Common genetic variability in ESR1 and EGF in relation to endometrial cancer risk and survival
We investigated common genetic variation in the entire ESR1 and EGF genes in relation to endometrial cancer risk, myometrial invasion and endometrial cancer survival. We genotyped a dense set of single-nucleotide polymorphisms (SNPs) in both genes and selected haplotype tagging SNPs (tagSNPs). The t...
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| Veröffentlicht in: | British journal of cancer 2009-04, Vol.100 (8), p.1358-1364 |
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| creator | Einarsdóttir, K Darabi, H Czene, K Li, Y Low, Y L Li, Y Q Bonnard, C Wedrén, S Liu, E T Hall, P Liu, J Humphreys, K |
| description | We investigated common genetic variation in the entire
ESR1
and
EGF
genes in relation to endometrial cancer risk, myometrial invasion and endometrial cancer survival. We genotyped a dense set of single-nucleotide polymorphisms (SNPs) in both genes and selected haplotype tagging SNPs (tagSNPs). The tagSNPs were genotyped in 713 Swedish endometrial cancer cases and 1567 population controls and the results incorporated into logistic regression and Cox proportional hazards models. We found five adjacent tagSNPs covering a region of 15 kb at the 5′ end of
ESR1
that decreased the endometrial cancer risk. The
ESR1
variants did not, however, seem to affect myometrial invasion or endometrial cancer survival. For the
EGF
gene, no association emerged between common genetic variants and endometrial cancer risk or myometrial invasion, but we found a five-tagSNP region that covered 51 kb at the 5′ end of the gene where all five tagSNPs seemed to decrease the risk of dying from endometrial cancer. One of the five tagSNPs in this region was in strong linkage disequilibrium (LD) with the untranslated A61G (rs4444903)
EGF
variant, earlier shown to be associated with risk for other forms of cancer. |
| doi_str_mv | 10.1038/sj.bjc.6604984 |
| format | Article |
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ESR1
and
EGF
genes in relation to endometrial cancer risk, myometrial invasion and endometrial cancer survival. We genotyped a dense set of single-nucleotide polymorphisms (SNPs) in both genes and selected haplotype tagging SNPs (tagSNPs). The tagSNPs were genotyped in 713 Swedish endometrial cancer cases and 1567 population controls and the results incorporated into logistic regression and Cox proportional hazards models. We found five adjacent tagSNPs covering a region of 15 kb at the 5′ end of
ESR1
that decreased the endometrial cancer risk. The
ESR1
variants did not, however, seem to affect myometrial invasion or endometrial cancer survival. For the
EGF
gene, no association emerged between common genetic variants and endometrial cancer risk or myometrial invasion, but we found a five-tagSNP region that covered 51 kb at the 5′ end of the gene where all five tagSNPs seemed to decrease the risk of dying from endometrial cancer. One of the five tagSNPs in this region was in strong linkage disequilibrium (LD) with the untranslated A61G (rs4444903)
EGF
variant, earlier shown to be associated with risk for other forms of cancer.</description><identifier>ISSN: 0007-0920</identifier><identifier>EISSN: 1532-1827</identifier><identifier>DOI: 10.1038/sj.bjc.6604984</identifier><identifier>PMID: 19319135</identifier><identifier>CODEN: BJCAAI</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Aged ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Case-Control Studies ; Drug Resistance ; Endometrial cancer ; Endometrial Neoplasms - epidemiology ; Endometrial Neoplasms - genetics ; Endometrial Neoplasms - mortality ; Epidemiology ; Epidermal growth factor ; Epidermal Growth Factor - genetics ; Estrogen Receptor alpha - genetics ; Female ; Genes ; Genetic testing ; Genetic Variation ; Genetics and Genomics ; Genomes ; Genotype ; Haplotypes ; Humans ; Medical prognosis ; Medical research ; Middle Aged ; Molecular Medicine ; Neoplasm Invasiveness - genetics ; Oncology ; Polymorphism, Single Nucleotide ; Registries ; Regression analysis ; Risk Factors ; Survival Analysis ; Sweden</subject><ispartof>British journal of cancer, 2009-04, Vol.100 (8), p.1358-1364</ispartof><rights>The Author(s) 2009</rights><rights>Copyright Nature Publishing Group Apr 21, 2009</rights><rights>Copyright © 2009 Cancer Research UK 2009 Cancer Research UK</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c524t-d57e052f20a614347830c876f6ff92a4f5ff49a50030a800f5a5796113002753</citedby><cites>FETCH-LOGICAL-c524t-d57e052f20a614347830c876f6ff92a4f5ff49a50030a800f5a5796113002753</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2676544/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2676544/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,550,723,776,780,881,27901,27902,41464,42533,51294,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19319135$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:118674129$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Einarsdóttir, K</creatorcontrib><creatorcontrib>Darabi, H</creatorcontrib><creatorcontrib>Czene, K</creatorcontrib><creatorcontrib>Li, Y</creatorcontrib><creatorcontrib>Low, Y L</creatorcontrib><creatorcontrib>Li, Y Q</creatorcontrib><creatorcontrib>Bonnard, C</creatorcontrib><creatorcontrib>Wedrén, S</creatorcontrib><creatorcontrib>Liu, E T</creatorcontrib><creatorcontrib>Hall, P</creatorcontrib><creatorcontrib>Liu, J</creatorcontrib><creatorcontrib>Humphreys, K</creatorcontrib><title>Common genetic variability in ESR1 and EGF in relation to endometrial cancer risk and survival</title><title>British journal of cancer</title><addtitle>Br J Cancer</addtitle><addtitle>Br J Cancer</addtitle><description>We investigated common genetic variation in the entire
ESR1
and
EGF
genes in relation to endometrial cancer risk, myometrial invasion and endometrial cancer survival. We genotyped a dense set of single-nucleotide polymorphisms (SNPs) in both genes and selected haplotype tagging SNPs (tagSNPs). The tagSNPs were genotyped in 713 Swedish endometrial cancer cases and 1567 population controls and the results incorporated into logistic regression and Cox proportional hazards models. We found five adjacent tagSNPs covering a region of 15 kb at the 5′ end of
ESR1
that decreased the endometrial cancer risk. The
ESR1
variants did not, however, seem to affect myometrial invasion or endometrial cancer survival. For the
EGF
gene, no association emerged between common genetic variants and endometrial cancer risk or myometrial invasion, but we found a five-tagSNP region that covered 51 kb at the 5′ end of the gene where all five tagSNPs seemed to decrease the risk of dying from endometrial cancer. One of the five tagSNPs in this region was in strong linkage disequilibrium (LD) with the untranslated A61G (rs4444903)
EGF
variant, earlier shown to be associated with risk for other forms of cancer.</description><subject>Aged</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Case-Control Studies</subject><subject>Drug Resistance</subject><subject>Endometrial cancer</subject><subject>Endometrial Neoplasms - epidemiology</subject><subject>Endometrial Neoplasms - genetics</subject><subject>Endometrial Neoplasms - mortality</subject><subject>Epidemiology</subject><subject>Epidermal growth factor</subject><subject>Epidermal Growth Factor - genetics</subject><subject>Estrogen Receptor alpha - genetics</subject><subject>Female</subject><subject>Genes</subject><subject>Genetic testing</subject><subject>Genetic Variation</subject><subject>Genetics and Genomics</subject><subject>Genomes</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Medical prognosis</subject><subject>Medical research</subject><subject>Middle Aged</subject><subject>Molecular Medicine</subject><subject>Neoplasm Invasiveness - genetics</subject><subject>Oncology</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Registries</subject><subject>Regression analysis</subject><subject>Risk Factors</subject><subject>Survival Analysis</subject><subject>Sweden</subject><issn>0007-0920</issn><issn>1532-1827</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><sourceid>D8T</sourceid><recordid>eNqFks9rFDEUx4Modq1ePcrgwdtsX34nF0GWbRUKgvZsyM4ma7YzSU1mtvS_N3UHawXxlLx8P--b5PFF6DWGJQaqzsp-udl3SyGAacWeoAXmlLRYEfkULQBAtqAJnKAXpexrqUHJ5-gEa4o1pnyBvq3SMKTY7Fx0Y-iag83BbkIfxrsmxGb99QtubNw264vz-zq73o6h8mNqXNymwY2V75vOxs7lJody_QsvUz6Eg-1fomfe9sW9mtdTdHW-vlp9bC8_X3xafbhsO07Y2G65dMCJJ2AFZpRJRaFTUnjhvSaWee4905YDULAKwHPLpRYYUwAiOT1F7dG23LqbaWNuchhsvjPJBjMfXdedM5wrLaHy7498VQa37Vwcs-0ftT1WYvhudulgiJCCM1YN3s0GOf2YXBnNEErn-t5Gl6ZihMSUSCb_CxIQiimBK_j2L3Cfphzr0AwhWivCBKnQ8gh1OZWSnf_9ZAzmPg-m7E3Ng5nzUBve_PnRB3wOQAXO5slVKe5cfrj2H5Y_Ac-5wQw</recordid><startdate>20090421</startdate><enddate>20090421</enddate><creator>Einarsdóttir, K</creator><creator>Darabi, H</creator><creator>Czene, K</creator><creator>Li, Y</creator><creator>Low, Y L</creator><creator>Li, Y Q</creator><creator>Bonnard, C</creator><creator>Wedrén, S</creator><creator>Liu, E T</creator><creator>Hall, P</creator><creator>Liu, J</creator><creator>Humphreys, K</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><scope>C6C</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>3V.</scope><scope>7RV</scope><scope>7TO</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB0</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7U1</scope><scope>7U2</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>ADTPV</scope><scope>AOWAS</scope><scope>D8T</scope><scope>ZZAVC</scope></search><sort><creationdate>20090421</creationdate><title>Common genetic variability in ESR1 and EGF in relation to endometrial cancer risk and survival</title><author>Einarsdóttir, K ; Darabi, H ; Czene, K ; Li, Y ; Low, Y L ; Li, Y Q ; Bonnard, C ; Wedrén, S ; Liu, E T ; Hall, P ; Liu, J ; Humphreys, K</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c524t-d57e052f20a614347830c876f6ff92a4f5ff49a50030a800f5a5796113002753</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Aged</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Case-Control Studies</topic><topic>Drug Resistance</topic><topic>Endometrial cancer</topic><topic>Endometrial Neoplasms - epidemiology</topic><topic>Endometrial Neoplasms - genetics</topic><topic>Endometrial Neoplasms - mortality</topic><topic>Epidemiology</topic><topic>Epidermal growth factor</topic><topic>Epidermal Growth Factor - genetics</topic><topic>Estrogen Receptor alpha - genetics</topic><topic>Female</topic><topic>Genes</topic><topic>Genetic testing</topic><topic>Genetic Variation</topic><topic>Genetics and Genomics</topic><topic>Genomes</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Medical prognosis</topic><topic>Medical research</topic><topic>Middle Aged</topic><topic>Molecular Medicine</topic><topic>Neoplasm Invasiveness - genetics</topic><topic>Oncology</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Registries</topic><topic>Regression analysis</topic><topic>Risk Factors</topic><topic>Survival Analysis</topic><topic>Sweden</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Einarsdóttir, K</creatorcontrib><creatorcontrib>Darabi, H</creatorcontrib><creatorcontrib>Czene, K</creatorcontrib><creatorcontrib>Li, Y</creatorcontrib><creatorcontrib>Low, Y L</creatorcontrib><creatorcontrib>Li, Y Q</creatorcontrib><creatorcontrib>Bonnard, C</creatorcontrib><creatorcontrib>Wedrén, S</creatorcontrib><creatorcontrib>Liu, E T</creatorcontrib><creatorcontrib>Hall, P</creatorcontrib><creatorcontrib>Liu, J</creatorcontrib><creatorcontrib>Humphreys, K</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Risk Abstracts</collection><collection>Safety Science and Risk</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>SwePub</collection><collection>SwePub Articles</collection><collection>SWEPUB Freely available online</collection><collection>SwePub Articles full text</collection><jtitle>British journal of cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Einarsdóttir, K</au><au>Darabi, H</au><au>Czene, K</au><au>Li, Y</au><au>Low, Y L</au><au>Li, Y Q</au><au>Bonnard, C</au><au>Wedrén, S</au><au>Liu, E T</au><au>Hall, P</au><au>Liu, J</au><au>Humphreys, K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Common genetic variability in ESR1 and EGF in relation to endometrial cancer risk and survival</atitle><jtitle>British journal of cancer</jtitle><stitle>Br J Cancer</stitle><addtitle>Br J Cancer</addtitle><date>2009-04-21</date><risdate>2009</risdate><volume>100</volume><issue>8</issue><spage>1358</spage><epage>1364</epage><pages>1358-1364</pages><issn>0007-0920</issn><eissn>1532-1827</eissn><coden>BJCAAI</coden><abstract>We investigated common genetic variation in the entire
ESR1
and
EGF
genes in relation to endometrial cancer risk, myometrial invasion and endometrial cancer survival. We genotyped a dense set of single-nucleotide polymorphisms (SNPs) in both genes and selected haplotype tagging SNPs (tagSNPs). The tagSNPs were genotyped in 713 Swedish endometrial cancer cases and 1567 population controls and the results incorporated into logistic regression and Cox proportional hazards models. We found five adjacent tagSNPs covering a region of 15 kb at the 5′ end of
ESR1
that decreased the endometrial cancer risk. The
ESR1
variants did not, however, seem to affect myometrial invasion or endometrial cancer survival. For the
EGF
gene, no association emerged between common genetic variants and endometrial cancer risk or myometrial invasion, but we found a five-tagSNP region that covered 51 kb at the 5′ end of the gene where all five tagSNPs seemed to decrease the risk of dying from endometrial cancer. One of the five tagSNPs in this region was in strong linkage disequilibrium (LD) with the untranslated A61G (rs4444903)
EGF
variant, earlier shown to be associated with risk for other forms of cancer.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>19319135</pmid><doi>10.1038/sj.bjc.6604984</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Springer Nature - Complete Springer Journals; Nature Journals Online; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; SWEPUB Freely available online |
| subjects | Aged Biomedical and Life Sciences Biomedicine Cancer Research Case-Control Studies Drug Resistance Endometrial cancer Endometrial Neoplasms - epidemiology Endometrial Neoplasms - genetics Endometrial Neoplasms - mortality Epidemiology Epidermal growth factor Epidermal Growth Factor - genetics Estrogen Receptor alpha - genetics Female Genes Genetic testing Genetic Variation Genetics and Genomics Genomes Genotype Haplotypes Humans Medical prognosis Medical research Middle Aged Molecular Medicine Neoplasm Invasiveness - genetics Oncology Polymorphism, Single Nucleotide Registries Regression analysis Risk Factors Survival Analysis Sweden |
| title | Common genetic variability in ESR1 and EGF in relation to endometrial cancer risk and survival |
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