus
Petrov Institute of Oncology; Saint Petersburg State Pediatric Medical University
Email: octavedoctor@yandex.ru
ORCID iD: 0000-0002-9844-4536
Cand. Sci. (Med.)
Russian Federation, Saint Petersburg; Saint PetersburgAleksandr V. Sultanbaev
Republican Clinical Oncological Dispensary
Email: rkodrb@yandex.ru
ORCID iD: 0000-0003-0996-5995
Cand. Sci. (Med.)
Russian Federation, UfaKonstantin V. Menshikov
Republican Clinical Oncological Dispensary
Email: kmenshikov80@bk.ru
ORCID iD: 0000-0003-3734-2779
Cand. Sci. (Med.)
Russian Federation, UfaAnna N. Lysenko
Regional Oncology Dispensary
Email: anyutadoctor@yandex.ru
oncologist
Russian Federation, StavropolRuslan A. Zukov
Voino-Yasenetsky Krasnoyarsk State Medical University
Email: zukov_rus@mail.ru
ORCID iD: 0000-0002-7210-3020
D. Sci. (Med.), Prof.
Russian Federation, KrasnoyarskAlena V. Zyuzyukina
Voino-Yasenetsky Krasnoyarsk State Medical University
Email: alena-vz@mail.ru
ORCID iD: 0000-0002-6758-4800
Cand. Sci. (Med.)
Russian Federation, KrasnoyarskYulia N. Murunova
Surgut Regional Hospital
Email: murunovayn@surgutokb.ru
ORCID iD: 0000-0003-0299-980X
Cand. Sci. (Med.)
Russian Federation, SurgutElena I. Rossokha
Altai Regional Oncological Dispensary
Email: rossokha_e@mail.ru
ORCID iD: 0000-0002-5303-3012
Cand. Sci. (Med.)
Russian Federation, BarnaulSergey Y. Bakharev
Altai Regional Oncological Dispensary
Email: bachero@mail.ru
ORCID iD: 0000-0003-0429-8804
Head of the Department of Pathological Anatomy
Russian Federation, BarnaulElena A. Basova
Oncology Dispensary
Email: basova_elena68@mail.ru
chief physician
Russian Federation, BirobidzhanTatiana A. Kasmynina
Oncology Dispensary
Email: stretanya@yandex.ru
oncologist
Russian Federation, BirobidzhanIrina S. Shumskaya
Nizhny Novgorod Regional Clinical Oncological Dispensary
Email: medicanns@mail.ru
Cand. Sci. (Med.)
Russian Federation, Nizhny NovgorodYana I. Bakshun
Cancer Hospital
Email: mikobacteria@gmail.com
ORCID iD: 0000-0001-8584-6299
oncologist
Russian Federation, KostromaKhedi S. Musaeva
Republican Oncology Dispensary
Email: musaeva.onco@mail.ru
oncologist
Russian Federation, GrozniyAlfia I. Khasanova
Sigal Republic Clinical Oncology Dispensary; Kazan Federal University
Email: haalfy@mail.ru
ORCID iD: 0000-0002-4880-4353
Cand. Sci. (Med.)
Russian Federation, Kazan; KazanVadim N. Dmitriev
Belgorod Oncology Dispensary
Email: vadd@mail.ru
D. Sci. (Med.)
Russian Federation, BelgorodMarina B. Bolieva
Republican Oncology Dispensary
Email: marina-bolieva1985@mail.ru
oncologist
Russian Federation, VladikavkazChristina H. Gadzaova
Republican Oncology Dispensary
Email: lady.onko@yandex.ru
oncologist
Russian Federation, VladikavkazOleg L. Petrenko
Kaliningrad Regional Clinical Hospital
Email: Petrenko-oleg78@mail.ru
ORCID iD: 0000-0002-6482-1698
Cand. Sci. (Med.)
Russian Federation, KaliningradDmitriy A. Maksimov
Tver Regional Clinical Oncology Dispensary
Email: dr.maksimovda@mail.ru
oncologist, Head of the Surgical Department
Russian Federation, TverVladimir I. Vladimirov
Pyatigorsk Oncology Dispensary
Email: vladvlad@megalog.ru
ORCID iD: 0000-0002-7375-8950
D. Sci. (Med.)
Russian Federation, PyatigorskViktor E. Goldberg
Tomsk National Research Medical Center
Email: goldbergve@mail.ru
ORCID iD: 0000-0003-4753-5283
D. Sci. (Med.), Prof.
Russian Federation, TomskNataliya O. Popova
Tomsk National Research Medical Center
Email: popova75tomsk@mail.ru
ORCID iD: 0000-0001-5294-778X
Cand. Sci. (Med.)
Russian Federation, TomskMarianna V. Kibisheva
Oncology Dispensary
Email: zareta.alix@yandex.ru
oncologist
Russian Federation, NalchikZaur M. Khamgokov
Oncology Dispensary
Email: zaur0779@inbox.ru
oncologist
Russian Federation, NalchikAlexey E. Vasilyev
Orenburg Regional Clinical Oncological Dispensary
Email: vasiliev@rambler.ru
ORCID iD: 0000-0003-0385-6798
oncologist
Russian Federation, OrenburgAglaya G. Iyevleva
Petrov Institute of Oncology; Saint Petersburg State Pediatric Medical University
Email: aglayai@inbox.ru
ORCID iD: 0000-0001-5454-5186
Cand. Sci. (Med.)
Russian Federation, Saint Petersburg; Saint PetersburgEvgeny N. Imyanitov
Petrov Institute of Oncology; Saint Petersburg State Pediatric Medical University
Email: evgeny@imyanitov.spb.ru
ORCID iD: 0000-0003-4529-7891
D. Sci. (Med.), Prof., Corr. Memb. RAS
Russian Federation, Saint Petersburg; Saint PetersburgReferences
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