Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients

The presence of activating somatic mutations in codons 542 and 545 of exon 9 ( p.E542K c.1624G>A and p.E545K c.1633G>A ) and in codon 1047 of exon 20 ( p.H1047R c.3140A>G and p.H1047L c.3140A>T ) of PIK3CA gene encoding catalytic p110α-subunit of phosphatidylinositol-3-kinase was studied...

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Veröffentlicht in:Bulletin of experimental biology and medicine 2017-06, Vol.163 (2), p.250-254
Hauptverfasser: Filipenko, M. L., Os’kina, N. A., Oskorbin, I. A., Mishukova, O. V., Ovchinnikova, L. K., Gershtein, E. S., Kushlinskii, N. E.
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container_issue 2
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container_title Bulletin of experimental biology and medicine
container_volume 163
creator Filipenko, M. L.
Os’kina, N. A.
Oskorbin, I. A.
Mishukova, O. V.
Ovchinnikova, L. K.
Gershtein, E. S.
Kushlinskii, N. E.
description The presence of activating somatic mutations in codons 542 and 545 of exon 9 ( p.E542K c.1624G>A and p.E545K c.1633G>A ) and in codon 1047 of exon 20 ( p.H1047R c.3140A>G and p.H1047L c.3140A>T ) of PIK3CA gene encoding catalytic p110α-subunit of phosphatidylinositol-3-kinase was studied in tumors of 473 breast cancer patients by multiplex allele-specific real-time PCR. Fifty-eight (12.3%) different mutations were found. An increase in the frequency of PIK3CA gene mutations with disease progression (from 2.4 to 28.7% with tumor progression from I-IIa to III-IV stage; p =0.0001) and a trend towards its increase in the tumors with unfavorable prognostic characteristics (high histological grade, triple negative phenotype) were demonstrated. The presence of the studied PIK3CA gene mutations in tumors significantly reduces relapse-free survival in the total group and in stage III cancer patients.
doi_str_mv 10.1007/s10517-017-3777-z
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L.</au><au>Os’kina, N. A.</au><au>Oskorbin, I. A.</au><au>Mishukova, O. V.</au><au>Ovchinnikova, L. K.</au><au>Gershtein, E. S.</au><au>Kushlinskii, N. 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Fifty-eight (12.3%) different mutations were found. An increase in the frequency of PIK3CA gene mutations with disease progression (from 2.4 to 28.7% with tumor progression from I-IIa to III-IV stage; p =0.0001) and a trend towards its increase in the tumors with unfavorable prognostic characteristics (high histological grade, triple negative phenotype) were demonstrated. The presence of the studied PIK3CA gene mutations in tumors significantly reduces relapse-free survival in the total group and in stage III cancer patients.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>28726194</pmid><doi>10.1007/s10517-017-3777-z</doi><tpages>5</tpages></addata></record>
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subjects 1-Phosphatidylinositol 3-kinase
Adult
Aged
Aged, 80 and over
Alleles
Biomedical and Life Sciences
Biomedicine
Breast cancer
Breast Neoplasms - genetics
Breast Neoplasms - pathology
Cancer genetics
Cancer research
Care and treatment
Cell Biology
Class I Phosphatidylinositol 3-Kinases - genetics
Codons
Development and progression
Exons - genetics
Gene mutation
Genes
Genetic aspects
Genetic research
Humans
Internal Medicine
Laboratory Medicine
Middle Aged
Mutation
Mutation - genetics
Oncology
Pathology
Phenotypes
Physical characteristics
Prognosis
Real-Time Polymerase Chain Reaction
Tumors
title Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients
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