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The frequency and spectrum of PIK3CA mutations in patients with estrogen receptor-positive HER2-negative advanced breast cancer residing in various regions of Russia

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dc.contributor.author Sokolova T.N.
dc.contributor.author Aleksakhina S.N.
dc.contributor.author Yanus G.A.
dc.contributor.author Sultanbaev A.V.
dc.contributor.author Menshikov K.V.
dc.contributor.author Lysenko A.N.
dc.contributor.author Zukov R.A.
dc.contributor.author Zyuzyukina A.V.
dc.contributor.author Murunova Y.N.
dc.contributor.author Rossokha E.I.
dc.contributor.author Bakharev S.Y.
dc.contributor.author Basova E.A.
dc.contributor.author Kasmynina T.A.
dc.contributor.author Shumskaya I.S.
dc.contributor.author Bakshun Y.I.
dc.contributor.author Musaeva K.S.
dc.contributor.author Khasanova A.I.
dc.contributor.author Dmitriev V.N.
dc.contributor.author Bolieva M.B.
dc.contributor.author Gadzaova C.H.
dc.contributor.author Petrenko O.L.
dc.contributor.author Maksimov D.A.
dc.contributor.author Vladimirov V.I.
dc.contributor.author Goldberg V.E.
dc.contributor.author Popova N.O.
dc.contributor.author Kibisheva M.V.
dc.contributor.author Khamgokov Z.M.
dc.contributor.author Vasilyev A.E.
dc.contributor.author Iyevleva A.G.
dc.contributor.author Imyanitov E.N.
dc.date.accessioned 2022-02-09T20:42:04Z
dc.date.available 2022-02-09T20:42:04Z
dc.date.issued 2021
dc.identifier.issn 1815-1434
dc.identifier.uri https://dspace.kpfu.ru/xmlui/handle/net/169680
dc.description.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.
dc.relation.ispartofseries Journal of Modern Oncology
dc.subject Alpelisib
dc.subject Breast cancer
dc.subject Mutations
dc.subject PIK3CA
dc.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
dc.type Article
dc.relation.ispartofseries-issue 1
dc.relation.ispartofseries-volume 23
dc.collection Публикации сотрудников КФУ
dc.relation.startpage 61
dc.source.id SCOPUS18151434-2021-23-1-SID85108289363


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    Коллекция содержит публикации сотрудников Казанского федерального (до 2010 года Казанского государственного) университета, проиндексированные в БД Scopus, начиная с 1970г.

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