Associations between common polymorphisms in TP53 and p21WAF1/Cip1 and phenotypic features of breast cancer
The tumour suppressor gene TP53 and its downstream effector p21 are thought to play major roles in the development of breast cancer. We investigated three common sequence variants in TP53 and p21 for possible associations with the risk of breast cancer and with various phenotypic features of this di...
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| Veröffentlicht in: | Carcinogenesis (New York) 2002-02, Vol.23 (2), p.311-315 |
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| creator | Powell, Brenda L. van Staveren, Iris L. Roosken, Paul Grieu, Fabienne Berns, Els M.J.J. Iacopetta, Barry |
| description | The tumour suppressor gene TP53 and its downstream effector p21 are thought to play major roles in the development of breast cancer. We investigated three common sequence variants in TP53 and p21 for possible associations with the risk of breast cancer and with various phenotypic features of this disease. A total of 351 cases were available for study. Germline DNA obtained from female subjects of similar age but without cancer was used to estimate the TP53 and p21 genotype frequencies in a control population. A single nucleotide polymorphism in intron 2 of p21 was associated with slightly increased breast cancer risk (RR = 1.4, P = 0.011) and with well/moderately differentiated tumour histology (P = 0.029). The 16 bp insertion polymorphism in intron 3 of TP53 was associated with poor histological grade (OR = 2.3, P = 0.013) independently of other pathological features. The codon 31 polymorphism in p21 was strongly linked to negative progesterone receptor status (OR = 3.4, P = 0.0001), suggesting this variant may have functional significance for the progesterone signalling pathway in breast cancer. These results add to the growing body of evidence that genetic variants can influence not only the risk of breast cancer but also the disease phenotype. |
| doi_str_mv | 10.1093/carcin/23.2.311 |
| format | Article |
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We investigated three common sequence variants in TP53 and p21 for possible associations with the risk of breast cancer and with various phenotypic features of this disease. A total of 351 cases were available for study. Germline DNA obtained from female subjects of similar age but without cancer was used to estimate the TP53 and p21 genotype frequencies in a control population. A single nucleotide polymorphism in intron 2 of p21 was associated with slightly increased breast cancer risk (RR = 1.4, P = 0.011) and with well/moderately differentiated tumour histology (P = 0.029). The 16 bp insertion polymorphism in intron 3 of TP53 was associated with poor histological grade (OR = 2.3, P = 0.013) independently of other pathological features. The codon 31 polymorphism in p21 was strongly linked to negative progesterone receptor status (OR = 3.4, P = 0.0001), suggesting this variant may have functional significance for the progesterone signalling pathway in breast cancer. These results add to the growing body of evidence that genetic variants can influence not only the risk of breast cancer but also the disease phenotype.</description><identifier>ISSN: 0143-3334</identifier><identifier>EISSN: 1460-2180</identifier><identifier>DOI: 10.1093/carcin/23.2.311</identifier><identifier>PMID: 11872638</identifier><identifier>CODEN: CRNGDP</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Adult ; Aged ; Alleles ; Biological and medical sciences ; Breast Neoplasms - genetics ; Cyclin-Dependent Kinase Inhibitor p21 ; Cyclins - genetics ; F-SSCP ; Female ; fluorescent single strand conformation polymorphism ; Genes, p53 - genetics ; Genotype ; Gynecology. Andrology. Obstetrics ; Humans ; Introns ; Mammary gland diseases ; Medical sciences ; Middle Aged ; Molecular Sequence Data ; Phenotype ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Polymorphism, Single-Stranded Conformational ; Progesterone - metabolism ; Risk Factors ; Signal Transduction ; Tumors</subject><ispartof>Carcinogenesis (New York), 2002-02, Vol.23 (2), p.311-315</ispartof><rights>2002 INIST-CNRS</rights><rights>Copyright Oxford University Press(England) Feb 2002</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c460t-83d9f0a5b92ff41433aa3eafffc96c5e1547a854aea775b295be852eeb14f98f3</citedby><cites>FETCH-LOGICAL-c460t-83d9f0a5b92ff41433aa3eafffc96c5e1547a854aea775b295be852eeb14f98f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13519327$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11872638$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Powell, Brenda L.</creatorcontrib><creatorcontrib>van Staveren, Iris L.</creatorcontrib><creatorcontrib>Roosken, Paul</creatorcontrib><creatorcontrib>Grieu, Fabienne</creatorcontrib><creatorcontrib>Berns, Els M.J.J.</creatorcontrib><creatorcontrib>Iacopetta, Barry</creatorcontrib><title>Associations between common polymorphisms in TP53 and p21WAF1/Cip1 and phenotypic features of breast cancer</title><title>Carcinogenesis (New York)</title><addtitle>Carcinogenesis</addtitle><description>The tumour suppressor gene TP53 and its downstream effector p21 are thought to play major roles in the development of breast cancer. We investigated three common sequence variants in TP53 and p21 for possible associations with the risk of breast cancer and with various phenotypic features of this disease. A total of 351 cases were available for study. Germline DNA obtained from female subjects of similar age but without cancer was used to estimate the TP53 and p21 genotype frequencies in a control population. A single nucleotide polymorphism in intron 2 of p21 was associated with slightly increased breast cancer risk (RR = 1.4, P = 0.011) and with well/moderately differentiated tumour histology (P = 0.029). The 16 bp insertion polymorphism in intron 3 of TP53 was associated with poor histological grade (OR = 2.3, P = 0.013) independently of other pathological features. The codon 31 polymorphism in p21 was strongly linked to negative progesterone receptor status (OR = 3.4, P = 0.0001), suggesting this variant may have functional significance for the progesterone signalling pathway in breast cancer. These results add to the growing body of evidence that genetic variants can influence not only the risk of breast cancer but also the disease phenotype.</description><subject>Adult</subject><subject>Aged</subject><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Breast Neoplasms - genetics</subject><subject>Cyclin-Dependent Kinase Inhibitor p21</subject><subject>Cyclins - genetics</subject><subject>F-SSCP</subject><subject>Female</subject><subject>fluorescent single strand conformation polymorphism</subject><subject>Genes, p53 - genetics</subject><subject>Genotype</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Introns</subject><subject>Mammary gland diseases</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Phenotype</subject><subject>Polymorphism, Genetic</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Progesterone - metabolism</subject><subject>Risk Factors</subject><subject>Signal Transduction</subject><subject>Tumors</subject><issn>0143-3334</issn><issn>1460-2180</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpd0c9rFDEUB_Agil2rZ28SBL3NbpI3mR_HZbFWLFWhavESMtkXmnYmmSYz6P73psxiwVMg-eTl5X0Jec3ZmrMWNkZH4_xGwFqsgfMnZMXLihWCN-wpWTFeQgEA5Ql5kdItY7wC2T4nJ5w3taigWZG7bUrBOD254BPtcPqN6KkJwxA8HUN_GEIcb1waEnWeXn2VQLXf01Hwn9szvtm5kS8bN-jDdBidoRb1NEdMNFjaRdRpokZ7g_EleWZ1n_DVcT0l388-XO3Oi4svHz_ttheFyb1PRQP71jItu1ZYW-YvgNaA2lpr2spI5LKsdSNLjbquZSda2WEjBWLHS9s2Fk7J-6XuGMP9jGlSg0sG-157DHNSvIG2EUxm-PY_eBvm6HNvSvAWZN3KB7RZkIkhpYhWjdENOh4UZ-ohBLWEoAQooXII-cabY9m5G3D_6I9Tz-DdEehkdG9jHo9Ljw5kfl3U2RWLc2nCP__OdbxTVQ21VOfXv9S3yx_Xl9B8ViX8BX4An_s</recordid><startdate>20020201</startdate><enddate>20020201</enddate><creator>Powell, Brenda L.</creator><creator>van Staveren, Iris L.</creator><creator>Roosken, Paul</creator><creator>Grieu, Fabienne</creator><creator>Berns, Els M.J.J.</creator><creator>Iacopetta, Barry</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>BSCLL</scope><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>7T5</scope><scope>7TM</scope><scope>7TO</scope><scope>7U7</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20020201</creationdate><title>Associations between common polymorphisms in TP53 and p21WAF1/Cip1 and phenotypic features of breast cancer</title><author>Powell, Brenda L. ; van Staveren, Iris L. ; Roosken, Paul ; Grieu, Fabienne ; Berns, Els M.J.J. ; Iacopetta, Barry</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c460t-83d9f0a5b92ff41433aa3eafffc96c5e1547a854aea775b295be852eeb14f98f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>Breast Neoplasms - genetics</topic><topic>Cyclin-Dependent Kinase Inhibitor p21</topic><topic>Cyclins - genetics</topic><topic>F-SSCP</topic><topic>Female</topic><topic>fluorescent single strand conformation polymorphism</topic><topic>Genes, p53 - genetics</topic><topic>Genotype</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Introns</topic><topic>Mammary gland diseases</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Molecular Sequence Data</topic><topic>Phenotype</topic><topic>Polymorphism, Genetic</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Progesterone - metabolism</topic><topic>Risk Factors</topic><topic>Signal Transduction</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Powell, Brenda L.</creatorcontrib><creatorcontrib>van Staveren, Iris L.</creatorcontrib><creatorcontrib>Roosken, Paul</creatorcontrib><creatorcontrib>Grieu, Fabienne</creatorcontrib><creatorcontrib>Berns, Els M.J.J.</creatorcontrib><creatorcontrib>Iacopetta, Barry</creatorcontrib><collection>Istex</collection><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>Immunology Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Carcinogenesis (New York)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Powell, Brenda L.</au><au>van Staveren, Iris L.</au><au>Roosken, Paul</au><au>Grieu, Fabienne</au><au>Berns, Els M.J.J.</au><au>Iacopetta, Barry</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Associations between common polymorphisms in TP53 and p21WAF1/Cip1 and phenotypic features of breast cancer</atitle><jtitle>Carcinogenesis (New York)</jtitle><addtitle>Carcinogenesis</addtitle><date>2002-02-01</date><risdate>2002</risdate><volume>23</volume><issue>2</issue><spage>311</spage><epage>315</epage><pages>311-315</pages><issn>0143-3334</issn><eissn>1460-2180</eissn><coden>CRNGDP</coden><abstract>The tumour suppressor gene TP53 and its downstream effector p21 are thought to play major roles in the development of breast cancer. We investigated three common sequence variants in TP53 and p21 for possible associations with the risk of breast cancer and with various phenotypic features of this disease. A total of 351 cases were available for study. Germline DNA obtained from female subjects of similar age but without cancer was used to estimate the TP53 and p21 genotype frequencies in a control population. A single nucleotide polymorphism in intron 2 of p21 was associated with slightly increased breast cancer risk (RR = 1.4, P = 0.011) and with well/moderately differentiated tumour histology (P = 0.029). The 16 bp insertion polymorphism in intron 3 of TP53 was associated with poor histological grade (OR = 2.3, P = 0.013) independently of other pathological features. The codon 31 polymorphism in p21 was strongly linked to negative progesterone receptor status (OR = 3.4, P = 0.0001), suggesting this variant may have functional significance for the progesterone signalling pathway in breast cancer. These results add to the growing body of evidence that genetic variants can influence not only the risk of breast cancer but also the disease phenotype.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>11872638</pmid><doi>10.1093/carcin/23.2.311</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Adult Aged Alleles Biological and medical sciences Breast Neoplasms - genetics Cyclin-Dependent Kinase Inhibitor p21 Cyclins - genetics F-SSCP Female fluorescent single strand conformation polymorphism Genes, p53 - genetics Genotype Gynecology. Andrology. Obstetrics Humans Introns Mammary gland diseases Medical sciences Middle Aged Molecular Sequence Data Phenotype Polymorphism, Genetic Polymorphism, Single Nucleotide Polymorphism, Single-Stranded Conformational Progesterone - metabolism Risk Factors Signal Transduction Tumors |
| title | Associations between common polymorphisms in TP53 and p21WAF1/Cip1 and phenotypic features of breast cancer |
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