Open AccessThe frequency and spectrum of PIK3CA mutations in patients with estrogen receptor-positive HER2-negative advanced breast cancer residing in various regions of Russia
Author(s) -
Татяна Соколова,
Соколова Татьяна Николаевна,
Svetla. Aleksakhina,
Алексахина Светлана Николаевна,
Grigoriy A. Yanus,
Янус Григорий Аркадьевич,
А. V. Sultanbaev,
Султанбаев Александр Валерьевич,
К. V. Menshikov,
Меньшиков Константин Викторович,
An. Lysenko,
Лысенко Анна Николаевна,
Ruslan Zukov,
Зуков Руслан Александрович,
Alena V. Zyuzyukina,
Alena V. Zyuzyukina,
Yulia N. Murunova,
Мурунова Юлия Николаевна,
Elena I. Rossokha,
Россоха Елена Ивановна,
S. Yu. Bakharev,
Бахарев Сергей Юрьевич,
Elena Basova,
Басова Елена Анатольевна,
Tatiana A. Kasmynina,
Касмынина Татьяна Александровна,
Irina S. Shumskaya,
Шумская Ирина Сергеевна,
Yana I. Bakshun,
Бакшун Яна Игоревна,
Khedi S. Musaeva,
Мусаева Хеди Салмановна,
А. И. Хасанова,
Хасанова Альфия Ирековна,
В. Н. Дмитриев,
Дмитриев Вадим Николаевич,
Marina B. Bolieva,
Болиева Марина Борисовна,
Christina H. Gadzaova,
Гадзаова Кристина Хасановна,
Oleg L. Petrenko,
Петренко Олег Леонидович,
D. A. Maksimov,
Максимов Дмитрий Анатольевич,
Vladimir I. Vladimirov,
Владимиров Владимир Иванович,
V. Е. Goldberg,
Гольдберг Виктор Евгеньевич,
Н. О. Попова,
Попова Наталия Олеговна,
Marianna V. Kibisheva,
Кибишева Марианна Владимировна,
Zaur M. Khamgokov,
Хамгоков Заур Магометович,
Alexey E. Vasilyev,
Васильев Алексей Евгеньевич,
Aglaya G. Iyevleva,
Иевлева Аглая Геннадиевна,
Evgeny N. Imyanitov,
Имянитов Евгений Наумович
Publication year - 2021
Publication title -
sovremennaâ onkologiâ
Language(s) - English
Resource type - Journals
eISSN - 1815-1442
pISSN - 1815-1434
DOI - 10.26442/18151434.2021.1.200744
Subject(s) - breast cancer , digital polymerase chain reaction , oncology , medicine , population , estrogen receptor , allele frequency , cohort , cancer , allele , cancer research , gene , biology , genetics , polymerase chain reaction , environmental health
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.