Abstract
PTEN gene mutations in malignant tumours – a systematic review and clinical implications for tumour treatment
- Collegium Medicum, Jan Kochanowski University, Kielce, Poland Head of the Collegium: Prof. Marianna Janion MD PhD
- Kielce Province Cancer Centre, Kielce, Poland Head of the Centre: Prof. Stanisław Góźdż MD, PhD
- Institute of Physics, Jan Kochanowski University, Kielce, Poland Head of the Institute: Prof. Marek Pajek
Introduction
The PTEN (phosphatase and tensin homologue deleted on chromosome 10) gene is one of the most commonly mutated suppressor genes in malignant tumours. PTEN protein counteracts the process of carcinogenesis by inhibition of many kinases promoting cell proliferation.
Aim of the research
A review and analysis of detected PTEN gene mutations in malignant tumours and identification of the most commonly mutated sites in the PTEN gene.
Material and methods
The systematic review included 70 publications.
Results
Mutations in the PTEN gene were found in 18% of cases. The largest number of mutations were observed in endometrial cancer – 49% of examined patients. Mutations most frequently occurred in exon 5 (49% of examined cases), followed by exon 8 (15% of cases) and exon 7 (13% of cases).
Conclusions
The identification of mutations in the PTEN gene in malignant tumours is of great clinical importance – targeted treatment with temsirolimus and everolimus is available for patients.
Keywords
carcinogenesis, PTEN mutation, MMAC-1 mutation, TEP-1 mutation, cancer genetics
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