{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T19:37:45Z","timestamp":1767987465610,"version":"3.49.0"},"reference-count":44,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,11,10]],"date-time":"2014-11-10T00:00:00Z","timestamp":1415577600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Agreement Astra-Zeneca & Carlos III Institute of Health (Instituto de Salud Carlos III)","award":["EPY 1306\/06"],"award-info":[{"award-number":["EPY 1306\/06"]}]},{"name":"Spain\u00e2\u20ac\u2122s Health Research Fund","award":["PI060386"],"award-info":[{"award-number":["PI060386"]}]},{"name":"Spain\u00e2\u20ac\u2122s Health Research Fund","award":["PIS09\/01006"],"award-info":[{"award-number":["PIS09\/01006"]}]},{"name":"Spanish Federation of Breast Cancer Patients (FECMA)","award":["EPY 1170-10"],"award-info":[{"award-number":["EPY 1170-10"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2015,5,15]]},"abstract":"<jats:p>Mammographic density (MD) is an intermediate phenotype for breast cancer. Previous studies have identified genetic variants associated with MD; however, much of the genetic contribution to MD is unexplained. We conducted a two\u2010stage genome\u2010wide association analysis among the participants in the \u201cDeterminants of Density in Mammographies in Spain\u201d study, together with a replication analysis in women from the Australian MD Twins and Sisters Study. Our discovery set covered a total of 3,351 Caucasian women aged 45 to 68 years, recruited from Spanish breast cancer screening centres. MD was blindly assessed by a single reader using Boyd's scale. A two\u2010stage approach was employed, including a feature selection phase exploring 575,374 SNPs in 239 pairs of women with extreme phenotypes and a verification stage for the 183 selected SNPs in the remaining sample (2,873 women). Replication was conducted in 1,786 women aged 40 to 70 years old recruited <jats:italic>via<\/jats:italic> the Australian Twin Registry, where MD were measured using Cumulus\u20103.0, assessing 14 SNPs with a <jats:italic>p<\/jats:italic> value &lt;0.10 in stage 2. Finally, two genetic variants in high linkage disequilibrium with our best hit were studied using the whole Spanish sample. Evidence of association with MD was found for variant rs11205277 (OR\u2009=\u20090.74; 95% CI\u2009=\u20090.67\u20130.81; <jats:italic>p<\/jats:italic>\u2009=\u20091.33 \u00d7 10<jats:sup>\u221210<\/jats:sup>). In replication analysis, only a marginal association between this SNP and absolute dense area was found. There were also evidence of association between MD and SNPs in high linkage disequilibrium with rs11205277, rs11205303 in gene <jats:italic>MTMR11<\/jats:italic> (OR\u2009=\u20090.73; 95% CI\u2009=\u20090.66\u20130.80; <jats:italic>p<\/jats:italic>\u2009=\u20092.64 \u00d7 10<jats:sup>\u221211<\/jats:sup>) and rs67807996 in gene <jats:italic>OTUD7B<\/jats:italic> (OR\u2009=\u20090.72; 95% CI\u2009=\u20090.66\u20130.80; <jats:italic>p<\/jats:italic>\u2009=\u20092.03 \u00d7 10<jats:sup>\u221211<\/jats:sup>). Our findings provide additional evidence on common genetic variations that may contribute to MD.<\/jats:p>","DOI":"10.1002\/ijc.29299","type":"journal-article","created":{"date-parts":[[2014,10,29]],"date-time":"2014-10-29T09:37:14Z","timestamp":1414575434000},"page":"2427-2436","source":"Crossref","is-referenced-by-count":20,"title":["Genome wide association study identifies a novel putative mammographic density locus at 1q12\u2010q21"],"prefix":"10.1002","volume":"136","author":[{"given":"Pablo","family":"Fernandez\u2010Navarro","sequence":"first","affiliation":[{"name":"Cancer and Environmental Epidemiology Unit National Center for Epidemiology, Carlos III Institute of Health Madrid Spain"},{"name":"Consortium for Biomedical Research in Epidemiology &amp; Public Health (CIBER en Epidemiolog\u00eda y Salud P\u00fablica\u2014CIBERESP)  Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Gonz\u00e1lez\u2010Neira","sequence":"additional","affiliation":[{"name":"Human Genotyping Unit\u2010CeGen Spanish National Cancer Research Centre Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillermo","family":"Pita","sequence":"additional","affiliation":[{"name":"Human Genotyping Unit\u2010CeGen Spanish National Cancer Research Centre Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ram\u00f3n","family":"D\u00edaz\u2010Uriarte","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Universidad Aut\u00f3noma de Madrid, Instituto de Investigaciones Biom\u00e9dicas \u201cAlberto Sols\u201d (UAM\u2010CSIC) Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leticia","family":"Tais Moreno","sequence":"additional","affiliation":[{"name":"Human Genotyping Unit\u2010CeGen Spanish National Cancer Research Centre Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Ederra","sequence":"additional","affiliation":[{"name":"Consortium for Biomedical Research in Epidemiology &amp; Public Health (CIBER en Epidemiolog\u00eda y Salud P\u00fablica\u2014CIBERESP)  Spain"},{"name":"Navarre Breast Cancer Screening Programme Public Health Institute Pamplona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Pedraz\u2010Pingarr\u00f3n","sequence":"additional","affiliation":[{"name":"Castilla\u2010Leon Breast Cancer Screening Programme D.G. Salud P\u00fablica ID e I, Castilla y Le\u00f3n Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"S\u00e1nchez\u2010Contador","sequence":"additional","affiliation":[{"name":"Balearic Islands Breast Cancer Screening Programme Health Promotion for Women and Childhood, General Directorate Public Health and Participation, Regional Authority of Health and Consumer Affairs Balearic Islands Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose Antonio","family":"V\u00e1zquez\u2010Carrete","sequence":"additional","affiliation":[{"name":"Galicia Breast Cancer Screening Programme  Regional Authority of Health, Galicia Regional Government A Coruna Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pilar","family":"Moreo","sequence":"additional","affiliation":[{"name":"Aragon Breast Cancer Screening Programme Health Service of Aragon Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Vidal","sequence":"additional","affiliation":[{"name":"Cancer Prevention and Control Unit Catalan Institute of Oncology (ICO) Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dolores","family":"Salas\u2010Trejo","sequence":"additional","affiliation":[{"name":"Valencia Breast Cancer Screening Programme Directorate Public Health &amp; Centre for Public Health Research (CSISP) Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Stone","sequence":"additional","affiliation":[{"name":"Centre for Genetic Origins of Health and Disease (GOHaD) Faculty of Medicine Dentistry and Health Sciences, University of Western Australia Perth Western Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa C.","family":"Southey","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Melbourne Melbourne Victoria Australia"},{"name":"Melbourne Collaborative Cohort Study (MCCS)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John L.","family":"Hopper","sequence":"additional","affiliation":[{"name":"School of Population Health Centre for Molecular Environmental Genetic and Analytic Epidemiology University of Melbourne Melbourne Victoria Australia"},{"name":"Department of Health Science and Services School of Public Health Seoul National University Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz","family":"P\u00e9rez\u2010G\u00f3mez","sequence":"additional","affiliation":[{"name":"Cancer and Environmental Epidemiology Unit National Center for Epidemiology, Carlos III Institute of Health Madrid Spain"},{"name":"Consortium for Biomedical Research in Epidemiology &amp; Public Health (CIBER en Epidemiolog\u00eda y Salud P\u00fablica\u2014CIBERESP)  Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Benitez","sequence":"additional","affiliation":[{"name":"Human Genotyping Unit\u2010CeGen Spanish National Cancer Research Centre Madrid Spain"},{"name":"Human Genetics Group Spanish National Cancer Research Centre (Centro Nacional de Investigaciones Oncol\u00f3gicas\u2014CNIO) Madrid Spain"},{"name":"Consortium for Biomedical Research in Rare Diseases (Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras\u2014CIBERER), Spanish National Cancer Research Centre Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Pollan","sequence":"additional","affiliation":[{"name":"Cancer and Environmental Epidemiology Unit National Center for Epidemiology, Carlos III Institute of Health Madrid Spain"},{"name":"Consortium for Biomedical Research in Epidemiology &amp; Public Health (CIBER en Epidemiolog\u00eda y Salud P\u00fablica\u2014CIBERESP)  Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,11,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(05)70390-9"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr2942"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1158\/1055-9965.EPI-05-0127"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-07-1076"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr2127"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr2229"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1158\/1055-9965.EPI-07-2749"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-09-3495"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2012.08.026"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr3337"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1158\/1055-9965.EPI-12-0066"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.760"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds158"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0006-341X.2002.00163.x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0006-341X.2004.00207.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-011-1664-2"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-011-1936-x"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-011-1414-5"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2407-10-485"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000130"},{"key":"e_1_2_7_22_1","unstructured":".R Core Team. R: a language and environment for statistical computing. Vienna Austria: R Foundation for Statistical Computing 2012. Available at:http:\/\/www.r\u2010project.org\/. Last accessed on May 30 2012."},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140315"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1370050611"},{"key":"e_1_2_7_25_1","doi-asserted-by":"crossref","first-page":"2938","DOI":"10.1093\/bioinformatics\/btn564","article-title":"SNAP: A web\u2010based tool for identification and annotation of proxy SNPs using HapMap","volume":"24","author":"AD Johnson","journal-title":"Bioinformatics"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.122"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-012-2108-3"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrclinonc.2011.173"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000409"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn405"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq091"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-96"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0962-8924(02)02412-1"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1285"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-12-0095"},{"key":"e_1_2_7_36_1","first-page":"361","article-title":"Expression profile of tyrosine phosphatases in HER2 breast cancer cells and tumors","volume":"32","author":"Lucci MA","year":"2010","journal-title":"Cell Oncol"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.147371"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2011.587"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001183"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.586"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1158\/1055-9965.EPI-11-0888"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1097\/gme.0b013e3182544925"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20628"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1177\/153303460400300611"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr3380"}],"container-title":["International Journal of Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fijc.29299","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijc.29299","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T17:14:59Z","timestamp":1696353299000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ijc.29299"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,10]]},"references-count":44,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2015,5,15]]}},"alternative-id":["10.1002\/ijc.29299"],"URL":"https:\/\/doi.org\/10.1002\/ijc.29299","archive":["Portico"],"relation":{},"ISSN":["0020-7136","1097-0215"],"issn-type":[{"value":"0020-7136","type":"print"},{"value":"1097-0215","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,10]]}}}