Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Pedersen, I.S."'
Autor:
Thomassen, M., Mesman, R.L.S., Hansen, T.V.O., Menendez, M., Rossing, M., Esteban-Sanchez, A., Tudini, E., Torngren, T., Parsons, M.T., Pedersen, I.S., Teo, S.H., Kruse, T.A., Moller, P., Borg, A., Jensen, U.B., Christensen, L.L., Singer, C.F., Muhr, D., Santamarina, M., Brandao, R., Andresen, B.S., Feng, B.J., Canson, D., Richardson, M.E., Karam, R., Pesaran, T., LaDuca, H., Conner, B.R., Abualkheir, N., Hoang, L., Calleja, F.M.G.R., Andrews, L., James, P.A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D.E., Walker, L.C., Engel, C., Claes, K.B.M., Machackova, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., Vreeswijk, M.P.G., Hoya, M. de la, Spurdle, A.B., ENIGMA Consortium
Publikováno v:
HUMAN MUTATION
Human Mutation: Variation, Informatics and Disease, 43(12), 1921-1944. WILEY-HINDAWI
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Human Mutation, 43(12), 1921-1944. Wiley
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, ENIGMA consortium, Vreeswijk, M P G, de la Hoya, M & Spurdle, A B 2022, ' Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants : application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Human Mutation: Variation, Informatics and Disease, 43(12), 1921-1944. WILEY-HINDAWI
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Human Mutation, 43(12), 1921-1944. Wiley
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, ENIGMA consortium, Vreeswijk, M P G, de la Hoya, M & Spurdle, A B 2022, ' Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants : application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splice event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exo
Autor:
Mapendano, C.K., Nøhr, A.K., Carus, A., Lorincz, T., Oestergaard, L. Poulsen, Haslund, C.A., Pagh, A., Sønderkærd, M., Bøgsted, M., Pedersen, I.S., Ladekarl, M.
Publikováno v:
In ESMO Open October 2023 8(1) Supplement 5
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Autor:
Krarup, K.B., Krarup, H.B., Pedersen, I.S., Mørk, M., Kristensen, S.R., Handberg, A., Wimmer, R., Nguyen, H.T.T.
Publikováno v:
In Atherosclerosis August 2022 355
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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
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
https://hdl.handle.net/1887/3181589