2026-06-14T05:06:57Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/84852024-11-29T21:40:06Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud author Hamdi, Yosr author Soucy, Penny author Kuchenbaeker, Karoline B author Pastinen, Tomi author Droit, Arnaud author Lemaçon, Audrey author Adlard, Julian author Aittomäki, Kristiina author Andrulis, Irene L author Arason, Adalgeir author Arnold, Norbert author Arun, Banu K author Azzollini, Jacopo author Bane, Anita author Barjhoux, Laure author Barrowdale, Daniel author Benitez, Javier author Berthet, Pascaline author Blok, Marinus J author Bobolis, Kristie author Bonadona, Valérie author Bonanni, Bernardo author Bradbury, Angela R author Brewer, Carole author Buecher, Bruno author Buys, Saundra S author Caligo, Maria A author Chiquette, Jocelyne author Chung, Wendy K author Claes, Kathleen B M author Daly, Mary B author Damiola, Francesca author Davidson, Rosemarie author De la Hoya, Miguel author De Leeneer, Kim author Diez, Orland author Ding, Yuan Chun author Dolcetti, Riccardo author Domchek, Susan M author Dorfling, Cecilia M author Eccles, Diana author Eeles, Ros author Einbeigi, Zakaria author Ejlertsen, Bent author Engel, Christoph author Gareth Evans, D author Feliubadalo, Lidia author Foretova, Lenka author Fostira, Florentia author Foulkes, William D author Fountzilas, George author Friedman, Eitan author Frost, Debra author Ganschow, Pamela author Ganz, Patricia A author Garber, Judy author Gayther, Simon A author Gerdes, Anne-Marie author Glendon, Gord author Godwin, Andrew K author Goldgar, David E author Greene, Mark H author Gronwald, Jacek author Hahnen, Eric author Hamann, Ute author Hansen, Thomas V O author Hart, Steven author Hays, John L author Hogervorst, Frans B L author Hulick, Peter J author Imyanitov, Evgeny N author Isaacs, Claudine author Izatt, Louise author Jakubowska, Anna author James, Paul author Janavicius, Ramunas author Jensen, Uffe Birk author John, Esther M author Joseph, Vijai author Just, Walter author Kaczmarek, Katarzyna author Karlan, Beth Y author Kets, Carolien M author Kirk, Judy author Kriege, Mieke author Laitman, Yael author Laurent, Maïté author Lazaro, Conxi author Leslie, Goska author Lester, Jenny author Lesueur, Fabienne author Liljegren, Annelie author Loman, Niklas author Loud, Jennifer T author Manoukian, Siranoush author Mariani, Milena author Mazoyer, Sylvie author McGuffog, Lesley author Meijers-Heijboer, Hanne E J author Meindl, Alfons author Miller, Austin author Montagna, Marco author Mulligan, Anna Marie author Nathanson, Katherine L author Neuhausen, Susan L author Nevanlinna, Heli author Nussbaum, Robert L author Olah, Edith author Olopade, Olufunmilayo I author Ong, Kai-Ren author Oosterwijk, Jan C author Osorio, Ana author Papi, Laura author Park, Sue Kyung author Pedersen, Inge Sokilde author Peissel, Bernard author Segura, Pedro Perez author Peterlongo, Paolo author Phelan, Catherine M author Radice, Paolo author Rantala, Johanna author Rappaport-Fuerhauser, Christine author Rennert, Gad author Richardson, Andrea author Robson, Mark author Rodriguez, Gustavo C author Rookus, Matti A author Schmutzler, Rita Katharina author Sevenet, Nicolas author Shah, Payal D author Singer, Christian F author Slavin, Thomas P author Snape, Katie author Sokolowska, Johanna author Sønderstrup, Ida Marie Heeholm author Southey, Melissa author Spurdle, Amanda B author Stadler, Zsofia author Stoppa-Lyonnet, Dominique author Sukiennicki, Grzegorz author Sutter, Christian author Tan, Yen author Tea, Muy-Kheng author Teixeira, Manuel R author Teulé, Alex author Teo, Soo-Hwang author Terry, Mary Beth author Thomassen, Mads author Tihomirova, Laima author Tischkowitz, Marc author Tognazzo, Silvia author Toland, Amanda Ewart author Tung, Nadine author van den Ouweland, Ans M W author van der Luijt, Rob B author van Engelen, Klaartje author van Rensburg, Elizabeth J author Varon-Mateeva, Raymonda author Wappenschmidt, Barbara author Wijnen, Juul T author Rebbeck, Timothy author Chenevix-Trench, Georgia author Offit, Kenneth author Couch, Fergus J author Nord, Silje author Easton, Douglas F author Antoniou, Antonis C author Simard, Jacques funder Unión Europea. Comisión Europea. European Research Council (ERC) funder Cancer Research UK (Reino Unido) funder Post-cancer GWAS Initiative funder United States Department of Defense funder Research Council (Lituania) funder Asociación Española Contra el Cáncer funder Red Temática de Investigación Cooperativa en Cáncer (RTICC) (España) funder Fondation ARC pour la recherche sur le cancer funder Canadian Institutes of Health Research funder Ministère de Économie, Innovation et Exportation (Canadá) funder University of Kansas. Cancer Center (Estados Unidos) funder Deutsche Krebshilfe funder Leipzig Research Centre for Civilization Diseases funder NIH - National Cancer Institute (NCI) (Estados Unidos) funder Instituto de Salud Carlos III funder Finlands Akademi (Finlandia) funder Dutch Cancer Society (Holanda) funder Dutch Research Council (Holanda) funder Pink Ribbons Project funder Biobanking and BioMolecular resources Research Infrastructure (Países Bajos) funder Unión Europea. Comisión Europea. TRANSCAN funder Hungarian Research Grants funder Government of Catalonia (España) funder Ministry of Health and Welfare (Corea del Sur) funder United States Department of Health and Human Services funder State Budget of the Czech Republic (RECAMO) funder Charles University (República Checa) funder Westat (Estados Unidos) funder Russian Foundation for Basic Research funder GOG Foundation. Gynecologic Oncology Group funder Italian Association for Cancer Research 2019-10-08T10:28:42Z 2019-10-08T10:28:42Z 2017-01 Breast Cancer Res Treat. 2017 Jan;161(1):117-134 10.1007/s10549-016-4018-2 1573-7217 0167-6806 Breast cancer research and treatment 27796716 http://hdl.handle.net/20.500.12105/8485 PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. METHODS: Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2. RESULTS: We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10-6). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance. CONCLUSION: We identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk. eng BRCA1 and BRCA2 mutation carriers Breast cancer Cis-regulatory variants Differential allelic expression Genetic modifiers Genetic susceptibility Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3 journal article 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 URL https://repisalud.isciii.es/bitstreams/4798d53f-2c79-42ee-a571-f41b2f7a1ac2/download File MD5 62924ef7df6a36ff81fbce3fc8a0426c 1079091 application/pdf Associationofbreastcancerriskin_2017.pdf URL https://repisalud.isciii.es/bitstreams/3f6f0e95-5f7b-4589-a4f6-9a1b55f1a87f/download File MD5 601ebdc0b98d605e4862a18343ef641f 88681 text/plain Associationofbreastcancerriskin_2017.pdf.txt