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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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 |
format | Article |
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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.</description><identifier>ISSN: 0007-4888</identifier><identifier>EISSN: 1573-8221</identifier><identifier>DOI: 10.1007/s10517-017-3777-z</identifier><identifier>PMID: 28726194</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>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</subject><ispartof>Bulletin of experimental biology and medicine, 2017-06, Vol.163 (2), p.250-254</ispartof><rights>Springer Science+Business Media, LLC 2017</rights><rights>COPYRIGHT 2017 Springer</rights><rights>Bulletin of Experimental Biology and Medicine is a copyright of Springer, (2017). All Rights Reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c470t-7c3a0f807724d4248f618d3561835b6a0fc77d037ca50c24534e79a093fdceb73</citedby><cites>FETCH-LOGICAL-c470t-7c3a0f807724d4248f618d3561835b6a0fc77d037ca50c24534e79a093fdceb73</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10517-017-3777-z$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10517-017-3777-z$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28726194$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Filipenko, M. L.</creatorcontrib><creatorcontrib>Os’kina, N. A.</creatorcontrib><creatorcontrib>Oskorbin, I. A.</creatorcontrib><creatorcontrib>Mishukova, O. V.</creatorcontrib><creatorcontrib>Ovchinnikova, L. K.</creatorcontrib><creatorcontrib>Gershtein, E. S.</creatorcontrib><creatorcontrib>Kushlinskii, N. E.</creatorcontrib><title>Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients</title><title>Bulletin of experimental biology and medicine</title><addtitle>Bull Exp Biol Med</addtitle><addtitle>Bull Exp Biol Med</addtitle><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.</description><subject>1-Phosphatidylinositol 3-kinase</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Alleles</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Breast cancer</subject><subject>Breast Neoplasms - genetics</subject><subject>Breast Neoplasms - pathology</subject><subject>Cancer genetics</subject><subject>Cancer research</subject><subject>Care and treatment</subject><subject>Cell Biology</subject><subject>Class I Phosphatidylinositol 3-Kinases - genetics</subject><subject>Codons</subject><subject>Development and progression</subject><subject>Exons - genetics</subject><subject>Gene mutation</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic research</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Laboratory Medicine</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Oncology</subject><subject>Pathology</subject><subject>Phenotypes</subject><subject>Physical characteristics</subject><subject>Prognosis</subject><subject>Real-Time Polymerase Chain Reaction</subject><subject>Tumors</subject><issn>0007-4888</issn><issn>1573-8221</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp1kt1u1DAQhSMEokvhAbhBlpAQNyn-SeLkchtBqWjFSpRry-tMdl0l9mI7IPomvC2T3UIpAlm2NfY3xx77ZNlzRk8YpfJNZLRkMqfYhZQyv3mQLVgpRV5zzh5mC4pQXtR1fZQ9ifF6DmnFHmdHvJa8Yk2xyH4sY_TG6mS9I2tI3wAcSVsgqwBf9QDOAPE9-eRHRAy5nNIejcQ6sjr_INolOQMHc3g1jT5Eol1H2sE6a_SwDy592G394Df7lXargzYJgo0oGGfx0wA6JtJqPCyQFR4ALsWn2aNeDxGe3c7H2ed3b6_a9_nFx7PzdnmRm0LSlEsjNO1rKiUvuoIXdV-xuhMljqJcV7hnpOyokEaX1PCiFAXIRtNG9J2BtRTH2euD7i74LxPEpEYbDQyDduCnqFjDGeOVKBpEX_6FXvspOLyd4vi2TVXxSt5RG3w_ZV3vE1Y8i6plyYVo8JYMqZN_UNg6GK3xDnqL6_cSXv2RsAU9pG30w7T_jvsgO4Am-BgD9GoX7KjDd8Womn2jDr5R6Bs1-0bdYM6L28qm9Qjd74xfRkGAH4CIW24D4a70_6v-BE07y9c</recordid><startdate>20170601</startdate><enddate>20170601</enddate><creator>Filipenko, M. L.</creator><creator>Os’kina, N. A.</creator><creator>Oskorbin, I. A.</creator><creator>Mishukova, O. V.</creator><creator>Ovchinnikova, L. K.</creator><creator>Gershtein, E. S.</creator><creator>Kushlinskii, N. 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L. ; Os’kina, N. A. ; Oskorbin, I. A. ; Mishukova, O. V. ; Ovchinnikova, L. K. ; Gershtein, E. S. ; Kushlinskii, N. 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L.</creatorcontrib><creatorcontrib>Os’kina, N. A.</creatorcontrib><creatorcontrib>Oskorbin, I. A.</creatorcontrib><creatorcontrib>Mishukova, O. V.</creatorcontrib><creatorcontrib>Ovchinnikova, L. K.</creatorcontrib><creatorcontrib>Gershtein, E. S.</creatorcontrib><creatorcontrib>Kushlinskii, N. 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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. E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients</atitle><jtitle>Bulletin of experimental biology and medicine</jtitle><stitle>Bull Exp Biol Med</stitle><addtitle>Bull Exp Biol Med</addtitle><date>2017-06-01</date><risdate>2017</risdate><volume>163</volume><issue>2</issue><spage>250</spage><epage>254</epage><pages>250-254</pages><issn>0007-4888</issn><eissn>1573-8221</eissn><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.</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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source | MEDLINE; SpringerNature Journals |
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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