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

被引：13

作者：

Filipenko, M. L. ^{[1
,3
]}

Os'kina, N. A. ^{[1
]}

Oskorbin, I. A. ^{[1
,3
]}

Mishukova, O. V. ^{[1
,3
]}

Ovchinnikova, L. K. ^{[2
]}

Gershtein, E. S. ^{[2
]}

Kushlinskii, N. E. ^{[2
]}

机构：

[1] Russian Acad Sci, Siberian Div, Inst Chem Biol & Fundamental Med, Novosibirsk, Russia

[2] Minist Hlth Russian Federat, NN Blokhin Russian Canc Res Ctr, Moscow, Russia

[3] Novosibirsk Natl Res State Univ, Novosibirsk, Russia

来源：

BULLETIN OF EXPERIMENTAL BIOLOGY AND MEDICINE | 2017年 / 163卷 / 02期

关键词：

allele-specific real-time PCR; PIK3CA gene; mutations; breast cancer; prognosis; TRASTUZUMAB;

D O I：

10.1007/s10517-017-3777-z

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

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 p110 alpha-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.

引用

页码：250 / 254

页数：5

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