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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
Digital.CSIC. Repositorio Institucional del CSIC
instname
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

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Autor: Figlioli, G., Bogliolo, M., Catucci, I., Caleca, L., Lasheras, S. V., Pujol, R., Kiiski, J. I., Muranen, T. A., Barnes, D. R., Dennis, J., Michailidou, K., Bolla, M. K., Leslie, G., Aalfs, C. M., Balleine, R., Baxter, R., Braye, S., Carpenter, J., Dahlstrom, J., Forbes, J., Lee, C. S., Marsh, D., Morey, A., Pathmanathan, N., Scott, R., Simpson, P., Spigelman, A., Wilcken, N., Yip, D., Zeps, N., Adank, M. A., Adlard, J., Agata, S., Cadoo, K., Agnarsson, B. A., Ahearn, T., Aittomaki, K., Ambrosone, C. B., Andrews, L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Arun, B. K., Asseryanis, E., Auber, B., Auvinen, P., Azzollini, J., Balmana, J., Barkardottir, R. B., Barrowdale, D., Barwell, J., Beane Freeman, L. E., Beauparlant, C. J., Beckmann, M. W., Behrens, S., Benitez, J., Berger, R., Bermisheva, M., Blanco, A. M., Blomqvist, C., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bonanni, B., Borg, A., Brady, A. F., Brauch, H., Brenner, H., Bruning, T., Burwinkel, B., Buys, S. S., Caldes, T., Caliebe, A., Caligo, M. A., Campa, D., Campbell, I. G., Canzian, F., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Claes, K. B. M., Clarke, C. L., Collavoli, A., Conner, T. A., Cox, D. G., Cybulski, C., Czene, K., Daly, M. B., de la Hoya, M., Devilee, P., Diez, O., Ding, Y. C., Dite, G. S., Ditsch, N., Domchek, S. M., Dorfling, C. M., dos-Santos-Silva, I., Durda, K., Dwek, M., Eccles, D. M., Ekici, A. B., Eliassen, A. H., Ellberg, C., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J., Flyger, H., Foulkes, W. D., Friebel, T. M., Friedman, E., Gabrielson, M., Gaddam, P., Gago-Dominguez, M., Gao, C., Gapstur, S. M., Garber, J., Garcia-Closas, M., Garcia-Saenz, J. A., Gaudet, M. M., Gayther, S. A., Belotti, M., Bertrand, O., Birot, A. -M., Buecher, B., Caputo, S., Dupre, A., Fourme, E., Gauthier-Villars, M., Golmard, L., Le Mentec, M., Moncoutier, V., de Pauw, A., Saule, C., Boutry-Kryza, N., Calender, A., Giraud, S., Leone, M., Bressac-de-Paillerets, B., Caron, O., Guillaud-Bataille, M., Bignon, Y. -J., Uhrhammer, N., Bonadona, V., Lasset, C., Berthet, P., Castera, L., Vaur, D., Bourdon, V., Nogues, C., Noguchi, T., Popovici, C., Remenieras, A., Sobol, H., Coupier, I., Pujol, P., Adenis, C., Dumont, A., Revillion, F., Muller, D., Barouk-Simonet, E., Bonnet, F., Bubien, V., Longy, M., Sevenet, N., Gladieff, L., Guimbaud, R., Feillel, V., Toulas, C., Dreyfus, H., Leroux, C. D., Peysselon, M., Rebischung, C., Legrand, C., Baurand, A., Bertolone, G., Coron, F., Faivre, L., Jacquot, C., Lizard, S., Kientz, C., Lebrun, M., Prieur, F., Fert-Ferrer, S., Mari, V., Venat-Bouvet, L., Bezieau, S., Delnatte, C., Mortemousque, I., Colas, C., Coulet, F., Soubrier, F., Warcoin, M., Bronner, M., Sokolowska, J., Collonge-Rame, M. -A., Damette, A., Gesta, P., Lallaoui, H., Chiesa, J., Molina-Gomes, D., Ingster, O., Manouvrier-Hanu, S., Lejeune, S., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., Guenel, P., Gutierrez-Barrera, A. M., Haeberle, L., Haiman, C. A., Hakansson, N., Hall, P., Hamann, U., Harrington, P. A., Hein, A., Heyworth, J., Hillemanns, P., Hollestelle, A., Hopper, J. L., Hosgood, H. D., Howell, A., Hu, C., Hulick, P. J., Hunter, D. J., Imyanitov, E. N., Aghmesheh, M., Greening, S., Amor, D., Gattas, M., Botes, L., Buckley, M., Friedlander, M., Koehler, J., Meiser, B., Saleh, M., Salisbury, E., Trainer, A., Tucker, K., Antill, Y., Dobrovic, A., Fellows, A., Fox, S., Harris, M., Nightingale, S., Phillips, K., Sambrook, J., Thorne, H., Armitage, S., Arnold, L., Kefford, R., Kirk, J., Rickard, E., Bastick, P., Beesley, J., Hayward, N., Spurdle, A., Walker, L., Beilby, J., Saunders, C., Bennett, I., Blackburn, A., Bogwitz, M., Gaff, C., Lindeman, G., Pachter, N., Scott, C., Sexton, A., Visvader, J., Taylor, J., Winship, I., Brennan, M., Brown, M., French, J., Edwards, S., Burgess, M., Burke, J., Patterson, B., Butow, P., Culling, B., Caldon, L., Callen, D., Chauhan, D., Eisenbruch, M., Heiniger, L., Chauhan, M., Christian, A., Dixon, J., Kidd, A., Cohen, P., Colley, A., Fenton, G., Crook, A., Dickson, R., Field, M., Cui, J., Cummings, M., Dawson, S. -J., Defazio, A., Delatycki, M., Dudding, T., Edkins, T., Farshid, G., Flanagan, J., Fong, P., Forrest, L., Gallego-Ortega, D., George, P., Gill, G., Kollias, J., Haan, E., Hart, S., Jenkins, M., Hunt, C., Lakhani, S., Lipton, L., Lobb, L., Mann, G., Mclachlan, S. A., O'Connell, S., O'Sullivan, S., Pieper, E., Robinson, B., Saunus, J., Scott, E., Shelling, A., Williams, R., Young, M. A., Isaacs, C., Jakimovska, M., Jakubowska, A., James, P., Janavicius, R., Janni, W., John, E. M., Jones, M. E., Jung, A., Kaaks, R., Karlan, B. Y., Khusnutdinova, E., Kitahara, C. M., Konstantopoulou, I., Koutros, S., Kraft, P., Lambrechts, D., Lazaro, C., Le Marchand, L., Lester, J., Lesueur, F., Lilyquist, J., Loud, J. T., K. H., Lu, Luben, R. N., Lubinski, J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martens, J. W. M., Maurer, T., Mavroudis, D., Mebirouk, N., Meindl, A., Menon, U., Miller, A., Montagna, M., Nathanson, K. L., Neuhausen, S. L., Newman, W. G., Nguyen-Dumont, T., Nielsen, F. C., Nielsen, S., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Olshan, A. F., Olson, J. E., Olsson, H., Osorio, A., Ottini, L., Peissel, B., Peixoto, A., Peto, J., Plaseska-Karanfilska, D., Pocza, T., Presneau, N., Pujana, M. A., Punie, K., Rack, B., Rantala, J., Rashid, M. U., Rau-Murthy, R., Rennert, G., Lejbkowicz, F., Rhenius, V., Romero, A., Rookus, M. A., Ross, E. A., Rossing, M., Rudaitis, V., Ruebner, M., Saloustros, E., Sanden, K., Santamarina, M., Scheuner, M. T., Schmutzler, R. K., Schneider, M., Senter, L., Shah, M., Sharma, P., Shu, X. -O., Simard, J., Singer, C. F., Sohn, C., Soucy, P., Southey, M. C., Spinelli, J. J., Steele, L., Stoppa-Lyonnet, D., Tapper, W. J., Teixeira, M. R., Terry, M. B., Thomassen, M., Thompson, J., Thull, D. L., Tischkowitz, M., Tollenaar, R. A. E. M., Torres, D., Troester, M. A., Truong, T., Tung, N., Untch, M., Vachon, C. M., van Rensburg, E. J., van Veen, E. M., Vega, A., Viel, A., Wappenschmidt, B., Weitzel, J. N., Wendt, C., Wieme, G., Wolk, A., Yang, X. R., Zheng, W., Ziogas, A., Zorn, K. K., Dunning, A. M., Lush, M., Wang, Q., Mcguffog, L., Parsons, M. T., Pharoah, P. D. P., Fostira, F., Toland, A. E., Andrulis, I. L., Ramus, S. J., Swerdlow, A. J., Greene, M. H., Chung, W. K., Milne, R. L., Chenevix-Trench, G., Dork, T., Schmidt, M. K., Easton, D. F., Radice, P., Hahnen, E., Antoniou, A. C., Couch, F. J., Nevanlinna, H., Surralles, J., Peterlongo, P.

Publikováno v: npj Breast Cancer, 5:38. Nature Publishing Group
npj Breast Cancer
npj Breast Cancer, Nature, 2019, 5 (1), ⟨10.1038/s41523-019-0127-5⟩
Dipòsit Digital de la UB
Universidad de Barcelona
ABCTB Investigators, GEMO Study Collaborators & kConFab 2019, ' The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer ', npj Breast Cancer, vol. 5, no. 1, 38 . https://doi.org/10.1038/s41523-019-0127-5
Scientia
Recercat. Dipósit de la Recerca de Catalunya
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
NPJ Breast Cancer
npj Breast Cancer, 5. NATURE PUBLISHING GROUP
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Figlioli, G, Bogliolo, M, Catucci, I, Caleca, L, Lasheras, S V, Pujol, R, Kiiski, J I, Muranen, T A, Barnes, D R, Dennis, J, Michailidou, K, Bolla, M K, Leslie, G, Aalfs, C M, ABCTB Investigators, Adank, M A, Adlard, J, Agata, S, Cadoo, K, Agnarsson, B A, Ahearn, T, Aittomäki, K, Ambrosone, C B, Andrews, L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Arnold, N, Aronson, K J, Arun, B K, Asseryanis, E, Auber, B, Bojesen, A, Nielsen, F C, Nielsen, S, GEMO Study Collaborators & KConFab 2019, ' The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer ', npj Breast Cancer, vol. 5, 38 . https://doi.org/10.1038/s41523-019-0127-5
npj Breast Cancer, 2019, 5 (1), ⟨10.1038/s41523-019-0127-5⟩
npj Breast Cancer, 5(1):38. Nature Publishing Group
Figlioli, G, Bogliolo, M, Catucci, I, Caleca, L, Lasheras, S V, Pujol, R, Kiiski, J I, Muranen, T A, Barnes, D R, Dennis, J, Michailidou, K, Bolla, M K, Leslie, G, Aalfs, C M, Adank, M A, Adlard, J, Agata, S, Cadoo, K, Agnarsson, B A, Ahearn, T, Aittomäki, K, Ambrosone, C B, Andrews, L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Arnold, N, Aronson, K J, Arun, B K, Asseryanis, E, Auber, B, Auvinen, P, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Barwell, J, Beane Freeman, L E, Beauparlant, C J, Beckmann, M W, Behrens, S, Benitez, J, Berger, R, Bermisheva, M, Blanco, A M, Blomqvist, C, Bogdanova, N V, Bojesen, A, Bojesen, S E, Flyger, H, Nielsen, F C, Rossing, M, Thomassen, M & ABCTB Investigators 2019, ' The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer ', n p j Breast Cancer, vol. 5, 38 . https://doi.org/10.1038/s41523-019-0127-5
NPJ BREAST CANCER
2019, ' The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer ', NPJ Breast Cancer, vol. 5, pp. 38 . https://doi.org/10.1038/s41523-019-0127-5
Repisalud
Instituto de Salud Carlos III (ISCIII)
Npj Breast Cancer, Berlin : Nature research, 2019, vol. 5, art. no. 38, p. [1-14]
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
npj Breast Cancer, Vol 5, Iss 1, Pp 1-14 (2019)
ABCTB Investigators 2019, ' The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer ', NPJ Breast Cancer, vol. 5, pp. 38 . https://doi.org/10.1038/s41523-019-0127-5

Publisher's version (útgefin grein)
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM,

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http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-397654

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