The frequency and spectrum of PIK3CA mutations in patients with estrogen receptor-positive HER2-negative advanced breast cancer residing in various regions of Russia
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 freque...
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IP Habib O.N.
2021
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oai:doaj.org-article:49ac17b627194a6ea7e6222ff26d5a942021-11-30T16:55:00ZThe frequency and spectrum of PIK3CA mutations in patients with estrogen receptor-positive HER2-negative advanced breast cancer residing in various regions of Russia1815-14341815-144210.26442/18151434.2021.1.200744https://doaj.org/article/49ac17b627194a6ea7e6222ff26d5a942021-05-01T00:00:00Zhttps://modernonco.orscience.ru/1815-1434/article/viewFile/70305/51240https://doaj.org/toc/1815-1434https://doaj.org/toc/1815-1442Relevance. 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.Tatiana N. SokolovaSvetlana N. AleksakhinaGrigoriy A. YanusAleksandr V. SultanbaevKonstantin V. MenshikovAnna N. LysenkoRuslan A. ZukovAlena V. ZyuzyukinaYulia N. MurunovaElena I. RossokhaSergey Y. BakharevElena A. BasovaTatiana A. KasmyninaIrina S. ShumskayaYana I. BakshunKhedi S. MusaevaAlfia I. KhasanovaVadim N. DmitrievMarina B. BolievaChristina H. GadzaovaOleg L. PetrenkoDmitriy A. MaksimovVladimir I. VladimirovViktor E. GoldbergNataliya O. PopovaMarianna V. KibishevaZaur M. KhamgokovAlexey E. VasilyevAglaya G. IyevlevaEvgeny N. ImyanitovIP Habib O.N.articlebreast cancermutationspik3caalpelisibNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282RUСовременная онкология, Vol 23, Iss 1, Pp 61-67 (2021) |
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| topic |
breast cancer mutations pik3ca alpelisib Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 |
| spellingShingle |
breast cancer mutations pik3ca alpelisib Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Tatiana N. Sokolova Svetlana N. Aleksakhina Grigoriy A. Yanus Aleksandr V. Sultanbaev Konstantin V. Menshikov Anna N. Lysenko Ruslan A. Zukov Alena V. Zyuzyukina Yulia N. Murunova Elena I. Rossokha Sergey Y. Bakharev Elena A. Basova Tatiana A. Kasmynina Irina S. Shumskaya Yana I. Bakshun Khedi S. Musaeva Alfia I. Khasanova Vadim N. Dmitriev Marina B. Bolieva Christina H. Gadzaova Oleg L. Petrenko Dmitriy A. Maksimov Vladimir I. Vladimirov Viktor E. Goldberg Nataliya O. Popova Marianna V. Kibisheva Zaur M. Khamgokov Alexey E. Vasilyev Aglaya G. Iyevleva Evgeny N. Imyanitov The frequency and spectrum of PIK3CA mutations in patients with estrogen receptor-positive HER2-negative advanced breast cancer residing in various regions of Russia |
| description |
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. |
| format |
article |
| author |
Tatiana N. Sokolova Svetlana N. Aleksakhina Grigoriy A. Yanus Aleksandr V. Sultanbaev Konstantin V. Menshikov Anna N. Lysenko Ruslan A. Zukov Alena V. Zyuzyukina Yulia N. Murunova Elena I. Rossokha Sergey Y. Bakharev Elena A. Basova Tatiana A. Kasmynina Irina S. Shumskaya Yana I. Bakshun Khedi S. Musaeva Alfia I. Khasanova Vadim N. Dmitriev Marina B. Bolieva Christina H. Gadzaova Oleg L. Petrenko Dmitriy A. Maksimov Vladimir I. Vladimirov Viktor E. Goldberg Nataliya O. Popova Marianna V. Kibisheva Zaur M. Khamgokov Alexey E. Vasilyev Aglaya G. Iyevleva Evgeny N. Imyanitov |
| author_facet |
Tatiana N. Sokolova Svetlana N. Aleksakhina Grigoriy A. Yanus Aleksandr V. Sultanbaev Konstantin V. Menshikov Anna N. Lysenko Ruslan A. Zukov Alena V. Zyuzyukina Yulia N. Murunova Elena I. Rossokha Sergey Y. Bakharev Elena A. Basova Tatiana A. Kasmynina Irina S. Shumskaya Yana I. Bakshun Khedi S. Musaeva Alfia I. Khasanova Vadim N. Dmitriev Marina B. Bolieva Christina H. Gadzaova Oleg L. Petrenko Dmitriy A. Maksimov Vladimir I. Vladimirov Viktor E. Goldberg Nataliya O. Popova Marianna V. Kibisheva Zaur M. Khamgokov Alexey E. Vasilyev Aglaya G. Iyevleva Evgeny N. Imyanitov |
| author_sort |
Tatiana N. Sokolova |
| title |
The frequency and spectrum of PIK3CA mutations in patients with estrogen receptor-positive HER2-negative advanced breast cancer residing in various regions of Russia |
| title_short |
The frequency and spectrum of PIK3CA mutations in patients with estrogen receptor-positive HER2-negative advanced breast cancer residing in various regions of Russia |
| title_full |
The frequency and spectrum of PIK3CA mutations in patients with estrogen receptor-positive HER2-negative advanced breast cancer residing in various regions of Russia |
| title_fullStr |
The frequency and spectrum of PIK3CA mutations in patients with estrogen receptor-positive HER2-negative advanced breast cancer residing in various regions of Russia |
| title_full_unstemmed |
The frequency and spectrum of PIK3CA mutations in patients with estrogen receptor-positive HER2-negative advanced breast cancer residing in various regions of Russia |
| title_sort |
frequency and spectrum of pik3ca mutations in patients with estrogen receptor-positive her2-negative advanced breast cancer residing in various regions of russia |
| publisher |
IP Habib O.N. |
| publishDate |
2021 |
| url |
https://doaj.org/article/49ac17b627194a6ea7e6222ff26d5a94 |
| work_keys_str_mv |
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