Infrequency of p53 gene mutations in ependymomas
Ependymomas, which comprise 5% of central nervous system tumors, have not been extensively characterized genetically. The p53 tumor suppressor gene is frequently mutated in human cancer, and is important in the pathogenesis of other central nervous system (CNS) tumors. Chromosomal DNA corresponding...
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Veröffentlicht in: | Journal of neuro-oncology 1996-02, Vol.27 (2), p.111-115 |
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description | Ependymomas, which comprise 5% of central nervous system tumors, have not been extensively characterized genetically. The p53 tumor suppressor gene is frequently mutated in human cancer, and is important in the pathogenesis of other central nervous system (CNS) tumors. Chromosomal DNA corresponding to the p53 tumor suppressor gene was amplified by the polymerase chain reaction (PCR) from 31 archival ependymoma specimens. DNA was screened for the presence of p53 mutations by single strand conformational polymorphism (SSCP) analysis; samples with altered mobility were further tested for the presence of mutation by direct DNA sequence analysis. Of the 31 ependymomas tested, one contained a detectable DNA sequence change in the p53 gene. Sequencing revealed a silent mutation in exon 6, at codon 213, which represents a known p53 sequence polymorphism. These finding suggest that in contrast to many other human cancers, p53 mutation is not important in the pathogenesis or progression of ependymomas. |
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Sequencing revealed a silent mutation in exon 6, at codon 213, which represents a known p53 sequence polymorphism. These finding suggest that in contrast to many other human cancers, p53 mutation is not important in the pathogenesis or progression of ependymomas.</description><identifier>ISSN: 0167-594X</identifier><identifier>EISSN: 1573-7373</identifier><identifier>DOI: 10.1007/bf00177473</identifier><identifier>PMID: 8699232</identifier><identifier>CODEN: JNODD2</identifier><language>eng</language><publisher>Dordrecht: Springer</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Base Sequence ; Biological and medical sciences ; Brain Neoplasms - genetics ; Child ; Child, Preschool ; Ependymoma - genetics ; Female ; Genes, p53 ; Humans ; Infant ; Male ; Medical sciences ; Middle Aged ; Molecular Sequence Data ; Neurology ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Tumors of the nervous system. 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L</creatorcontrib><creatorcontrib>RUSHING, E. J</creatorcontrib><creatorcontrib>SCHOLD, S. C</creatorcontrib><creatorcontrib>NISEN, P. D</creatorcontrib><title>Infrequency of p53 gene mutations in ependymomas</title><title>Journal of neuro-oncology</title><addtitle>J Neurooncol</addtitle><description>Ependymomas, which comprise 5% of central nervous system tumors, have not been extensively characterized genetically. The p53 tumor suppressor gene is frequently mutated in human cancer, and is important in the pathogenesis of other central nervous system (CNS) tumors. Chromosomal DNA corresponding to the p53 tumor suppressor gene was amplified by the polymerase chain reaction (PCR) from 31 archival ependymoma specimens. DNA was screened for the presence of p53 mutations by single strand conformational polymorphism (SSCP) analysis; samples with altered mobility were further tested for the presence of mutation by direct DNA sequence analysis. Of the 31 ependymomas tested, one contained a detectable DNA sequence change in the p53 gene. Sequencing revealed a silent mutation in exon 6, at codon 213, which represents a known p53 sequence polymorphism. These finding suggest that in contrast to many other human cancers, p53 mutation is not important in the pathogenesis or progression of ependymomas.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Brain Neoplasms - genetics</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Ependymoma - genetics</subject><subject>Female</subject><subject>Genes, p53</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Neurology</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Tumors of the nervous system. Phacomatoses</subject><issn>0167-594X</issn><issn>1573-7373</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo90EFLxDAQBeAgyrquXrwLPYgHoTrJpJn2qIurCwteFLyVNE2k0qa1aQ_7761s9TSH9_EYHmOXHO44AN0XDoATScIjtuQJYUxIeMyWwBXFSSY_TtlZCF8AMBm-YItUZZlAsWSw9a6336P1Zh-1LuoSjD6tt1EzDnqoWh-iyke2s77cN22jwzk7cboO9mK-K_a-eXpbv8S71-ft-mEXG5QwxEZqo0BDkaUOtaTSCOGgSIq0kBxRoJIIRpDUWnPKSBBPSi0KVcoSDSlcsZtDb9e303thyJsqGFvX2tt2DDmlQEJhOsHbAzR9G0JvXd71VaP7fc4h_50nf9z8zTPhq7l1LBpb_tN5jym_nnMdjK5dr72pwj8TWaoQAX8ADWxqXw</recordid><startdate>19960201</startdate><enddate>19960201</enddate><creator>FINK, K. L</creator><creator>RUSHING, E. J</creator><creator>SCHOLD, S. C</creator><creator>NISEN, P. D</creator><general>Springer</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19960201</creationdate><title>Infrequency of p53 gene mutations in ependymomas</title><author>FINK, K. L ; RUSHING, E. J ; SCHOLD, S. C ; NISEN, P. D</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c340t-c4ac60a0b98f3a47dc22f0b5b8b4133236430c274aaa17972715da2b6d4d3c763</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Brain Neoplasms - genetics</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Ependymoma - genetics</topic><topic>Female</topic><topic>Genes, p53</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Molecular Sequence Data</topic><topic>Neurology</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Tumors of the nervous system. Phacomatoses</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>FINK, K. L</creatorcontrib><creatorcontrib>RUSHING, E. J</creatorcontrib><creatorcontrib>SCHOLD, S. C</creatorcontrib><creatorcontrib>NISEN, P. D</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of neuro-oncology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>FINK, K. L</au><au>RUSHING, E. J</au><au>SCHOLD, S. C</au><au>NISEN, P. D</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Infrequency of p53 gene mutations in ependymomas</atitle><jtitle>Journal of neuro-oncology</jtitle><addtitle>J Neurooncol</addtitle><date>1996-02-01</date><risdate>1996</risdate><volume>27</volume><issue>2</issue><spage>111</spage><epage>115</epage><pages>111-115</pages><issn>0167-594X</issn><eissn>1573-7373</eissn><coden>JNODD2</coden><abstract>Ependymomas, which comprise 5% of central nervous system tumors, have not been extensively characterized genetically. The p53 tumor suppressor gene is frequently mutated in human cancer, and is important in the pathogenesis of other central nervous system (CNS) tumors. Chromosomal DNA corresponding to the p53 tumor suppressor gene was amplified by the polymerase chain reaction (PCR) from 31 archival ependymoma specimens. DNA was screened for the presence of p53 mutations by single strand conformational polymorphism (SSCP) analysis; samples with altered mobility were further tested for the presence of mutation by direct DNA sequence analysis. Of the 31 ependymomas tested, one contained a detectable DNA sequence change in the p53 gene. Sequencing revealed a silent mutation in exon 6, at codon 213, which represents a known p53 sequence polymorphism. These finding suggest that in contrast to many other human cancers, p53 mutation is not important in the pathogenesis or progression of ependymomas.</abstract><cop>Dordrecht</cop><pub>Springer</pub><pmid>8699232</pmid><doi>10.1007/bf00177473</doi><tpages>5</tpages></addata></record> |
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subjects | Adolescent Adult Aged Aged, 80 and over Base Sequence Biological and medical sciences Brain Neoplasms - genetics Child Child, Preschool Ependymoma - genetics Female Genes, p53 Humans Infant Male Medical sciences Middle Aged Molecular Sequence Data Neurology Point Mutation Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Tumors of the nervous system. Phacomatoses |
title | Infrequency of p53 gene mutations in ependymomas |
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