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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

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Autor: Fachal, L., Aschard, H., Beesley, J., Barnes, D.R., Allen, J., Kar, S., Pooley, K.A., Dennis, J., Michailidou, K., Turman, C., Soucy, P., Lemaçon, A., Lush, M., Tyrer, J.P., Ghoussaini, M., Marjaneh, M.M., Jiang, X., Agata, S., Aittomäki, K., Alonso, M.R., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Aronson, K.J., Arun, B.K., Auber, B., Auer, P.L., Azzollini, J., Balmaña, J., Barkardottir, R.B., Barrowdale, D., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Białkowska, K., Blanco, A.M., Blomqvist, C., Blot, W., Bogdanova, N.V., Bojesen, S.E., Bolla, M.K., Bonanni, B., Borg, A., Bosse, K., Brauch, H., Brenner, H., Briceno, I., Brock, I.W., Brooks-Wilson, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldés, T., Caligo, M.A., Camp, N.J., Campbell, I., Canzian, F., Carroll, J.S., Carter, B.D., Castelao, J.E., Chiquette, J., Christiansen, H., Chung, W.K., Claes, K.B.M., Clarke, C.L., Mari, V., Berthet, P., Castera, L., Vaur, D., Lallaoui, H., Bignon, Y.-J., Uhrhammer, N., Bonadona, V., Lasset, C., Révillion, F., Vennin, P., Muller, D., Gomes, D.M., Ingster, O., Coupier, I., Pujol, P., Collonge-Rame, M.-A., Mortemousque, I., Bera, O., Rose, M., Baurand, A., Bertolone, G., Faivre, L., Dreyfus, H., Leroux, D., Venat-Bouvet, L., Bézieau, S., Delnatte, C., Chiesa, J., Gilbert-Dussardier, B., Gesta, P., Prieur, F.P., Bronner, M., Sokolowska, J., Coulet, F., Boutry-Kryza, N., Calender, A., Giraud, S., Leone, M., Fert-Ferrer, S., Stoppa-Lyonnet, D., Jiao, Y., Lesueur, F.L., Mebirouk, N., Barouk-Simonet, E., Bubien, V., Longy, M., Sevenet, N., Gladieff, L., Toulas, C., Reimineras, A., Sobol, H., Paillerets, B.B.-D., Cabaret, O., Caron, O., Guillaud-Bataille, M., Rouleau, E., Belotti, M., Buecher, B., Caputo, S., Colas, C., Pauw, A.D., Fourme, E., Gauthier-Villars, M., Golmard, L., Moncoutier, V., Saule, C., Donaldson, A., Murray, A., Brady, A., Brewer, C., Pottinger, C., Miller, C., Gallagher, D., Gregory, H., Cook, J., Eason, J., Adlard, J., Barwell, J., Ong, K.-R., Snape, K., Walker, L., Izatt, L., Side, L., Tischkowitz, M., Rogers, M.T., Porteous, M.E., Ahmed, M., Morrison, P.J., Brennan, P., Eeles, R., Davidson, R., Collée, M., Cornelissen, S., Couch, F.J., Cox, A., Cross, S.S., Cybulski, C., Czene, K., Daly, M.B., de la Hoya, M., Devilee, P., Diez, O., Ding, Y.C., Dite, G.S., Domchek, S.M., Dörk, T., dos-Santos-Silva, I., Droit, A., Dubois, S., Dumont, M., Duran, M., Durcan, L., Dwek, M., Eccles, D.M., Engel, C., Eriksson, M., Evans, D.G., Fasching, P.A., Fletcher, O., Floris, G., Flyger, H., Foretova, L., Foulkes, W.D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gago-Dominguez, M., Gambino, G., Ganz, P.A., Gapstur, S.M., Garber, J., García-Sáenz, J.A., Gaudet, M.M., Georgoulias, V., Giles, G., Glendon, G., Godwin, A.K., Goldberg, M.S., Goldgar, D.E., González-Neira, A., Tibiletti, M.G., Greene, M.H., Grip, M., Gronwald, J., Grundy, A., Guénel, P., Hahnen, E., Haiman, C.A., Håkansson, N., Hall, P., Hamann, U., Harrington, P.A., Hartikainen, J.M., Hartman, M., He, W., Healey, C.S., Heemskerk-Gerritsen, B.A.M., Heyworth, J., Hillemanns, P., Hogervorst, F.B.L., Hollestelle, A., Hooning, M., Hopper, J., Howell, A., Huang, G., Hulick, P.J., Imyanitov, E.N., Sexton, A., Christian, A., Trainer, A., Spigelman, A., Fellows, A., Shelling, A., Fazio, A.D., Blackburn, A., Crook, A., Meiser, B., Patterson, B., Clarke, C., Saunders, C., Hunt, C., Scott, C., Amor, D., Marsh, D., Edkins, E., Salisbury, E., Haan, E., Neidermayr, E., Macrea, F., Farshid, G., Lindeman, G., Chenevix-Trench, G., Mann, G., Gill, G., Thorne, H., Hickie, I., Winship, I., Flanagan, J., Kollias, J., Visvader, J., Stone, J., Taylor, J., Burke, J., Saunus, J., Forbes, J., Kirk, J., French, J., Tucker, K., Wu, K., Phillips, K., Lipton, L., Andrews, L., Lobb, L., Kentwell, M., Spurdle, M., Cummings, M., Gleeson, M., Harris, M., Jenkins, M., Young, M.A., Delatycki, M., Wallis, M., Burgess, M., Price, M., Brown, M., Southey, M., Bogwitz, M., Field, M., Friedlander, M., Gattas, M., Saleh, M., Hayward, N., Pachter, N., Cohen, P., Duijf, P., James, P., Simpson, P., Fong, P., Butow, P., Williams, R., Kefford, R., Scott, R., Milne, R.L., Balleine, R., Dawson, S.–J., Lok, S., O’Connell, S., Greening, S., Nightingale, S., Edwards, S., Fox, S., McLachlan, S.-A., Lakhani, S., Antill, Y., Aalfs, C., Meijers-Heijboer, H., van Engelen, K., Gille, H., Boere, I., van Deurzen, C., Obdeijn, I.-M., van den Ouweland, A., Seynaeve, C., Siesling, S., Verloop, J., van Asperen, C.J., van Cronenburg, T., Blok, R., de Boer, M., Garcia, E.G., Adank, M., Hogervorst, F., Jenner, D., van Leeuwen, F., Rookus, M., Russell, N., Schmidt, M., van den Belt-Dusebout, S., Kets, C., Mensenkamp, A., de Bock, T., van der Hout, A., Mourits, M., Oosterwijk, J., Ausems, M., Koudijs, M., Baxter, R., Yip, D., Carpenter, J., Davis, A., Pathmanathan, N., Graham, D., Sachchithananthan, M., Isaacs, C., Iwasaki, M., Jager, A., Jakimovska, M., Jakubowska, A., James, P.A., Janavicius, R., Jankowitz, R.C., John, E.M., Johnson, N., Jones, M.E., Jukkola-Vuorinen, A., Jung, A., Kaaks, R., Kang, D., Kapoor, P.M., Karlan, B.Y., Keeman, R., Kerin, M.J., Khusnutdinova, E., Kiiski, J.I., Kitahara, C.M., Ko, Y.-D., Konstantopoulou, I., Kosma, V.-M., Koutros, S., Kubelka-Sabit, K., Kwong, A., Kyriacou, K., Laitman, Y., Lambrechts, D., Lee, E., Leslie, G., Lester, J., Lesueur, F., Lindblom, A., Lo, W.-Y., Long, J., Lophatananon, A., Loud, J.T., Lubiński, J., MacInnis, R.J., Maishman, T., Makalic, E., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M.E., Matsuo, K., Maurer, T., Mavroudis, D., Mayes, R., McGuffog, L., McLean, C., Meindl, A., Miller, A., Miller, N., Montagna, M., Moreno, F., Muir, K., Mulligan, A.M., Muñoz-Garzon, V.M., Muranen, T.A., Narod, S.A., Nassir, R., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Neven, P., Nielsen, F.C., Nikitina-Zake, L., Norman, A., Offit, K., Olah, E., Olopade, O.I., Olsson, H., Orr, N., Osorio, A., Pankratz, V.S., Papp, J., Park, S.K., Park-Simon, T.-W., Parsons, M.T., Paul, J., Pedersen, I.S., Peissel, B., Peshkin, B., Peterlongo, P., Peto, J., Plaseska-Karanfilska, D., Prajzendanc, K., Prentice, R., Presneau, N., Prokofyeva, D., Pujana, M.A., Pylkäs, K., Radice, P., Ramus, S.J., Rantala, J., Rau-Murthy, R., Rennert, G., Risch, H.A., Robson, M., Romero, A., Rossing, M., Saloustros, E., Sánchez-Herrero, E., Sandler, D.P., Santamariña, M., Sawyer, E.J., Scheuner, M.T., Schmidt, D.F., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., Schöttker, B., Schürmann, P., Scott, R.J., Senter, L., Seynaeve, C.M., Shah, M., Sharma, P., Shen, C.-Y., Shu, X.-O., Singer, C.F., Slavin, T.P., Smichkoska, S., Southey, M.C., Spinelli, J.J., Spurdle, A.B., Sutter, C., Swerdlow, A.J., Tamimi, R.M., Tan, Y.Y., Tapper, W.J., Taylor, J.A., Teixeira, M.R., Tengström, M., Teo, S.H., Terry, M.B., Teulé, A., Thomassen, M., Thull, D.L., Toland, A.E., Tollenaar, R.A.E.M., Tomlinson, I., Torres, D., Torres-Mejía, G., Troester, M.A., Truong, T., Tung, N., Tzardi, M., Ulmer, H.-U., Vachon, C.M., van der Kolk, L.E., van Rensburg, E.J., Vega, A., Viel, A., Vijai, J., Vogel, M.J., Wang, Q., Wappenschmidt, B., Weinberg, C.R., Weitzel, J.N., Wendt, C., Wildiers, H., Winqvist, R., Wolk, A., Wu, A.H., Yannoukakos, D., Zhang, Y., Zheng, W., Hunter, D., Pharoah, P.D.P., Chang-Claude, J., García-Closas, M., Schmidt, M.K., Kristensen, V.N., French, J.D., Edwards, S.L., Antoniou, A.C., Simard, J., Easton, D.F., Kraft, P., Dunning, A.M., Collaborators, GEMO Study, Collaborators, EMBRACE, Investigators, KConFab, Investigators, HEBON, Investigators, ABCTB

Publikováno v: Fachal, L, Aschard, H, Beesley, J, Barnes, D R, Allen, J, Kar, S, Pooley, K A, Dennis, J, Michailidou, K, Turman, C, Soucy, P, Lemaçon, A, Lush, M, Tyrer, J P, Ghoussaini, M, Moradi Marjaneh, M, Jiang, X, Agata, S, Aittomäki, K, Alonso, M R, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arason, A, Arndt, V, Aronson, K J, Arun, B K, Auber, B, Auer, P L, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Białkowska, K, Blanco, A M, Blomqvist, C, Blot, W, Bogdanova, N V, Bojesen, S E, Bolla, M K, Bonanni, B, Borg, A, Bosse, K, Brauch, H, Brenner, H, Briceno, I, Brock, I W, Brooks-Wilson, A, Brüning, T, Burwinkel, B, Buys, S S, Cai, Q, Caldés, T, Caligo, M A, Camp, N J, Campbell, I, Canzian, F, Carroll, J S, Carter, B D, Castelao, J E, Chiquette, J, Christiansen, H, Chung, W K, Claes, K B M, Clarke, C, Mari, V, Berthet, P, Castera, L, Vaur, D, Lallaoui, H, Bignon, Y-J, Uhrhammer, N, Bonadona, V, Lasset, C, Révillion, F, Vennin, P, Muller, D, Gomes, D M, Ingster, O, Coupier, I, Pujol, P, Collonge-Rame, M-A, Mortemousque, I, Bera, O, Rose, M, Baurand, A, Bertolone, G, Faivre, L, Dreyfus, H, Leroux, D, Venat-Bouvet, L, Bézieau, S, Delnatte, C, Chiesa, J, Gilbert-Dussardier, B, Gesta, P, Prieur, F P, Bronner, M, Sokolowska, J, Coulet, F, Boutry-Kryza, N, Calender, A, Giraud, S, Leone, M, Fert-Ferrer, S, Stoppa-Lyonnet, D, Jiao, Y, Lesueur, F L, Mebirouk, N, Barouk-Simonet, E, Bubien, V, Longy, M, Sevenet, N, Gladieff, L, Toulas, C, Reimineras, A, Sobol, H, Paillerets, B B, Cabaret, O, Caron, O, Guillaud-Bataille, M, Rouleau, E, Belotti, M, Buecher, B, Caputo, S, Colas, C, Pauw, A D, Fourme, E, Gauthier-Villars, M, Golmard, L, Moncoutier, V, Saule, C, Donaldson, A, Murray, A, Brady, A, Brewer, C, Pottinger, C, Miller, C, Gallagher, D, Gregory, H, Cook, J, Eason, J, Adlard, J, Barwell, J, Ong, K-R, Snape, K, Walker, L, Izatt, L, Side, L, Tischkowitz, M, Rogers, M T, Porteous, M E, Ahmed, M, Morrison, P J, Brennan, P, Eeles, R, Davidson, R, Collée, J M, Cornelissen, S, Couch, F J, Cox, A, Cross, S S, Cybulski, C, Czene, K, Daly, M B, de la Hoya, M, Devilee, P, Diez, O, Ding, Y C, Dite, G S, Domchek, S M, Dörk, T, dos-Santos-Silva, I, Droit, A, Dubois, S, Dumont, M, Duran, M, Durcan, L, Dwek, M, Eccles, D M, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Fletcher, O, Floris, G, Flyger, H, Foretova, L, Foulkes, W D, Friedman, E, Fritschi, L, Frost, D, Gabrielson, M, Gago-Dominguez, M, Gambino, G, Ganz, P A, Gapstur, S M, Garber, J, García-Sáenz, J A, Gaudet, M M, Georgoulias, V, Giles, G, Glendon, G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-Neira, A, Tibiletti, M G, Greene, M H, Grip, M, Gronwald, J, Grundy, A, Guénel, P, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hartikainen, J M, Hartman, M, He, W, Healey, C S, Heemskerk-Gerritsen, B A M, Heyworth, J, Hillemanns, P, Hogervorst, F B L, Hollestelle, A, Hooning, M J, Hopper, J L, Howell, A, Huang, G, Hulick, P J, Imyanitov, E N, Sexton, A, Christian, A, Trainer, A, Spigelman, A, Fellows, A, Shelling, A, Fazio, A D, Blackburn, A, Crook, A, Meiser, B, Patterson, B, Clarke, C, Saunders, C, Hunt, C, Scott, C, Amor, D, Marsh, D, Edkins, E, Salisbury, E, Haan, E, Neidermayr, E, Macrea, F, Farshid, G, Lindeman, G, Trench, G, Mann, G, Giles, G, Gill, G, Thorne, H, Hickie, I, Winship, I, Flanagan, J, Kollias, J, Visvader, J, Stone, J, Taylor, J, Burke, J, Saunus, J, Forbes, J, Hopper, J, Kirk, J, French, J, Tucker, K, Wu, K, Phillips, K, Lipton, L, Andrews, L, Lobb, L, Walker, L, Kentwell, M, Spurdle, M, Cummings, M, Gleeson, M, Harris, M, Jenkins, M, Young, M A, Delatycki, M, Wallis, M, Pedersen, I S & Dunning, A M 2020, ' Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes ', Nature Genetics, vol. 52, no. 1, pp. 56-73 . https://doi.org/10.1038/s41588-019-0537-1
Fachal, L, Aschard, H, Beesley, J, Barnes, D R, Allen, J, Kar, S, Pooley, K A, Dennis, J, Michailidou, K, Turman, C, Soucy, P, Lemaçon, A, Lush, M, Tyrer, J P, Ghoussaini, M, Moradi Marjaneh, M, Jiang, X, Agata, S, Aittomäki, K, Alonso, M R, Andrulis, I L, Anton-culver, H, Antonenkova, N N, Arason, A, Arndt, V, Aronson, K J, Arun, B K, Auber, B, Auer, P L, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Beeghly-fadiel, A, Benitez, J, Bermisheva, M, Białkowska, K, Blanco, A M, Blomqvist, C, Blot, W, Bogdanova, N V, Bojesen, S E, Bolla, M K, Bonanni, B, Borg, A, Bosse, K, Brauch, H, Brenner, H, Briceno, I, Brock, I W, Brooks-wilson, A, Brüning, T, Burwinkel, B, Buys, S S, Cai, Q, Caldés, T, Caligo, M A, Camp, N J, Campbell, I, Canzian, F, Carroll, J S, Carter, B D, Castelao, J E, Chiquette, J, Christiansen, H, Chung, W K, Claes, K B M, Clarke, C L, Collée, J M, Cornelissen, S, Couch, F J, Cox, A, Cross, S S, Cybulski, C, Czene, K, Daly, M B, De La Hoya, M, Devilee, P, Diez, O, Ding, Y C, Dite, G S, Domchek, S M, Dörk, T, Dos-santos-silva, I, Droit, A, Dubois, S, Dumont, M, Duran, M, Durcan, L, Dwek, M, Eccles, D M, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Fletcher, O, Floris, G, Flyger, H, Foretova, L, Foulkes, W D, Friedman, E, Fritschi, L, Frost, D, Gabrielson, M, Gago-dominguez, M, Gambino, G, Ganz, P A, Gapstur, S M, Garber, J, García-sáenz, J A, Gaudet, M M, Georgoulias, V, Giles, G G, Glendon, G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-neira, A, Tibiletti, M G, Greene, M H, Grip, M, Gronwald, J, Grundy, A, Guénel, P, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hartikainen, J M, Hartman, M, He, W, Healey, C S, Heemskerk-gerritsen, B A M, Heyworth, J, Hillemanns, P, Hogervorst, F B L, Hollestelle, A, Hooning, M J, Hopper, J L, Howell, A, Huang, G, Hulick, P J, Imyanitov, E N, Isaacs, C, Iwasaki, M, Jager, A, Jakimovska, M, Jakubowska, A, James, P A, Janavicius, R, Jankowitz, R C, John, E M, Johnson, N, Jones, M E, Jukkola-vuorinen, A, Jung, A, Kaaks, R, Kang, D, Kapoor, P M, Karlan, B Y, Keeman, R, Kerin, M J, Khusnutdinova, E, Kiiski, J I, Kirk, J, Kitahara, C M, Ko, Y, Konstantopoulou, I, Kosma, V, Koutros, S, Kubelka-sabit, K, Kwong, A, Kyriacou, K, Laitman, Y, Lambrechts, D, Lee, E, Leslie, G, Lester, J, Lesueur, F, Lindblom, A, Lo, W, Long, J, Lophatananon, A, Loud, J T, Lubiński, J, Macinnis, R J, Maishman, T, Makalic, E, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, M E, Matsuo, K, Maurer, T, Mavroudis, D, Mayes, R, Mcguffog, L, Mclean, C, Mebirouk, N, Meindl, A, Miller, A, Miller, N, Montagna, M, Moreno, F, Muir, K, Mulligan, A M, Muñoz-garzon, V M, Muranen, T A, Narod, S A, Nassir, R, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Neven, P, Nielsen, F C, Nikitina-zake, L, Norman, A, Offit, K, Olah, E, Olopade, O I, Olsson, H, Orr, N, Osorio, A, Pankratz, V S, Papp, J, Park, S K, Park-simon, T, Parsons, M T, Paul, J, Pedersen, I S, Peissel, B, Peshkin, B, Peterlongo, P, Peto, J, Plaseska-karanfilska, D, Prajzendanc, K, Prentice, R, Presneau, N, Prokofyeva, D, Pujana, M A, Pylkäs, K, Radice, P, Ramus, S J, Rantala, J, Rau-murthy, R, Rennert, G, Risch, H A, Robson, M, Romero, A, Rossing, M, Saloustros, E, Sánchez-herrero, E, Sandler, D P, Santamariña, M, Saunders, C, Sawyer, E J, Scheuner, M T, Schmidt, D F, Schmutzler, R K, Schneeweiss, A, Schoemaker, M J, Schöttker, B, Schürmann, P, Scott, C, Scott, R J, Senter, L, Seynaeve, C M, Shah, M, Sharma, P, Shen, C, Shu, X, Singer, C F, Slavin, T P, Smichkoska, S, Southey, M C, Spinelli, J J, Spurdle, A B, Stone, J, Stoppa-lyonnet, D, Sutter, C, Swerdlow, A J, Tamimi, R M, Tan, Y Y, Tapper, W J, Taylor, J A, Teixeira, M R, Tengström, M, Teo, S H, Terry, M B, Teulé, A, Thomassen, M, Thull, D L, Tischkowitz, M, Toland, A E, Tollenaar, R A E M, Tomlinson, I, Torres, D, Torres-mejía, G, Troester, M A, Truong, T, Tung, N, Tzardi, M, Ulmer, H, Vachon, C M, Van Asperen, C J, Van Der Kolk, L E, Van Rensburg, E J, Vega, A, Viel, A, Vijai, J, Vogel, M J, Wang, Q, Wappenschmidt, B, Weinberg, C R, Weitzel, J N, Wendt, C, Wildiers, H, Winqvist, R, Wolk, A, Wu, A H, Yannoukakos, D, Zhang, Y, Zheng, W, Hunter, D, Pharoah, P D P, Chang-claude, J, García-closas, M, Schmidt, M K, Milne, R L, Kristensen, V N, French, J D, Edwards, S L, Antoniou, A C, Chenevix-trench, G, Simard, J, Easton, D F, Kraft, P & Dunning, A M 2020, ' Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes ', Nature Genetics, vol. 52, no. 1, pp. 56-73 . https://doi.org/10.1038/s41588-019-0537-1
Nature Genetics, 52(1). Nature Publishing Group
Evans, D G, Lophatananon, A, Muir, K & et al. 2020, ' Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes ', Nature Genetics, vol. 52, no. 1, pp. 56-73 . https://doi.org/10.1038/s41588-019-0537-1
Nature Genetics
Nature genetics
Nature Genetics, Nature Publishing Group, 2020, 52 (1), pp.56-73. ⟨10.1038/s41588-019-0537-1⟩
Nature Genetics, 52(1), 56-73. NATURE PUBLISHING GROUP
Nature Genetics, 2020, 52 (1), pp.56-73. ⟨10.1038/s41588-019-0537-1⟩
GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators & ABCTB Investigators 2020, ' Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes ', Nature Genetics, vol. 52, no. 1, pp. 56-73 . https://doi.org/10.1038/s41588-019-0537-1
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Fachal, L, Aschard, H, Beesley, J, Barnes, D R, Allen, J, Kar, S, Pooley, K A, Dennis, J, Michailidou, K, Turman, C, Soucy, P, Lemaçon, A, Lush, M, Tyrer, J P, Ghoussaini, M, Marjaneh, M M, Jiang, X, Agata, S, Aittomäki, K, Alonso, M R, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arason, A, Arndt, V, Aronson, K J, Arun, B K, Auber, B, Auer, P L, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Białkowska, K, Blanco, A M, Blomqvist, C, Blot, W, Bogdanova, N V, Bojesen, S E, Bolla, M K, Bonanni, B, Borg, A, Bosse, K, Christiansen, H, Pedersen, I S, Shen, C Y, Thomassen, M, ABCTB Investigators, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, Bojesen, S E, Flyger, H, Nielsen, F C & Rossing, M 2020, ' Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes ', Nature Genetics, vol. 52, no. 1, pp. 56-73 . https://doi.org/10.1038/s41588-019-0537-1
Nature Genetics, 52(1), 56-73. Nature Publishing Group
Nature genetics, 52(1), 56-73. Nature Publishing Group

Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae2e2bceb9b9384e90ff36ea749dbe68
https://hdl.handle.net/1887/3181589

BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects

Autor: Apostolou, P. Fostira, F. Kouroussis, C. Kalfakakou, D. Delimitsou, A. Agelaki, S. Androulakis, N. Christodoulou, C. Kalbakis, K. Kalykaki, A. Sanidas, E. Papadimitriou, C. Vamvakas, L. Georgoulias, V. Mavroudis, D. Yannoukakos, D. Konstantopoulou, I. Saloustros, E.

Germline BRCA1 and BRCA2 loss-of-function variants have been linked to increased breast and ovarian cancer risk, with more than 5,000 distinct pathogenic variants being reported worldwide. Among individuals of Greek descent, the BRCA1/2 variant spect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::3beaf939f4d6a5128cef816e571d6989
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078244

PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk

Autor: Vagena, A. Papamentzelopoulou, M. Kalfakakou, D. Kollia, P. Papadimitriou, C. Psyrri, A. Apostolou, P. Fountzilas, G. Konstantopoulou, I. Yannoukakos, D. Fostira, F.

PALB2 loss-of-function variants play an important role in breast, pancreatic and possibly, ovarian and gastric cancer susceptibility. Their frequency can be influenced by founder effects, already described in some populations. Herein, we have assesse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::c6bbd50051cd44b79c0a4ba90c3672cd
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078421