KEY TAKEAWAYS
- The study aimed to develop a PCR assay for detecting PIK3CA H1047R in patients with BC.
- The results showed the novel PCR assay detected PIK3CA H1047R more frequently in advanced BC cases.
The PIK3CA gene, frequently mutated in various cancers, plays a crucial role in cell growth and proliferation. Detecting the PIK3CA H1047R mutation in blood holds immense potential for non-invasive breast cancer (BC) diagnosis and monitoring.
Dinh Thi Thao and the team aimed to establish a highly sensitive and specific PCR assay for detecting the PIK3CA H1047R mutation in the blood of patients with breast cancer and to investigate its association with clinical features.
The study designed an allele-specific PCR assay with a specialized blocker to ensure specific amplification of the H1047R mutant variant. The assay’s sensitivity was rigorously tested. The developed technique was then applied to cell-free DNA samples collected from 196 patients with BC. Researchers then analyzed the association between the detected mutation and various clinical parameters.
The optimized allele-specific PCR assay exhibited remarkable sensitivity, detecting the H1047R mutant variant at concentrations as low as 0.01%. Using this assay, the study found the H1047R mutation in 62 patients (31.6%). The detection rates increased with disease stage: 11.1% in stage I, 23.9% in stage II, 37.7% in stage III, and 42.6% in stage IV (P= 0.025). Notably, the H1047R mutation was more frequent in patients with late-stage (P= 0.033), recurrent (P= 0.045), or metastatic disease (P= 0.049), and in those who received radiation therapy for HER2-positive breast cancer (P= 0.004).
This study successfully established a highly sensitive and specific allele-specific PCR assay for detecting the PIK3CA H1047R mutation in clinical settings. The findings suggested a strong association between this mutation and advanced BC stages and other clinical characteristics.
This study was financially supported by the VIN group Innovation Foundation (VINIF) under the grant number VINIF.2021.TS.161, and the National Foundation for Science and Technology Development (NAFOSTED) under the grant number 108.06-2020.10.
Source: https://pubmed.ncbi.nlm.nih.gov/39197004/
Thao DT, Thanh NP, Quyen DV, et al. (2024). “Identification of breast cancer-associated PIK3CA H1047R mutation in blood circulation using an asymmetric PCR assay.” PLoS One. 2024;19(8):e0309209. Published 2024 Aug 28. doi:10.1371/journal.pone.0309209
