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Title: Frequency and mutational spectrum of PIK3CA gene mutations in breast cancer patients: Largest and first report from Lebanon
Authors: Hamadeh, Lama N
Farhat, Lama
Hilal, Lamia
Assi, Hazem
Nasr, Fadi
Chahine, Georges
Kattan, Joseph
Farhat, Fadi
Kourie, Hampig
El Hachem, Georges
Ghosn, Marwan
El Saghir, Nagi
Chamseddine, Nabil
Finianos, Antoine
Ghanem, Hady
Younes, Ahmad
Gerges, Dany Abi
Temraz, Sally
Haidar, Mohammad
Nabhan, Therese
Chamseddine, Ali
Tfayli, Arafat
Zaatari, Ghazi
Mahfouz, Rami
Affiliations: Faculty of Medicine 
Keywords: Breast cancer
Mutation screening
Issue Date: 2023-06-30
Publisher: Elsevier
Part of: Gene
Volume: 871
The PIK3CA pathway is one of the most frequently altered pathways in human cancers, especially in breast cancer with approximately 40% of HR+/HER2- advanced breast cancer cases exhibiting mutations in the PIK3CA gene. While the mutations can occur across the entire gene, the most common are observed in exon 9 corresponding to the helical domain, and in exon 20 encompassing the kinase domain. This study constitutes the first attempt at determining the frequency and mutational spectrum in Lebanese breast cancer patients. For this purpose, DNA samples from 280 breast cancer patients from across Lebanon were screened for PIK3CA mutations using the Therascreen® PIK3CA RGQ Real-time PCR assay. In line with previous reports, 38.57% of cases were positive for at least one PIK3CA mutation, among which approximately 59% were in exon 9 and 37% in exon 20. However, PIK3CA mutations are breast cancer are heterogeneous whereby 20% of known PIK3CA mutants might not be detected by compact PCR based assays. Thus, the adoption of comprehensive Next Generation Sequencing based panels to decipher the complete clinical, molecular and immunohistochemical profile of breast cancer tumor requires further investigation.
ISSN: 03781119
DOI: 10.1016/j.gene.2023.147433
Ezproxy URL: Link to full text
Type: Journal Article
Appears in Collections:Faculty of Medicine

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