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cc-by-nc-sa (c) Phelan et al., 2017
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/124402

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

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To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.

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PHELAN, Catherine m., KUCHENBAECKER, Karoline b., TYRER, Jonathan p., KAR, Siddhartha p., LAWRENSON, Kate, WINHAM, Stacey j., DENNIS, Joe, PIRIE, Ailith, RIGGAN, Marjorie j., CHORNOKUR, Ganna, EARP, Madalene a., HILDEBRANDT, Mat, Study EMBRACE, GLASSPOOL, Rosalind, PEISSEL, Bernard, MONTEIRO, Alvaro n., ALOISIO, Aimee a. d’, ONLAND-MORET, N. charlotte, PISKORZ, Anna m., HUZARSKI, Tomasz, VAN NIEUWENHUYSEN, Els, CHAN, Salina b., TIHOMIROVA, Laima, NEUHAUSEN, Susan l., CHANOCK, Stephen j., ROTHSTEIN, Joseph h., SANDLER, Dale p., PUJANA GENESTAR, M. ángel, DAO, Fanny, BROOKS-WILSON, Angela r., BEAN, Yukie, GODWIN, Andrew k., HUANG, Ruea-yea, MAZOYER, Sylvie, WEBB, Penelope m., RICHARDSON, Andrea, DANSONKA-MIESZKOWSKA, Agnieszka, ORSULIC, Sandra, KJAER, Susanne krüger, HAHNEN, Eric, PEZZANI, Lidia, NEDERGAARD, Lotte, NUSSBAUM, Robert l., BOGDANOVA, Natalia v., KWONG, Ava, HAZELETT, Dennis, HOONING, Maartje j., MERRITT, Melissa a., COOK, Linda s., RISCH, Harvey a., KRUSE, Torben a., PALLI, Domenico, LYRA, Paulo c., MEIJERS-HEIJBOER, Hanne, LAITMAN, Yael, COETZEE, Simon, MOYSICH, Kirsten b., LELE, Shashikant b., LAMBRECHTS, Diether, ZORN, Kristin k., SALVESEN, Helga b., SZABO, Csilla i., JENSEN, Allan, BLANKSTEIN, Kenneth, LEE, Jong won, TISCHKOWITZ, Marc, BJORGE, Line, BEESLEY, Jonathan, PAPI, Laura, DELNATTE, Capucine, JAMES, Paul, FORTNER, Renée t., TRABERT, Britton, ROMM, Jane, SHELFORD, Tameka, RENNERT, Gad, KELEMEN, Linda e., TUNG, Nadine, TWOROGER, Shelley s., KENNEDY, Catherine j., HÅKANSSON, Niclas, MILNE, Roger l., JANAVICIUS, Ramunas, BERNARDINI, Marcus q., LISSOWSKA, Jolanta, STEINEMANN, Doris, JENSEN, Uffe birk, KAST, Karin, LIANG, Dong, KARNEZIS, Anthony n., PERMUTH, Jennifer b., CAMPBELL, Ian, GORE, Martin, THOMASSEN, Mads, DOHENY, Kimberly f., WU, Xifeng, TAN, Yen y., BUTZOW, Ralf, LESUEUR, Fabienne, KIEMENEY, Lambertus a. l. m., MCNEISH, Iain, GERDES, Anne-marie, LIEBRICH, Clemens, TEA, Muy-kheng, EDWARDS, Digna velez, HUNTER, David j., STOPPA-LYONNET, Dominique, TOGNAZZO, Silvia, MULLIGAN, Anna marie, BLACK, Amanda, SCHMUTZLER, Rita katharina, SIDDIQUI, Nadeem, HODGSON, Shirley, VRATIMOS, Athanassios, WAND, Dorothea, VAN ALTENA, Anne m., ISAACS, Claudine, GRUBER, Stephen b., PARK-SIMON, Tjoung-won, LIPWORTH, Loren, RHIEM, Kerstin, BRUNET, Joan, VANDERSTICHELE, Adriaan, IMYANITOV, Evgeny n., SUKIENNICKI, Grzegorz, CALDES, Trinidad, MAI, Phuong l., THOMSEN, Liv cecilie vestrheim, SHARMA, Priyanka, ARVER, Brita, PEETERS, Petra h. m., WU, Anna h., MITCHELL, Gillian, ANTON-CULVER, Hoda, HOSKING, Karen, DALY, Mary b., CANNIOTO, Rikki, SUTPHEN, Rebecca, DOSSUS, Laure, RODRIGUEZ, Gustavo c., DURST, Matthias, SCHOEMAKER, Minouk j., PHILLIPS, Kelly-anne, OLOPADE, Olufunmilayo i., CHIEW, Yoke-eng, WALSH, Christine, SCHILDKRAUT, Joellen m., ODUNSI, Kunle, HENDERSON, Alex, PFEILER, Georg, GARCIA, Maria jose, DWORNICZAK, Bernd, SUTTER, Christian, IZQUIERDO I FONT, Àngel xavier, NEVANLINNA, Heli, LECARPENTIER, Julie, GOODE, Ellen l., GARBER, Judy, WENTZENSEN, Nicolas, BARJHOUX, Laure, GAYTHER, Simon a., ANTONIOU, Antonis c., ORR, Nicholas, MANOUKIAN, Siranoush, YANNOUKAKOS, Drakoulis, NIEDERACHER, Dieter, VERGOTE, Ignace, PRIEUR, Fabienne, LARSON, Melissa c., OLAH, Edith, POCZA, Timea, ANDRULIS, Irene l., TERRY, Kathryn l., HARRIS, Holly r., LUBINSKI, Jan, DAMIOLA, Francesca, JAKUBOWSKA, Anna, CESCON, Terence, OTTINI, Laura, HAMANN, Ute, OSORIO, Ana, ROBSON, Mark, LEVINE, Douglas a., POOLE, Elizabeth m., PARK, Sue k., BOJESEN, Anders, MONTAGNA, Marco, ZIOGAS, Argyrios, COUCH, Fergus j., SENTER, Leigha, CALIGO, Maria a., WHITTEMORE, Alice, MEINDL, Alfons, BRENTON, James d., BROBERG, Per, PHAROAH, Paul d. p., NATHANSON, Katherine l., LUNDVALL, Lene, SWERDLOW, Anthony j., PORTEOUS, Mary e., HAIMAN, Christopher a., BLOK, Marinus j., MUSINSKY, Jacob, BECKMANN, Matthias w., MCGUFFOG, Lesley, PUJOL, Pascal, OFFIT, Kenneth, WEITZEL, Jeffrey n., LEE, Janet m., TAYLOR, Jack a., RUDOLPH, Anja, FASCHING, Peter a., MODUGNO, Francesmary, FRIEBEL, Tara m., HAUKE, Jan, NAROD, Steven a., JOHN, Esther m., DURÁN, Mercedes, JONES, Michael e., WANG-GOHRKE, Shan, SONG, Honglin, HØGDALL, Estrid, BRINTON, Louise a., CONNER, Thomas, SINGER, Christian f., MCLAUGHLIN, John r., THULL, Darcy l., LEROUX, Dominique, KANNISTO, Päivi, EASTON, Douglas f., SIDE, Lucy e., EKICI, Arif b., LARRAÑAGA, Nerea, LEMINEN, Arto, ABEN, Katja k., FOUNTZILAS, George, YANG, Hannah, MOFFITT, Melissa, EJLERTSEN, Bent, RANTALA, Johanna, SIEH, Weiva, BONANNI, Bernardo, TRICHOPOULOU, Antonia, PELTTARI, Liisa m., SOBOL, Hagay, TONE, Alicia, EVANS, D. gareth, BEEGHLY-FADIEL, Alicia, MCALPINE, Jessica n., ARAVANTINOS, Gerasimos, ADLARD, Julian, GEHRIG, Andrea, COOK, Jackie, MASSUGER, Leon f. a. g., ROSSING, Mary anne, ADAMS, Marcia, POBLETE, Samantha r., BANERJEE, Susana, CUNNINGHAM, Julie m., GLENDON, Gord, CHEN, Xiao qing, DEFAZIO, Anna, WAPPENSCHMIDT, Barbara, HARRINGTON, Patricia a., BUYS, Saundra s., RODRIGUEZ ANTONA, Cristina, GORANOVA, Teodora, GRONWALD, Jacek, DORFLING, Cecilia m., SEVERI, Gianluca, AMOS, Christopher i., TRAVIS, Ruth c., MENDOZA-FANDINO, Gustavo a., VIERKANT, Robert a., SETIAWAN, V. wendy, FRIEDMAN, Eitan, ECCLES, Diana, VAN DEN BERG, David  berg, DAMIROVNA, Sakaeva dina, VARON-MATEEVA, Raymonda, GOODMAN, Marc t., BARKARDOTTIR, Rosa b., KOPPERUD, Reidun k., RUNNEBAUM, Ingo b., LE, Nhu d., MCGUIRE, Valerie, CHIQUETTE, Jocelyne, DAVIDSON, Rosemarie, JOHNATTY, Sharon, OLSWOLD, Curtis, WOO, Michelle, MENSENKAMP, Arjen r., GREENE, Mark h., DOHERTY, Jennifer a., WILKENS, Lynne r., ARNOLD, Norbert, SIMARD, Jacques, PIEDMONTE, Marion, O'MALLEY, David m., CHUNG, Wendy k., BARROWDALE, Daniel, PEJOVIC, Tanja, ANTONENKOVA, Natalia n., ELVIRA, Mingajeva, GARCIA BARBERAN, Vanesa, CHANG-CLAUDE, Jenny, ARUN, Banu k., KHUSNUTDINOVA, Elza, VAN DER LUIJT, Rob b., WIJNEN, Juul, SELLERS, Thomas a., BALMAÑA, Judith, WOLK, Alicja, CHENEVIX-TRENCH, Georgia, KOBEL, Martin, FROST, Debra, RICE, Patricia, FERRER, Sandra fert, ENGEL, Christoph, LESTER, Jenny, RAPPAPORT-FUERHAUSER, Christine, VIJAI, Joseph, ENG, Kevin h., TOLAND, Amanda ewart, FOULKES, William d., HUNG, Jillian, LILYQUIST, Jenna, HØGDALL, Claus k., IZATT, Louise, BRUINSMA, Fiona, HANSEN, Thomas v. o., PEIXOTO, Ana, LU, Karen h., LUCCARINI, Craig, LEE, Andrew, WEINBERG, Clarice r., CLAES, Kathleen b. m., BENITEZ, Javier, RADICE, Paolo, BORG, Åke, MARCHAND, Loïc le, KARLAN, Beth y., BERMISHEVA, Marina, DICKS, Ed, BODELON, Clara, CRAMER, Daniel w., FRIDLEY, Brooke l., PEARCE, Celeste l., WALKER, Lisa, PETERLONGO, Paolo, SOUCY, Penny, IVERSEN, Edwin s., OLSSON, Håkan, SPURDLE, Amanda b., CARNEY, Michael e., ROOKUS, Matti a., AALFS, Cora m., JERNETZ, Mats, ANA, Vega, FLANAGAN, James m., TINKER, Anna v., STADLER, Zsofia k., HOGERVORST, Frans b. l., RAMUS, Susan j., TEO, Soo-hwang, FERGUSON, Sarah, KIISKI, Johanna i., LESLIE, Goska, HILLEMANNS, Peter, FOGARTY, Zachary c., BIRRER, Michael j., HUNTSMAN, David g., GANZ, Patricia a., FOSTIRA, Florentia, SUCHESTON-CAMPBELL, Lara e., MOES-SOSNOWSKA, Joanna, PAUL, James, DOMCHEK, Susan m., VAN ENSBURG, Elizabeth j., KUPRYJANCZYK, Jolanta, PIKE, Malcolm c., HEETVELDE, Mattias van, BRADBURY, Angela r., KIM, Sung-won, BERCHUCK, Andrew, DÍEZ GIBERT, Orland, AZZOLLINI, Jacopo, POPPE, Bruce, MENON, Usha, NESS, Roberta b., MAY, Taymaa, TEIXEIRA, Manuel r., PROKOFYEVA, Darya, PUGH, Elizabeth, EILBER, Ursula, BUECHER, Bruno, HOLLAND, Helene, DING, Yuan chun, VAN DER HOUT, Annemarie h., GOLDGAR, David e., ONG, Kai ren, DORK, Thilo, EELES, Rosalind a., GILES, Graham g., HULICK, Peter j., LÁZARO GARCÍA, Conxi, SZAFRON, Lukasz, BREWER, Carole, THOMPSON, Pamela j., EDWARDS, Todd l., SOUTHEY, Melissa c., PEDERSEN, Inge søkilde, HEIN, Alexander, GENTRY-MAHARAJ, Aleksandra, ELLIS, Steve. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. _Nature Genetics_. 2017. Vol. 49, núm. 5, pàgs. 680-691. [consulta: 23 de gener de 2026]. [Disponible a: https://hdl.handle.net/2445/124402]

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