Detection of „Hotspot Mutations in Catalytic Subunit of Phosphatidylinositol 3-Kinase (Pik3ca) by Allele-Specific Polymerase Chain Reaction

The phosphatidylinositol 3-kinases (PI3Ks) are a family of proteins involved in the regulation of cell survival, growth, metabolism, and glucose homeostasis. Increased PI3K activity is associated with many cancers. PIK3CA gene (encoding p110 , the catalytic subunit of PI3K) is commonly mutated in br...

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Bibliographic Details
Published in:Acta medica martiniana 2014-09, Vol.14 (2), p.10-15
Main Authors: A, Mendelova, V, Holubekova, P, Zubor, E, Jezkova, K, Gemzova, L, Plank, J, Danko, Z, Lasabova
Format: Article
Language:English
Subjects:
allele-specific PCR
Allelopathy
Catalytic oxidation
hotspots
Mutation
PI3K pathway
PIK3CA
Polymerase chain reaction
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Summary:The phosphatidylinositol 3-kinases (PI3Ks) are a family of proteins involved in the regulation of cell survival, growth, metabolism, and glucose homeostasis. Increased PI3K activity is associated with many cancers. PIK3CA gene (encoding p110 , the catalytic subunit of PI3K) is commonly mutated in breast cancer. In our study we focused on the detection of “hotspot” mutations in exons 9 and 20 of the PIK3CA gene in paraffin-embedded tissue of patients with breast cancer. We optimized conditions of allele specific polymerase chain reaction (PCR) and we used direct sequencing to verify our results. Overall, three “hotspot” mutations in PIK3CA gene in paraffin-embadded tissue from breast cancer were detected by allele-specific PCR. All results were verified by direct sequencing of PCR products and we observed 100% agreement between those two methods. We confirmed that allele-specific PCR assay is low cost method usefull for accurate detection of PIK3CA mutations.
ISSN:1335-8421
1335-8421
1338-4139
DOI:10.2478/acm-2014-0007