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oai:repisalud.isciii.es:20.500.12105/78762024-11-29T23:35:28Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud author Lawrenson, Kate author Kar, Siddhartha author McCue, Karen author Kuchenbaeker, Karoline B author Michailidou, Kyriaki author Tyrer, Jonathan author Beesley, Jonathan author Ramus, Susan J author Li, Qiyuan author Delgado, Melissa K author Lee, Janet M author Aittomäki, Kristiina author Andrulis, Irene L author Anton-Culver, Hoda author Arndt, Volker author Arun, Banu K author Arver, Brita author Bandera, Elisa V author Barile, Monica author Barkardottir, Rosa B author Barrowdale, Daniel author Beckmann, Matthias W author Benitez, Javier author Berchuck, Andrew author Bisogna, Maria author Bjorge, Line author Blomqvist, Carl author Blot, William author Bogdanova, Natalia author Bojesen, Anders author Bojesen, Stig E author Bolla, Manjeet K author Bonanni, Bernardo author Børresen-Dale, Anne-Lise author Brauch, Hiltrud author Brennan, Paul author Brenner, Hermann author Bruinsma, Fiona author Brunet, Joan author Buhari, Shaik Ahmad author Burwinkel, Barbara author Butzow, Ralf author Buys, Saundra S author Cai, Qiuyin author Caldes, Trinidad author Campbell, Ian author Canniotto, Rikki author Chang-Claude, Jenny author Chiquette, Jocelyne author Choi, Ji-Yeob author Claes, Kathleen B M author Cook, Linda S author Cox, Angela author Cramer, Daniel W author Cross, Simon S author Cybulski, Cezary author Czene, Kamila author Daly, Mary B author Damiola, Francesca author Dansonka-Mieszkowska, Agnieszka author Darabi, Hatef author Dennis, Joe author Devilee, Peter author Diez, Orland author Doherty, Jennifer A author Domchek, Susan M author Dorfling, Cecilia M author Dörk, Thilo author Dumont, Martine author Ehrencrona, Hans author Ejlertsen, Bent author Ellis, Steve author Engel, Christoph author Lee, Eunjung author Evans, D Gareth author Fasching, Peter A author Feliubadalo, Lidia author Figueroa, Jonine author Flesch-Janys, Dieter author Fletcher, Olivia author Flyger, Henrik author Foretova, Lenka author Fostira, Florentia author Foulkes, William D author Fridley, Brooke L author Friedman, Eitan author Frost, Debra author Gambino, Gaetana author Ganz, Patricia A author Garber, Judy author García-Closas, Montserrat author Gentry-Maharaj, Aleksandra author Ghoussaini, Maya author Giles, Graham G author Glasspool, Rosalind author Godwin, Andrew K author Goldberg, Mark S author Goldgar, David E author González-Neira A, Anna author Goode, Ellen L author Goodman, Marc T author Greene, Mark H author Gronwald, Jacek author Guénel, Pascal author Haiman, Christopher A author Hall, Per author Hallberg, Emily author Hamann, Ute author Hansen, Thomas V O author Harrington, Patricia A author Hartman, Mikael author Hassan, Norhashimah author Healey, Sue author Heitz, Florian author Herzog, Josef author Høgdall, Estrid author Høgdall, Claus K author Hogervorst, Frans B L author Hollestelle, Antoinette author Hopper, John L author Hulick, Peter J author Huzarski, Tomasz author Imyanitov, Evgeny N author Isaacs, Claudine author Ito, Hidemi author Jakubowska, Anna author Janavicius, Ramunas author Jensen, Allan author John, Esther M author Johnson, Nichola author Kabisch, Maria author Kang, Daehee author Kapuscinski, Miroslav author Karlan, Beth Y author Khan, Sofia author Kiemeney, Lambertus A author Kjaer, Susanne Kruger author Knight, Julia A author Konstantopoulou, Irene author Kosma, Veli-Matti author Kristensen, Vessela author Kupryjanczyk, Jolanta author Kwong, Ava author de la Hoya, Miguel author Laitman, Yael author Lambrechts, Diether author Le, Nhu author De Leeneer, Kim author Lester, Jenny author Levine, Douglas A author Li, Jingmei author Lindblom, Annika author Long, Jirong author Lophatananon, Artitaya author Loud, Jennifer T author Lu, Karen author Lubinski, Jan author Mannermaa, Arto author Manoukian, Siranoush author Le Marchand, Loic author Margolin, Sara author Marme, Frederik author Massuger, Leon F A G author Matsuo, Keitaro author Mazoyer, Sylvie author McGuffog, Lesley author McLean, Catriona author McNeish, Iain author Meindl, Alfons author Menon, Usha author Mensenkamp, Arjen R author Milne, Roger L author Montagna, Marco author Moysich, Kirsten B author Muir, Kenneth author Mulligan, Anna Marie author Nathanson, Katherine L author Ness, Roberta B author Neuhausen, Susan L author Nevanlinna, Heli author Nord, Silje author Nussbaum, Robert L author Odunsi, Kunle author Offit, Kenneth author Olah, Edith author Olopade, Olufunmilayo I author Olson, Janet E author Olswold, Curtis author O'Malley, David author Orlow, Irene author Orr, Nick author Osorio, Ana author Park, Sue Kyung author Pearce, Celeste L author Pejovic, Tanja author Peterlongo, Paolo author Pfeiler, Georg author Phelan, Catherine M author Poole, Elizabeth M author Pylkäs, Katri author Radice, Paolo author Rantala, Johanna author Rashid, Muhammad Usman author Rennert, Gad author Rhenius, Valerie author Rhiem, Kerstin author Risch, Harvey A author Rodriguez, Gus author Rossing, Mary Anne author Rudolph, Anja author Salvesen, Helga B author Sangrajrang, Suleeporn author Sawyer, Elinor J author Schildkraut, Joellen M author Schmidt, Marjanka K author Schmutzler, Rita K author Sellers, Thomas A author Seynaeve, Caroline author Shah, Mitul author Shen, Chen-Yang author Shu, Xiao-Ou author Sieh, Weiva author Singer, Christian F author Sinilnikova, Olga M author Slager, Susan author Song, Honglin author Soucy, Penny author Southey, Melissa C author Stenmark-Askmalm, Marie author Stoppa-Lyonnet, Dominique author Sutter, Christian author Swerdlow, Anthony author Tchatchou, Sandrine author Teixeira, Manuel R author Teo, Soo H author Terry, Kathryn L author Terry, Mary Beth author Thomassen, Mads author Tibiletti, Maria Grazia author Tihomirova, Laima author Tognazzo, Silvia author Toland, Amanda Ewart author Tomlinson, Ian author Torres, Diana author Truong, Thérèse author Tseng, Chiu-Chen author Tung, Nadine author Tworoger, Shelley S author Vachon, Celine author van den Ouweland, Ans M W author van Doorn, Helena C author van Rensburg, Elizabeth J author Van't Veer, Laura J author Vanderstichele, Adriaan author Vergote, Ignace author Vijai, Joseph author Wang, Qin author Wang-Gohrke, Shan author Weitzel, Jeffrey N author Wentzensen, Nicolas author Whittemore, Alice S author Wildiers, Hans author Winqvist, Robert author Wu, Anna H author Yannoukakos, Drakoulis author Yoon, Sook-Yee author Yu, Jyh-Cherng author Zheng, Wei author Zheng, Ying author Khanna, Kum Kum author Simard, Jacques author Monteiro, Alvaro N author French, Juliet D author Couch, Fergus J author Freedman, Matthew L author Easton, Douglas F author Dunning, Alison M author Pharoah, Paul D author Edwards, Stacey L author Chenevix-Trench, Georgia author Antoniou, Antonis C author Gayther, Simon A funder NIH - National Cancer Institute (NCI) (Estados Unidos) funder National Health and Medical Research Council (Australia) funder Victorian Health Promotion Foundation funder Dutch Cancer Society (Holanda) funder Breast Cancer Research Trust funder Lon V. Smith Foundation funder Federal Ministry of Education & Research (Alemania) funder California Breast Cancer Research Program funder German Cancer Aid funder Ministère de Économie, Innovation et Exportation (Canadá) funder Ministry of Higher Education (Malasia) funder National Medical Research Council (Singapur) funder Finlands Akademi (Finlandia) funder University of Oulu (Finlandia) funder Yorkshire Cancer Research funder Hellenic Cooperative Oncology Group funder California Cancer Research Program funder Canadian Institutes of Health Research funder Danish Cancer Society funder Ministry of Science and Higher Education (Polonia) funder United States Army Medical Research and Development Command funder Asociación Española Contra el Cáncer funder University of Kansas. Cancer Center (Estados Unidos) funder Hungarian Research Grants funder Instituto de Salud Carlos III funder Norwegian EEA Financial Mechanism funder Canadian Breast Cancer Network funder NIH - National Cancer Institute (NCI). Specialized Programs of Research Excellence (SPOREs) (Estados Unidos) funder Congressionally Directed Medical Research Programs (Estados Unidos) funder NRG Oncology National (Estados Unidos) funder Unión Europea. Comisión Europea. 7 Programa Marco 2019-07-09T11:41:22Z 2019-07-09T11:41:22Z 2016 Nat Commun. 2016;7:12675. 10.1038/ncomms12675 2041-1723 2041-1723 Nature communications 27601076 http://hdl.handle.net/20.500.12105/7876 A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3)). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3'-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk. eng Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus journal article 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 URL https://repisalud.isciii.es/bitstreams/c367e6d1-1291-412d-b996-d1ea86ffea37/download File MD5 c7d494c8280adfd7de3484e17f092440 1582960 application/pdf Functionalmechanismsunderlyingpleiotropic_2016.pdf URL https://repisalud.isciii.es/bitstreams/9dc43aae-e386-4fe5-b7c9-697ce79487ff/download File MD5 ec434a24980ed90a093ea667f30e2fc5 11479 application/vnd.openxmlformats-officedocument.spreadsheetml.sheet Functionalmechanismsunderlyingpleiotropic_2016_table1.xlsx URL https://repisalud.isciii.es/bitstreams/a0ac02b4-d522-4c2a-9c26-8061d88543af/download File MD5 86b34423aafbb7d5b1f101d46c6b3518 10126 application/vnd.openxmlformats-officedocument.spreadsheetml.sheet Functionalmechanismsunderlyingpleiotropic_table2_2016.xlsx URL https://repisalud.isciii.es/bitstreams/43ca7598-8f35-4e98-9688-9826e8db4abd/download File MD5 3824c315cde0d5c60e049dcbd45a4807 8856 application/vnd.openxmlformats-officedocument.spreadsheetml.sheet Functionalmechanismsunderlyingpleiotropic_2016_table3.xlsx URL https://repisalud.isciii.es/bitstreams/6f680760-e069-4909-8b71-cc4a349a88e5/download File MD5 78d3c04ccf1add59b9214f86be918aa2 168916 text/plain Functionalmechanismsunderlyingpleiotropic_2016.pdf.txt URL https://repisalud.isciii.es/bitstreams/4275a4a9-7cc1-4476-9125-c68cef5d9b84/download File MD5 b376a2fa48549c8393166d3318cd7afb 3843 text/plain Functionalmechanismsunderlyingpleiotropic_2016_table1.xlsx.txt URL https://repisalud.isciii.es/bitstreams/cc783208-8137-4825-a99b-3358a85ff510/download File MD5 38b865de5b3bd50489ffb59cbab19392 1418 text/plain Functionalmechanismsunderlyingpleiotropic_table2_2016.xlsx.txt URL https://repisalud.isciii.es/bitstreams/fe06a7a0-05db-4bfe-8b28-209d1e47353e/download File MD5 94da54549798496d7affd8b7eaf742b1 511 text/plain Functionalmechanismsunderlyingpleiotropic_2016_table3.xlsx.txt