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Investigation of somatic PIK3CA gene mutations in breast cancer patients
Alina M.Pevzner1, Ksenia A.Gaptulbarova, Matvey M.Tsyganov
1Cancer Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences; 5, Tomsk, Russian Federation.
Purpose:
Mutations of the PI3K/AKT/mTOR signaling pathway occur in 70% of all breast cancers and represent a clinically useful marker for disease prognosis and patient management. The purpose of this work was to study the main somatic PIK3CA gene mutations in breast cancer patients and the search for a relationship with the main clinical and pathological characteristics and the effect of neoadjuvant chemotherapy (NAC).
Methods:
The study involved 29 patients with luminal B breast cancer. DNA was isolated from samples of tumor tissue before and after treatment using the QIAamp DNA mini Kit (Qiagen, Germany). Samples were prepared for sequencing by amplification with primers containing TruSeq index and adapter sequences (Illumina, USA) using Encyclo polymerase.
Results:
We found 5 different somatic changes in 28% of patients: c.3140A> G (p.His1047Arg), c.3140A> T (p.His1047Leu), c.1624G> A (p.Glu542Lys), c.1633G> A ( p.Glu545Lys), c.3145G> C (p.Gly1049Arg). In the group of patients with mutations, 50% showed PIK3CA gene amplifications. The c.3140A> T (p.His1047Leu) mutation was associated with low disease-free survival rates. PIK3CA gene mutations were observed in 38% of patients with HER2-subtype, and metastasis-free survival rates were, on average, 1.5 times higher than in patients with normal gene status.
Insights
Specific PIK3CA gene mutations were identified in 28% of breast cancer patients. Certain mutations, like c.3140A>T, correlated with poorer survival, while others showed potential links to improved outcomes in HER2-subtype cancers.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- The PI3K/AKT/mTOR pathway is frequently altered in breast cancer (70%).
- PIK3CA mutations are clinically significant biomarkers for prognosis and treatment decisions.
Purpose of the Study:
- To investigate common somatic PIK3CA gene mutations in breast cancer patients.
- To correlate these mutations with clinical-pathological features and response to neoadjuvant chemotherapy (NAC).
Main Methods:
- DNA sequencing of tumor tissue from 29 luminal B breast cancer patients.
- Analysis of somatic mutations including amplifications before and after NAC.
Main Results:
- Five distinct somatic PIK3CA mutations were found in 28% of patients.
- The c.3140A>T (p.His1047Leu) mutation was linked to reduced disease-free survival.
- PIK3CA mutations in HER2-subtype patients (38%) were associated with 1.5-fold higher metastasis-free survival.
Conclusions:
- Somatic PIK3CA mutations are prevalent in breast cancer and have prognostic implications.
- Specific mutations may influence patient outcomes and response to therapy, warranting further investigation.
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