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2016-04-27

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cc by (c) Couch et al., 2016
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/126861

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

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https://doi.org/10.1038/ncomms11375

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Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.

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COUCH, Fergus j., KUCHENBAECKER, Karoline b., MICHAILIDOU, Kyriaki, MENDOZA-FANDINO, Gustavo a., NORD, Silje, LILYQUIST, Jenna, OLSWOLD, Curtis, HALLBERG, Emily, AGATA, Simona, AHSAN, Habibul, AITTOMÄKI, Kristiina, FLESCH-JANYS, Dieter, CARPENTER, Jane, TOMLINSON, Ian p., JAMES, Paul, TOLLENAAR, Raem, SWERDLOW, Anthony j., BOJESEN, Stig e., MCGUFFOG, Lesley, MIRON, Penelope, TRUONG, Thérèse, TOLAND, Amanda ewart, HENDERSON, Brian e., HOLLESTELLE, Antoinette, KNIGHT, Julia a., COX, Angela, BURWINKEL, Barbara, YANG, Xiaohong r, YANNOUKAKOS, Drakoulis, VARON-MATEEVA, Raymonda, LÁZARO GARCÍA, Conxi, HOONING, Maartje j., RUTGERS, Emiel j., DOMCHEK, Susan m., WANG-GOHRKE, Shan, LAMBRECHTS, Diether, WANG, Zhaoming, TSIMIKLIS, Helen, DALY, Mary b., ARVER, Brita, OLAH, Edith, SAWYER, Elinor j., KHAW, Kay-tee, LONG, Jirong, ECCLES, Diana, DÍEZ GIBERT, Orland, CHENEVIX-TRENCH, Georgia, PHAROAH, Paul d. p., YAO, Song, MARGOLIN, Sara, KIBRIYA, Muhammad g., ZHENG, Wei, MANOUKIAN, Siranoush, ZAMORA, M. pilar, BLANK, Stephanie v., AMBROSONE, Christine, CHANG-CLAUDE, Jenny, PHELAN, Catherine m., SZABO, Csilla i., BARROWDALE, Daniel, FROST, Debra, BOLLA, Manjeet k., BONANNI, Bernardo, HUNTER, David j., NATHANSON, Katherine l., LIU, Jianjun, GARCÍA CLOSAS, Montserrat, MURANEN, Taru a., MONTEIRO, Alvaro n., BUYS, Saundra s., DORFLING, Cecilia m., TEULÉ-VEGA, Àlex, CLAES, Kathleen b. m., GLENDON, Gord, DAMIOLA, Francesca, DARABI, Hatef, KOSMA, Veli-matti, PARK, Sue k., BRENNER, Hermann, OSORIO, Ana, BRAUCH, Hiltrud, RUDOLPH, Anja, WEITZEL, Jeffrey n., DUNNING, Alison m., HAEBERLE, Lothar, ELIASSEN, Heather, ELLIS, Steve, PYLKÄS, Katri, DEVILEE, Peter, POPPE, Bruce, HOYA, Miguel de la, BLOMQVIST, Carl, JAKUBOWSKA, Anna, HERZOG, Josef, GANZ, Patricia a., GAPSTUR, Susan m., FIGUEROA, Jonine d., SCOTT, Rodney j., FASCHING, Peter a., CUNNINGHAM, Julie m., ARUN, Banu k., KO, Yon-dschun, FOSTIRA, Florentia, SCHMUTZLER, Rita katharina, FÖRSTI, Asta, SANTOS-SILVA, Isabel dos, JOHN, Esther m., VAN RENSBURG, Elizabeth j., WEIDERPASS, Elisabete, FOULKES, William d., BARKARDOTTIR, Rosa b., ROBSON, Mark, STEINEMANN, Doris, LAITMAN, Yael, KHAN, Sofia, GOLDGAR, David e., GONZÁLEZ NEIRA, Anna, GAUDET, Mia m., TEO, Soo-hwang, ROMIEU, Isabelle, LUBINSKI, Jan, GERDES, Anne-marie, TEIXEIRA, Manuel r., GAYTHER, Simon a., FRIEBEL, Tara m., LEE, Eunjung, HUMPHREYS, Keith, HALL, Peter, CHUNG, Wendy k., BECKMANN, Matthias w., MANNERMAA, Arto, LINDSTRÖM, Sara, HANSEN, Thomas v. o., HART, Steven, GREENE, Mark h., TURNBULL, Clare, SOUTHEY, Melissa c., GUÉNEL, Pascal, TUNG, Nadine, GRONWALD, Jacek, HOGERVORST, Frans b. l., KONSTANTOPOULOU, Irene, EASTON, Douglas f., DUMONT, Martine, IMYANITOV, Evgeny n., MULLIGAN, Anna marie, JONES, Michael, KABISCH, Maria, SANTELLA, Regina m., WINQVIST, Robert, HEIKKINEN, Tuomas, WILDIERS, Hans, HEALEY, Sue, ANDRULIS, Irene l., ARNDT, Volker, FRIEDMAN, Eitan, KWONG, Ava, OLSON, Janet e., MARCHAND, Loïc le, LESTER, Jenny, SLAGER, Susan l., KARLAN, Beth y., VACHON, Celine m., KAR, Siddhartha p., CANZIAN, Federico, GILES, Graham g., MALONE, Kathleen e., PILARSKI, Robert, MARMÉ, Frederik, MARTENS, John w. m., LINDOR, Noralane, BOGDANOVA, Natalia v., LINDBLOM, Annika, JANAVICIUS, Ramunas, SCHMIDT, Marjanka k., RENNERT, Gad, NEUHAUSEN, Susan l., NEVANLINNA, Heli, MEINDL, Alfons, CZENE, Kamila, ANTON-CULVER, Hoda, HOPPER, John l., STENMARK-ASKMALM, Marie, MILNE, Roger l., CROSS, Simon s., MILLER, Austin, MAI, Phuong l., SENTER, Leigha, GARBER, Judy, GHOUSSAINI, Maya, HUZARSKI, Tomasz, CALDES, Trinidad, DOLCETTI, Riccardo, TAPPER, William, SOUCY, Penny, PEETERS, Petra h. m., PEISSEL, Bernard, NORDESTGAARD, Børge g., EKICI, Arif b., CALIGO, Maria a., OFFIT, Kenneth, EHRENCRONA, Hans, NUSSBAUM, Robert l., MONTAGNA, Marco, BECKMANN, Lars, SÁNCHEZ, María josé, GUNTER, Marc j., KRISTENSEN, Vessela n., ISAACS, Claudine, TUMINO, Rosario, RADICE, Paolo, RAHMAN, Nazneen, BARILE, Monica, GAMMON, Marilie d., DING, Yuan c., PETO, Julian, GABRIELSON, Marike, PETERLONGO, Paolo, RICHARDSON, Andrea, STOPPA-LYONNET, Dominique, MAKALIC, Enes, SCHMIDT, Daniel f., WHITTEMORE, Alice, SHARMA, Priyanka, SIMARD, Jacques, CHANOCK, Stephen j., GOLDBERG, Mark s., RAPPAPORT-FUERHAUSER, Christine, GODWIN, Andrew k., RANTALA, Johanna, HOOVER, Robert n., MAZOYER, Sylvie, TAMIMI, Rulla, KRAFT, Peter, TERRY, Mary beth, THOMASSEN, Mads, HAMANN, Ute, SINILNIKOVA, Olga m., HAIMAN, Christopher a., SINGER, Christian f., OLOPADE, Olufunmilayo i., BENITEZ, Javier, ANTONIOU, Antonis c., URSIN, Giski, VAN DEURZEN, Carolien h. m., TIHOMIROVA, Laima, JENSEN, Uffe birk, THOMPSON, Deborah j., SCHUMACHER, Fredrick. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. _Nature Communications_. 2016. Vol. 7. [consulta: 20 de gener de 2026]. [Disponible a: https://hdl.handle.net/2445/126861]

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