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

Homologous recombination DNA repair defects in PALB2-associated breast cancers

Autor: Li, A. (Anqi), Geyer, F. C. (Felipe C.), Blecua, P. (Pedro), Lee, J. Y. (Ju Youn), Selenica, P. (Pier), Brown, D. N. (David N.), Pareja, F. (Fresia), Lee, S. S. (Simon S. K.), Kumar, R. (Rahul), Rivera, B. (Barbara), Bi, R. (Rui), Piscuoglio, S. (Salvatore), Wen, H. Y. (Hannah Y.), Lozada, J. R. (John R.), Gularte-Merida, R. (Rodrigo), Cavallone, L. (Luca), Rezoug, Z. (Zoulikha), Nguyen-Dumont, T. (Tu), Peterlongo, P. (Paolo), Tondini, C. (Carlo), Terkelsen, T. (Thorkild), Ronlund, K. (Karina), Boonen, S. E. (Susanne E.), Mannerma, A. (Arto), Winqvist, R. (Robert), Janatova, M. (Marketa), Rajadurai, P. (Pathmanathan), Xia, B. (Bing), Norton, L. (Larry), Robson, M. E. (Mark E.), Ng, P.-S. (Pei-Sze), Looi, L.-M. (Lai-Meng), Southey, M. C. (Melissa C.), Weigelt, B. (Britta), Soo-Hwang, T. (Teo), Tischkowitz, M. (Marc), Foulkes, W. D. (William D.), Reis-Filho, J. S. (Jorge S.), Aghmesheh, M. (Morteza), Amor, D. (David), Andrews, L. (Leslie), Antill, Y. (Yoland), Balleine, R. (Rosemary), Beesley, J. (Jonathan), Blackburn, A. (Anneke), Bogwitz, M. (Michael), Brown, M. (Melissa), Burgess, M. (Matthew), Burke, J. (Jo), Butow, P. (Phyllis), Caldon, L. (Liz), Campbell, I. (Ian), Christian, A. (Alice), Clarke, C. (Christine), Cohen, P. (Paul), Crook, A. (Ashley), Cui, J. (James), Cummings, M. (Margaret), Dawson, S.-J. (Sarah-Jane), De Fazio, A. (Anna), Delatycki, M. (Martin), Dobrovic, A. (Alex), Dudding, T. (Tracy), Duijf, P. (Pascal), Edkins, E. (Edward), Edwards, S. (Stacey), Farshid, G. (Gelareh), Fellows, A. (Andrew), Field, M. (Michael), Flanagan, J. (James), Fong, P. (Peter), Forbes, J. (John), Forrest, L. (Laura), Fox, S. (Stephen), French, J. (Juliet), Friedlander, M. (Michael), Ortega, D. G. (David Gallego), Gattas, M. (Michael), Giles, G. (Graham), Gill, G. (Grantley), Gleeson, M. (Margaret), Greening, S. (Sian), Haan, E. (Eric), Harris, M. (Marion), Hayward, N. (Nick), Hickie, I. (Ian), Hopper, J. (John), Hunt, C. (Clare), James, P. (Paul), Jenkins, M. (Mark), Kefford, R. (Rick), Kentwell, M. (Maira), Kirk, J. (Judy), Kollias, J. (James), Lakhani, S. (Sunil), Lindeman, G. (Geoff), Lipton, L. (Lara), Lobb, L. (Lizz), Lok, S. (Sheau), Macrea, F. (Finlay), Mane, G. (Graham), Marsh, D. (Deb), Mclachlan, S.-A. (Sue-Anne), Meiser, B. (Bettina), Milne, R. (Roger), Nightingale, S. (Sophie), O'Connell, S. (Shona), Pachter, N. (Nick), Patterson, B. (Briony), Phillips, K. (Kelly), Saleh, M. (Mona), Salisbury, E. (Elizabeth), Saunders, C. (Christobel), Saunus, J. (Jodi), Scott, C. (Clare), Scott, R. (Rodney), Sexton, A. (Adrienne), Shelling, A. (Andrew), Simpson, P. (Peter), Spigelman, A. (Allan), Spurdle, M. (Mandy), Stone, J. (Jennifer), Taylor, J. (Jessica), Thorne, H. (Heather), Trainer, A. (Alison), Trench, G. (Georgia), Tucker, K. (Kathy), Visvader, J. (Jane), Walker, L. (Logan), Wallis, M. (Mathew), Williams, R. (Rachael), Winship, I. (Ingrid), Wu, K. (Kathy), Young, M. A. (Mary Anne)

Publikováno v: NPJ Breast Cancer
Li, A, Geyer, F C, Blecua, P, Lee, J Y, Selenica, P, Brown, D N, Pareja, F, Lee, S S K, Kumar, R, Rivera, B, Bi, R, Piscuoglio, S, Wen, H Y, Lozada, J R, Gularte-Mérida, R, Cavallone, L, Aghmesheh, M, Amor, D, Andrews, L, Antill, Y, Balleine, R, Beesley, J, Blackburn, A, Bogwitz, M, Brown, M, Burgess, M, Burke, J, Butow, P, Caldon, L, Campbell, I, Christian, A, Clarke, C, Cohen, P, Crook, A, Cui, J, Cummings, M, Dawson, S J, De Fazio, A, Delatycki, M, Dobrovic, A, Dudding, T, Duijf, P, Edkins, E, Edwards, S, Farshid, G, Fellows, A, Field, M, Flanagan, J, Terkelsen, T, Rønlund, K & kConFab Investigators 2019, ' Homologous recombination DNA repair defects in PALB2-associated breast cancers ', n p j Breast Cancer, vol. 5, 23 . https://doi.org/10.1038/s41523-019-0115-9
Li, A, Geyer, F C, Blecua, P, Lee, J Y, Selenica, P, Brown, D N, Pareja, F, Lee, S S K, Kumar, R, Rivera, B, Bi, R, Piscuoglio, S, Wen, H Y, Lozada, J R, Gularte-Mérida, R, Cavallone, L, Rezoug, Z, Nguyen-Dumont, T, Peterlongo, P, Tondini, C, Terkelsen, T, Rønlund, K, Boonen, S E, Mannerma, A, Winqvist, R, Janatova, M, Rajadurai, P, Xia, B, Norton, L, Robson, M E, Ng, P-S, Looi, L-M, Southey, M C, Weigelt, B, Soo-Hwang, T, Tischkowitz, M, Foulkes, W D, Reis-Filho, J S & KConFab Investigators 2019, ' Homologous recombination DNA repair defects in PALB2-associated breast cancers ', npj Breast Cancer, vol. 5, no. 1, 23 . https://doi.org/10.1038/s41523-019-0115-9
npj Breast Cancer, Vol 5, Iss 1, Pp 1-14 (2019)

Mono-allelic germline pathogenic variants in the Partner And Localizer of BRCA2 (PALB2) gene predispose to a high-risk of breast cancer development, consistent with the role of PALB2 in homologous recombination (HR) DNA repair. Here, we sought to def

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http://europepmc.org/articles/PMC6687719

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Carcinoma of the papilla of Vater.

Autor: Russell DM, Roberts-Thomson IC, Macrea FA, Kune GA, Sherson ND

Publikováno v: The Australian and New Zealand journal of surgery [Aust N Z J Surg] 1982 Feb; Vol. 52 (1), pp. 44-7.