Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients
M. L. Filipenko, N. A. Os'kina, I. A. Oskorbin, O. V. Mishukova, L. K. Ovchinnikova, E. S. Gershtein, N. E. Kushlinskii
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.
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Bulletin of Experimental Biology and Medicine
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https://doi.org/10.1007/s10517-017-3777-z
Опубликовано - 1 июн. 2017
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Подробные сведения о темах исследования «Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients». Вместе они формируют уникальный семантический отпечаток (fingerprint).
Mutation Химические соединения 100%
Breast Neoplasms Биологические науки и медицина 75%
Genes Биологические науки и медицина 47%
Codon Биологические науки и медицина 46%
Exons Биологические науки и медицина 39%
Neoplasms Биологические науки и медицина 38%
Phosphatidylinositol 3-Kinase Биологические науки и медицина 24%
Gene Frequency Биологические науки и медицина 23%
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Filipenko, M. L., Os'kina, N. A., Oskorbin, I. A., Mishukova, O. V., Ovchinnikova, L. K., Gershtein, E. S., & Kushlinskii, N. E. (2017). Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients. Bulletin of Experimental Biology and Medicine, 163(2), 250-254. https://doi.org/10.1007/s10517-017-3777-z
Filipenko, M. L. ; Os'kina, N. A. ; Oskorbin, I. A. и др. / Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients. В: Bulletin of Experimental Biology and Medicine. 2017 ; Том 163, № 2. стр. 250-254.
@article{916e8cd0461e4347b186250d9e6a79ba,
title = "Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients",
abstract = "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.",
keywords = "allele-specific real-time PCR, breast cancer, mutations, PIK3CA gene, prognosis, TRASTUZUMAB",
author = "Filipenko, {M. L.} and Os{\textquoteright}kina, {N. A.} and Oskorbin, {I. A.} and Mishukova, {O. V.} and Ovchinnikova, {L. K.} and Gershtein, {E. S.} and Kushlinskii, {N. E.}",
doi = "10.1007/s10517-017-3777-z",
journal = "Bulletin of Experimental Biology and Medicine",
Filipenko, ML, Os'kina, NA, Oskorbin, IA, Mishukova, OV, Ovchinnikova, LK, Gershtein, ES & Kushlinskii, NE 2017, 'Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients', Bulletin of Experimental Biology and Medicine, том. 163, № 2, стр. 250-254. https://doi.org/10.1007/s10517-017-3777-z
Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients. / Filipenko, M. L.; Os'kina, N. A.; Oskorbin, I. A. и др.
В: Bulletin of Experimental Biology and Medicine, Том 163, № 2, 01.06.2017, стр. 250-254.
T1 - Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients
AU - Filipenko, M. L.
AU - Os'kina, N. A.
AU - Oskorbin, I. A.
AU - Mishukova, O. V.
AU - Ovchinnikova, L. K.
AU - Gershtein, E. S.
AU - Kushlinskii, N. E.
N2 - 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.
AB - 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.
KW - allele-specific real-time PCR
KW - mutations
KW - PIK3CA gene
KW - TRASTUZUMAB
U2 - 10.1007/s10517-017-3777-z
DO - 10.1007/s10517-017-3777-z
JO - Bulletin of Experimental Biology and Medicine
JF - Bulletin of Experimental Biology and Medicine
Filipenko ML, Os'kina NA, Oskorbin IA, Mishukova OV, Ovchinnikova LK, Gershtein ES и др. Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients. Bulletin of Experimental Biology and Medicine. 2017 июнь 1;163(2):250-254. https://doi.org/10.1007/s10517-017-3777-z