Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Autor: Zhang, H, Ahearn, TU, Lecarpentier, J, Barnes, D, Beesley, J, Qi, G, Jiang, X, O’Mara, TA, Zhao, N, Bolla, MK, Dunning, AM, Dennis, J, Wang, Q, Ful, ZA, Aittomäki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Aronson, KJ, Arun, BK, Auer, PL, Azzollini, J, Barrowdale, D, Becher, H, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bialkowska, K, Blanco, A, Blomqvist, C, Bogdanova, NV, Bojesen, SE, Bonanni, B, Bondavalli, D, Borg, A, Brauch, H, Brenner, H, Briceno, I, Broeks, A, Brucker, SY, Brüning, T, Burwinkel, B, Buys, SS, Byers, H, Caldés, T, Caligo, MA, Calvello, M, Campa, D, Castelao, JE, Chang-Claude, J, Chanock, SJ, Christiaens, M, Christiansen, H, Chung, WK, Claes, KBM, Clarke, CL, Cornelissen, S, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Diez, O, Domchek, SM, Dörk, T, Dwek, M, Eccles, DM, Ekici, AB, Evans, DG, Fasching, PA, Figueroa, J, Foretova, L, Fostira, F, Friedman, E, Frost, D, Gago-Dominguez, M, Gapstur, SM, Garber, J, García-Sáenz, JA, Gaudet, MM, Gayther, SA, Giles, GG, Godwin, AK, Goldberg, MS, Goldgar, DE, González-Neira, A, Greene, MH, Gronwald, J, Guénel, P, Häberle, L, Hahnen, E, Haiman, CA, Hake, CR, Hall, P, Hamann, U, Harkness, EF, Heemskerk-Gerritsen, BAM, Hillemanns, P, Hogervorst, FBL, Holleczek, B, Hollestelle, A, Hooning, MJ, Hoover, RN, Hopper, JL, Howell, A, Huebner, H, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Jager, A, Jakimovska, M, Jakubowska, A, James, P, Janavicius, R, Janni, W, John, EM, Jones, ME, Jung, A, Kaaks, R, Kapoor, PM, Karlan, BY, Keeman, R, Khan, S, Khusnutdinova, E, Kitahara, CM, Ko, Y-D, Konstantopoulou, I, Koppert, LB, Koutros, S, Kristensen, VN, Laenkholm, A-V, Lambrechts, D, Larsson, SC, Laurent-Puig, P, Lazaro, C, Lazarova, E, Lejbkowicz, F, Leslie, G, Lesueur, F, Lindblom, A, Lissowska, J, Lo, W-Y, Loud, JT, Lubinski, J, Lukomska, A, MacInnis, RJ, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, ME, Matricardi, L, McGuffog, L, McLean, C, Mebirouk, N, Meindl, A, Menon, U, Miller, A, Mingazheva, E, Montagna, M, Mulligan, AM, Mulot, C, Muranen, TA, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Neven, P, Newman, WG, Nielsen, FC, Nikitina-Zake, L, Nodora, J, Offit, K, Olah, E, Olopade, OI, Olsson, H, Orr, N, Papi, L, Papp, J, Park-Simon, T-W, Parsons, MT, Peissel, B, Peixoto, A, Peshkin, B, Peterlongo, P, Peto, J, Phillips, K-A, Piedmonte, M, Plaseska-Karanfilska, D, Prajzendanc, K, Prentice, R, Prokofyeva, D, Rack, B, Radice, P, Ramus, SJ, Rantala, J, Rashid, MU, Rennert, G, Rennert, HS, Risch, HA, Romero, A, Rookus, MA, Rübner, M, Rüdiger, T, Saloustros, E, Sampson, S, Sandler, DP, Sawyer, EJ, Scheuner, MT, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Schöttker, B, Schürmann, P, Senter, L, Sharma, P, Sherman, ME, Shu, X-O, Singer, CF, Smichkoska, S, Soucy, P, Southey, MC, Spinelli, JJ, Stone, J, Stoppa-Lyonnet, D, Swerdlow, AJ, Szabo, CI, Tamimi, RM, Tapper, WJ, Taylor, JA, Teixeira, MR, Terry, M, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Tollenaar, RAEM, Tomlinson, I, Torres, D, Troester, MA, Truong, T, Tung, N, Untch, M, Vachon, CM, van den Ouweland, AMW, van der Kolk, LE, van Veen, EM, vanRensburg, EJ, Vega, A, Wappenschmidt, B, Weinberg, CR, Weitzel, JN, Wildiers, H, Winqvist, R, Wolk, A, Yang, XR, Yannoukakos, D, Zheng, W, Zorn, KK, Milne, RL, Kraft, P, Simard, J, Pharoah, PDP, Michailidou, K, Antoniou, AC, Schmidt, MK, Chenevix-Trench, G, Easton, DF, Chatterjee, N, García-Closas, M

Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1,2,3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BR

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::42ca1a0a4e290f0a78a5081dbad34741
https://eprints.whiterose.ac.uk/161038/3/Discovery_SNPs_paper_09052019.pdf

A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

Autor: Whiley P, Walker LC, De LA Hoya M, Wappenschmidt B, Becker A, Blanco A, Blok MJ, Caligo MA, Chatfield C, Couch F, Diez O, Fachal L, Guidugli L, Enríquez S, Hansen T, Houdayer C, Imrie S, Lafferty A, Lázaro C, Menéndez M, Montagna M, Montalbán G, Santamariña M, Pederson I, Southey M, Tancredi M, Tenès A, Thomassen M, Van Overeem Vega A, Spurdle AB, Brown MA

Publikováno v: Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A87 (2012)

Externí odkaz: https://doaj.org/article/8ecac3ee1231468d8c7913065da4cdd1

The inherent molecular stigma in normal breast tissue of BRCA1/2 gene mutation carriers: TC1 and SYNGR2 genes involvement in neoplastic transformatio

Autor: F. Lessi, Caligo Ma, Claudia Scopelliti, Scatena C, Mariella Tancredi, Sara Franceschi, Sara Tomei, Aretini P, Michele Menicagli, C.M. Mazzanti, Naccarato Ag, Prospero Civita

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::065aabb775e6ed4d764c2a279766424e
http://hdl.handle.net/11568/1001030

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

Autor: Phelan, CM, Kuchenbaecker, KB, Tyrer, JP, Kar, SP, Lawrenson, K, Winham, SJ, Dennis, J, Pirie, A, Riggan, MJ, Chornokur, G, Earp, MA, Lyra, PC, Lee, JM, Coetzee, S, Beesley, J, McGuffog, L, Soucy, P, Dicks, E, Lee, A, Barrowdale, D, Lecarpentier, J, Leslie, G, Aalfs, CM, Aben, KKH, Adams, M, Adlard, J, Andrulis, IL, Anton-Culver, H, Antonenkova, N, Aravantinos, G, Arnold, N, Arun, BK, Arver, B, Azzollini, J, Balmaña, J, Banerjee, SN, Barjhoux, L, Barkardottir, RB, Bean, Y, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, MQ, Birrer, MJ, Bjorge, L, Black, A, Blankstein, K, Blok, MJ, Bodelon, C, Bogdanova, N, Bojesen, A, Bonanni, B, Borg, Å, Bradbury, AR, Brenton, JD, Brewer, C, Brinton, L, Broberg, P, Brooks-Wilson, A, Bruinsma, F, Brunet, J, Buecher, B, Butzow, R, Buys, SS, Caldes, T, Caligo, MA, Campbell, I, Cannioto, R, Carney, ME, Cescon, T, Chan, SB, Chang-Claude, J, Chanock, S, Chen, XQ, Chiew, YE, Chiquette, J, Chung, WK, Claes, KBM, Conner, T, Cook, LS, Cook, J, Cramer, DW, Cunningham, JM, D'Aloisio, AA

Publikováno v: Phelan, CM; Kuchenbaecker, KB; Tyrer, JP; Kar, SP; Lawrenson, K; Winham, SJ; et al.(2017). Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nature Genetics, 49(5), 680-691. doi: 10.1038/ng.3826. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/7096f8cp

© 2017 Nature America, Inc., part of Springer Nature. All rights reserved. To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::47415d296e7e750b7654d2b2f9710a96
http://www.escholarship.org/uc/item/7096f8cp

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Autor: Hollestelle, A, Van Der Baan, FH, Berchuck, A, Johnatty, SE, Aben, KK, Agnarsson, BA, Aittomäki, K, Alducci, E, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Antoniou, AC, Apicella, C, Arndt, V, Arnold, N, Arun, BK, Arver, B, Ashworth, A, Baglietto, L, Balleine, R, Bandera, EV, Barrowdale, D, Bean, YT, Beckmann, L, Beckmann, MW, Benitez, J, Berger, A, Berger, R, Beuselinck, B, Bisogna, M, Bjorge, L, Blomqvist, C, Bogdanova, NV, Bojesen, A, Bojesen, SE, Bolla, MK, Bonanni, B, Brand, JS, Brauch, H, Brenner, H, Brinton, L, Brooks-Wilson, A, Bruinsma, F, Brunet, J, Brüning, T, Budzilowska, A, Bunker, CH, Burwinkel, B, Butzow, R, Buys, SS, Caligo, MA, Campbell, I, Carter, J, Chang-Claude, J, Chanock, SJ, Claes, KBM, Collée, JM, Cook, LS, Couch, FJ, Cox, A, Cramer, D, Cross, SS, Cunningham, JM, Cybulski, C, Czene, K, Damiola, F, Dansonka-Mieszkowska, A, Darabi, H, De La Hoya, M, Defazio, A, Dennis, J, Devilee, P, Dicks, EM

Publikováno v: Hollestelle, A; Van Der Baan, FH; Berchuck, A; Johnatty, SE; Aben, KK; Agnarsson, BA; et al.(2016). No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecologic Oncology, 141(2), 386-401. doi: 10.1016/j.ygyno.2015.04.034. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/2w30z17d

© 2015 Elsevier Inc. All rights reserved. Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::0824ecb7b1eec685a220763af3248002
http://www.escholarship.org/uc/item/2w30z17d