2026-05-22T08:20:53Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/148682024-10-31T11:46:25Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19608
Repisalud author Chen, Hongjie author Fan, Shaoqi author Stone, Jennifer author Thompson, Deborah J author Douglas, Julie author Li, Shuai author Scott, Christopher author Bolla, Manjeet K author Wang, Qin author Dennis, Joe author Michailidou, Kyriaki author Li, Christopher author Peters, Ulrike author Hopper, John L author Southey, Melissa C author Nguyen-Dumont, Tu author Nguyen, Tuong L author Fasching, Peter A author Behrens, Annika author Cadby, Gemma author Murphy, Rachel A author Aronson, Kristan author Howell, Anthony author Astley, Susan author Couch, Fergus author Olson, Janet author Milne, Roger L author Giles, Graham G author Haiman, Christopher A author Maskarinec, Gertraud author Winham, Stacey author John, Esther M author Kurian, Allison author Eliassen, Heather author Andrulis, Irene author Evans, D Gareth author Newman, William G author Hall, Per author Czene, Kamila author Swerdlow, Anthony author Jones, Michael author Pollan-Santamaria, Marina author Fernandez-Navarro, Pablo L author McConnell, Daniel S author Kristensen, Vessela N author Rothstein, Joseph H author Wang, Pei author Habel, Laurel A author Sieh, Weiva author Dunning, Alison M author Pharoah, Paul D P author Easton, Douglas F author Gierach, Gretchen L author Tamimi, Rulla M author Vachon, Celine M author Lindström, Sara funder Unión Europea. Comisión Europea. H2020 funder Canadian Institutes of Health Research funder Quebec Breast Cancer Foundation funder Government of Quebec (Canadá) funder National Institutes of Health (Estados Unidos) funder Unión Europea. Comisión Europea. 7 Programa Marco funder Cancer Research UK (Reino Unido) funder Susan G. Komen Breast Cancer Foundation funder Ovarian Cancer Research Foundation (Astrualia) funder Australian Breast Cancer Family Study funder NIH - National Cancer Institute (NCI) (Estados Unidos) funder National Health and Medical Research Council (Australia) funder New South Wales Cancer Council (Reino Unido) funder Victorian Cancer Agency funder National Breast Cancer Foundation (Australia) funder Cancer Australia funder Universitätsklinikum Erlangen (Alemania) funder Consorcio Gallego de Cáncer de Mama (BREOGAN) funder Instituto de Salud Carlos III funder Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) funder Galicia Sur Biomedical Foundation funder Xunta de Galicia (España) funder Ministerio de Sanidad, Servicios Sociales e Igualdad (España) funder Ministerio de Economía y Competitividad (España) funder Canadian Cancer Society funder NIHR - Manchester Biomedical Research Centre (Reino Unido) funder Cancer Council New South Wales (Australia) funder Cancer Council Victoria (Australia) funder Cancer Council Tasmania (Australia) funder Cancer Council South (Australia) funder Cancer Council Western Australia (Australia) funder United States Army Medical Research and Development Command funder Cancer Council Queensland (Australia) funder NIH - NCI-Specialized Programs of Research Excellence (SPORE) in Breast Cancer (Estados Unidos) funder Victorian Health Promotion Foundation funder The Research Council of Norway (Noruega) funder Southern and Eastern Norway Regional Health Authority funder Norwegian Cancer Society funder Agency for Science, Technology and Research (Singapur) funder Institute of Cancer Research (Reino Unido) funder NIHR - Manchester Biomedical Research Centre (Reino Unido) 2022-08-05T11:01:17Z 2022-08-05T11:01:17Z 2022-04-12 Breast Cancer Res. 2022 Apr 12;24(1):27. 10.1186/s13058-022-01524-0 1465-542X Breast Cancer Research : BCR 35414113 http://hdl.handle.net/20.500.12105/14868 Background: Mammographic density (MD) phenotypes, including percent density (PMD), area of dense tissue (DA), and area of non-dense tissue (NDA), are associated with breast cancer risk. Twin studies suggest that MD phenotypes are highly heritable. However, only a small proportion of their variance is explained by identified genetic variants. Methods: We conducted a genome-wide association study, as well as a transcriptome-wide association study (TWAS), of age- and BMI-adjusted DA, NDA, and PMD in up to 27,900 European-ancestry women from the MODE/BCAC consortia. Results: We identified 28 genome-wide significant loci for MD phenotypes, including nine novel signals (5q11.2, 5q14.1, 5q31.1, 5q33.3, 5q35.1, 7p11.2, 8q24.13, 12p11.2, 16q12.2). Further, 45% of all known breast cancer SNPs were associated with at least one MD phenotype at p < 0.05. TWAS further identified two novel genes (SHOX2 and CRISPLD2) whose genetically predicted expression was significantly associated with MD phenotypes. Conclusions: Our findings provided novel insight into the genetic background of MD phenotypes, and further demonstrated their shared genetic basis with breast cancer. eng Breast cancer Genome-wide association study (GWAS) Mammographic density Transcriptome-wide association study (TWAS) Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci journal article TElDRU5DSUEgREUgRElTVFJJQlVDScOTTiBOTyBFWENMVVNJVkEKCkFjZXB0YW5kbyBlc3RhIGxpY2VuY2lhLCBVc3RlZCAoZWwgYXV0b3IvZXMgbyBlbCBwcm9waWV0YXJpby9zIGRlIGxvcyBkZXJlY2hvcyBkZSAKYXV0b3IpIGNvbmNlZGUgYSBSRVBJU0FMVUQgZWwgZGVyZWNobyBubyBleGNsdXNpdm8gZGUgcmVwcm9kdWNpciwgY29udmVydGlyLCB5L28gCmRpc3RyaWJ1aXIgc3UgZG9jdW1lbnRvIChpbmNsdXllbmRvIHN1IHJlc3VtZW4pIGEgbml2ZWwgbXVuZGlhbCBlbiBmb3JtYXRvIGRpZ2l0YWwsIAppbmNsdXllbmRvLCBhdWRpbyB5IHbDrWRlbywgYSB0cmF2w6lzIGRlIHN1IHJlcG9zaXRvcmlvIGluc3RpdHVjaW9uYWwuCgpVc3RlZCBhY2VwdGEgcXVlIFJFUElTQUxVRCBwdWVkZSwgc2luIGFsdGVyYXIgc3UgY29udGVuaWRvLCBjb252ZXJ0aXIgc3UgZG9jdW1lbnRvIAphIGN1YWxxdWllciBvdHJvIGZvcm1hdG8gZGlnaXRhbCBkZSBkYXRvcywgYXVkaW8geSB2aWRlbywgY29uIGVsIHByb3DDs3NpdG8gZGUgcXVlIApwdWVkYSBzZXIgYWxvamFkbyBlbiBlbCByZXBvc2l0b3Jpby4gCgpVc3RlZCBlc3TDoSBkZSBhY3VlcmRvIGNvbiBxdWUgUkVQSVNBTFVEIHB1ZWRhIGNvbnNlcnZhciBtw6FzIGRlIHVuYSBjb3BpYSBkZSBlc3RlIApkb2N1bWVudG8gcGFyYSBhc2VndXJhciBzdSBzZWd1cmlkYWQsIHByZXNlcnZhY2nDs24geSBhY2Nlc28uCgpVc3RlZCBkZWNsYXJhIHF1ZSBlbCBkb2N1bWVudG8gZXMgdW4gdHJhYmFqbyBvcmlnaW5hbCwgeSBxdWUgdGllbmUgZWwgZGVyZWNobyBkZSAKb3RvcmdhciBsb3MgZGVyZWNob3MgY29udGVuaWRvcyBlbiBlc3RhIGxpY2VuY2lhLiBUYW1iacOpbiBkZWNsYXJhIHF1ZSBzdSBwZXRpY2nDs24gCm5vIGluZnJpbmdlIGxvcyBkZXJlY2hvcyBkZSBhdXRvciBkZSBuYWRpZS4gCgpTaSBlbCBkb2N1bWVudG8gY29udGllbmUgbWF0ZXJpYWxlcyBwYXJhIGxvcyBxdWUgbm8gc2UgdGllbmVuIGxvcyBkZXJlY2hvcyBkZSBhdXRvciwgClVzdGVkIGRlY2xhcmEgcXVlIGhhIG9idGVuaWRvIGVsIHBlcm1pc28gc2luIHJlc3RyaWNjacOzbiBkZWwgcHJvcGlldGFyaW8gZGUgbG9zIApkZXJlY2hvcyB5IHF1ZSBlbiBkaWNobyBtYXRlcmlhbCwgZXN0w6EgY2xhcmFtZW50ZSBpZGVudGlmaWNhZGEgeSByZWNvbm9jaWRhIHN1IAphdXRvcsOtYSBkZW50cm8gZWwgdGV4dG8gbyBkZWwgY29udGVuaWRvIGRlIGRpY2hvIGRvY3VtZW50by4gCgpTaSBlbCBlbnbDrW8gc2UgYmFzYSBlbiB1biB0cmFiYWpvIHF1ZSBoYSBzaWRvIHBhdHJvY2luYWRvIG8gYXBveWFkbyBwb3IgdW5hIGFnZW5jaWEgCnUgb3JnYW5pemFjacOzbiBkaXN0aW50YSBhIFJFUElTQUxVRCwgdXN0ZWQgYWNlcHRhIHF1ZSBoYSBjdW1wbGlkbyBjb24gZWwgZGVyZWNobyBkZSAKcmV2aXNpw7NuIHkgb3RyYXMgb2JsaWdhY2lvbmVzIHJlcXVlcmlkYXMgcG9yIGNvbnRyYXRvIG8gYWN1ZXJkby4gCgpSRVBJU0FMVUQgaWRlbnRpZmljYXLDoSBjbGFyYW1lbnRlIHN1KHMpIG5vbWJyZShzKSBjb21vIGF1dG9yKHMpIG8gcHJvcGlldGFyaW8ocykgCmRlbCBkb2N1bWVudG8sIHkgbm8gaGFyw6EgbmluZ3VuYSBhbHRlcmFjacOzbiwgZXhjZXB0byBzZWfDum4gbG8gcGVybWl0aWRvIHBvciBlc3RhIApsaWNlbmNpYS4gCg== URL https://repisalud.isciii.es/bitstreams/49808e61-d15e-46fe-bc3a-122ab5b443f0/download File MD5 1e7be42a1478eb5074f7a65a3ad1dd49 1706679 application/pdf GenomeWideAndTranscriptome_2022.pdf URL https://repisalud.isciii.es/bitstreams/733165e3-86e5-4476-8e42-59cf451a469a/download File MD5 beb1a6f499337aeafea22cca12f598fc 10101360 application/pdf GenomeWideAndTranscriptomeAdditionalFile1_2022.pdf URL https://repisalud.isciii.es/bitstreams/0a9908fa-211d-4794-9e71-7bf490313541/download File MD5 74f70125c7284b8f56624dc8d464c529 3584733 application/vnd.openxmlformats-officedocument.spreadsheetml.sheet GenomeWideAndTranscriptomeAdditionalFile2_2022.xlsx URL https://repisalud.isciii.es/bitstreams/d0412fb7-5fb8-482e-b429-06af2abd0bea/download File MD5 205fcb40fcc4f221a0b069e4418e9af3 63985 text/plain GenomeWideAndTranscriptome_2022.pdf.txt URL https://repisalud.isciii.es/bitstreams/b9164e96-0b83-4f45-8cc1-7f472f238f46/download File MD5 97abd466e4dbdc73484455acaf893721 70572 text/plain GenomeWideAndTranscriptomeAdditionalFile1_2022.pdf.txt URL https://repisalud.isciii.es/bitstreams/bd30493b-2536-4306-aca5-da4d76230368/download File MD5 19a912ca2ea5145c97fe3cbacbe8bf8f 100006 text/plain GenomeWideAndTranscriptomeAdditionalFile2_2022.xlsx.txt