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Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Autor: Dorling, L., Carvalho, S., Allen, J., Parsons, M.T., Fortuno, C., Gonzalez-Neira, A., Heijl, S.M., Adank, M.A., Ahearn, T.U., Andrulis, I.L., Auvinen, P., Becher, H., Beckmann, M.W., Behrens, S., Bermisheva, M., Bogdanova, N.V., Bojesen, S.E., Bolla, M.K., Bremer, M., Briceno, I., Camp, N.J., Campbell, A., Castelao, J.E., Chang-Claude, J., Chanock, S.J., Chenevix-Trench, G., Collee, J.M., Czene, K., Dennis, J., Dork, T., Eriksson, M., Evans, D.G., Fasching, P.A., Figueroa, J., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Garcia-Closas, M., Giles, G.G., Glendon, G., Guenel, P., Gundert, M., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Harkness, E.F., Hartman, M., Hogervorst, F.B.L., Hollestelle, A., Hoppe, R., Howell, A., Jakubowska, A., Jung, A., Khusnutdinova, E., Kim, S.W., Ko, Y.D., Kristensen, V.N., Lakeman, I.M.M., Li, J.M., Lindblom, A., Loizidou, M.A., Lophatananon, A., Lubinski, J., Luccarini, C., Madsen, M.J., Mannermaa, A., Manoochehri, M., Margolin, S., Mavroudis, D., Milne, R.L., Taib, N.A.M., Muir, K., Nevanlinna, H., Newman, W.G., Oosterwijk, J.C., Park, S.K., Peterlongo, P., Radice, P., Saloustros, E., Sawyer, E.J., Schmutzler, R.K., Shah, M.T., Sim, X., Southey, M.C., Surowy, H., Suvanto, M., Tomlinson, I., Torres, D., Truong, T., Asperen, C.J. van, Waltes, R., Wang, Q., Yang, X.H.R., Pharoah, P.D.P., Schmidt, M.K., Benitez, J., Vroling, B., Dunning, A.M., Teo, S.H., Kvist, A., Hoya, M. de la, Devilee, P., Spurdle, A.B., Vreeswijk, M.P.G., Easton, D.F., NBCS Collaborators, KConFab Investigators, SGBCC Investigators

Publikováno v: Genome Medicine, 14(1). BMC
Genome Medicine, 14(1):51. BioMed Central Ltd.
Dorling, L, Carvalho, S, Allen, J, Parsons, M T, Fortuno, C, González-Neira, A, Heijl, S M, Adank, M A, Ahearn, T U, Andrulis, I L, Auvinen, P, Becher, H, Beckmann, M W, Behrens, S, Bermisheva, M, Bogdanova, N V, Bojesen, S E, Bolla, M K, Bremer, M, Briceno, I, Camp, N J, Campbell, A, Castelao, J E, Chang-Claude, J, Chanock, S J, Chenevix-Trench, G, Collée, J M, Czene, K, Dennis, J, Dörk, T, Eriksson, M, Evans, D G, Fasching, P A, Figueroa, J, Flyger, H, Gabrielson, M, Gago-Dominguez, M, García-Closas, M, Giles, G G, Glendon, G, Guénel, P, Gündert, M, Hadjisavvas, A, Hahnen, E, Hall, P, Hamann, U, Harkness, E F, Hartman, M, Hogervorst, F B L, Hollestelle, A, Hoppe, R, Howell, A, Jakubowska, A, Jung, A, Khusnutdinova, E, Kim, S-W, Ko, Y-D, Kristensen, V N, Lakeman, I M M, Li, J, Lindblom, A, Loizidou, M A, Lophatananon, A, Lubiński, J, Luccarini, C, Madsen, M J, Mannermaa, A, Manoochehri, M, Margolin, S, Mavroudis, D, Milne, R L, Taib, N A M, Muir, K, Nevanlinna, H, Newman, W G, Oosterwijk, J C, Park, S K, Peterlongo, P, Radice, P, Saloustros, E, Sawyer, E J, Schmutzler, R K, Shah, M, Sim, X, Southey, M C, Surowy, H, Suvanto, M, Tomlinson, I, Torres, D, Truong, T, van Asperen, C J, Waltes, R, Wang, Q, Yang, X R, Pharoah, P D P, Schmidt, M K, Benitez, J, Vroling, B, Dunning, A M, Teo, S H, Kvist, A, de la Hoya, M, Devilee, P, Spurdle, A B, Vreeswijk, M P G & Easton, D F 2022, ' Breast cancer risks associated with missense variants in breast cancer susceptibility genes ', Genome Medicine, vol. 14, 51 . https://doi.org/10.1186/s13073-022-01052-8
Genome Med. 14:51 (2022)
Genome medicine, 14:51. BMC
2022, ' Breast cancer risks associated with missense variants in breast cancer susceptibility genes ', Genome Medicine, vol. 14, no. 1, 51, pp. 51 . https://doi.org/10.1186/s13073-022-01052-8
Genome Medicine
Genome Medicine, 2022, 14 (1), pp.51. ⟨10.1186/s13073-022-01052-8⟩

Background Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods We analyzed data on 59,639 breast cancer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6c185147962665a775ec9e902da9f70
http://hdl.handle.net/1887/3563684

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Autor: Baxter, J.S., Johnson, N., Tomczyk, K., Gillespie, A., Maguire, S., Brough, R., Fachal, L., Michailidou, K., Bolla, M.K., Wang, Q., Dennis, J., Ahearn, T.U., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arndt, V., Aronson, K.J., Augustinsson, A., Becher, H., Beckmann, M.W., Behrens, S., Benitez, J., Bermisheva, M., Bogdanova, N.V., Bojesen, S.E., Brenner, H., Brucker, S.Y., Cai, Q.Y., Campa, D., Canzian, F., Castelao, J.E., Chan, T.L., Chang-Claude, J., Chanock, S.J., Chenevix-Trench, G., Choi, J.Y., Clarke, C.L., Collaborators, N., Colonna, S., Conroy, D.M., Couch, F.J., Cox, A., Cross, S.S., Czene, K., Daly, M.B., Devilee, P., Dork, T., Dossus, L., Dwek, M., Eccles, D.M., Ekici, A.B., Eliassen, A.H., Engel, C., Fasching, P.A., Figueroa, J., Flyger, H., Gago-Dominguez, M., Gao, C., Garcia-Closas, M., Garcia-Saenz, J.A., Ghoussaini, M., Giles, G.G., Goldberg, M.S., Gonzalez-Neira, A., Guenel, P., Gundert, M., Haeberle, L., Hahnen, E., Haiman, C.A., Hall, P., Hamann, U., Hartman, M., Hatse, S., Hauke, J., Hollestelle, A., Hoppe, R., Hopper, J.L., Hou, M.F., Ito, H., Iwasaki, M., Jager, A., Jakubowska, A., Janni, W., John, E.M., Joseph, V., Jung, A., Kaaks, R., Kang, D., Keeman, R., Khusnutdinova, E., Kim, S.W., Kosma, V.M., Kraft, P., Kristensen, V.N., Kubelka-Sabit, K., Kurian, A.W., Kwong, A., Lacey, J.V., Lambrechts, D., Larson, N.L., Larsson, S.C., Marchand, L. le, Lejbkowicz, F., Li, J.M., Long, J.R., Lophatananon, A., LubiNski, J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Matsuo, K., Mavroudis, D., Mayes, R., Menon, U., Milne, R.L., Taib, N.A.M., Muir, K., Muranen, T.A., Murphy, R.A., Nevanlinna, H., O'Brien, K.M., Offit, K., Olson, J.E., Olsson, H., Park, S.K., Park-Simon, T.W., Patel, A.V., Peterlongo, P., Peto, J., Plaseska-Karanfilska, D., Presneau, N., Pylkas, K., Rack, B., Rennert, G., Romero, A., Ruebner, M., Rudiger, T., Saloustros, E., Sandler, D.P., Sawyer, E.J., Schmidt, M.K., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., Shah, M., Shen, C.Y., Shu, X.O., Simard, J., Southey, M.C., Stone, J., Surowy, H., Swerdlow, A.J., Tamimi, R.M., Tapper, W.J., Taylor, J.A., Teo, S.H., Teras, L.R., Terry, M.B., Toland, A.E., Tomlinson, I., Truong, T., Tseng, C.C., Untch, M., Vachon, C.M., Ouweland, A.M.W. van den, Wang, S.S., Weinberg, C.R., Wendt, C., Winham, S.J., Winqvist, R., Wolk, A., Wu, A.H., Yamaji, T., Zheng, W., Ziogas, A., Pharoah, P.D.P., Dunning, A.M., Easton, D.F., Pettitt, S.J., Lord, C.J., Haider, S., Orr, N., Fletcher, O., kConFab Investigators, ABCTB Investigators

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 108(7), 1190-1203. CELL PRESS
Baxter, J S, Johnson, N, Tomczyk, K, Gillespie, A, Maguire, S, Brough, R, Fachal, L, Michailidou, K, Bolla, M K, Wang, Q, Dennis, J, Ahearn, T U, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Augustinsson, A, Becher, H, Beckmann, M W, Behrens, S, Benitez, J, Bermisheva, M, Bogdanova, N V, Bojesen, S E, Brenner, H, Brucker, S Y, Cai, Q, Campa, D, Canzian, F, Castelao, J E, Chan, T L, Chang-Claude, J, Chanock, S J, Chenevix-Trench, G, Choi, J Y, Clarke, C L, Colonna, S, Conroy, D M, Couch, F J, Cox, A, Cross, S S, Czene, K, Daly, M B, Devilee, P, Dörk, T, Dossus, L, Dwek, M, Eccles, D M, Flyger, H, NBCS Collaborators, kConFab Investigators & ABCTB Investigators 2021, ' Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element ', American Journal of Human Genetics, vol. 108, no. 7, pp. 1190-1203 . https://doi.org/10.1016/j.ajhg.2021.05.013
NBCS Collaborators 2021, ' Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element ', American Journal of Human Genetics, vol. 108, no. 7, pp. 1190-1203 . https://doi.org/10.1016/j.ajhg.2021.05.013
American Journal of Human Genetics, 108(7), 1190-1203. Cell Press
Baxter, J S, Johnson, N, Tomczyk, K, Gillespie, A, Maguire, S, Brough, R, Fachal, L, Michailidou, K, Bolla, M K, Wang, Q, Dennis, J, Ahearn, T U, Andrulis, I L, Anton-culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Augustinsson, A, Becher, H, Beckmann, M W, Behrens, S, Benitez, J, Bermisheva, M, Bogdanova, N V, Bojesen, S E, Brenner, H, Brucker, S Y, Cai, Q, Campa, D, Canzian, F, Castelao, J E, Chan, T L, Chang-claude, J, Chanock, S J, Chenevix-trench, G, Choi, J, Clarke, C L, Colonna, S, Conroy, D M, Couch, F J, Cox, A, Cross, S S, Czene, K, Daly, M B, Devilee, P, Dörk, T, Dossus, L, Dwek, M, Eccles, D M, Ekici, A B, Eliassen, A H, Engel, C, Fasching, P A, Figueroa, J, Flyger, H, Gago-dominguez, M, Gao, C, García-closas, M, García-sáenz, J A, Ghoussaini, M, Giles, G G, Goldberg, M S, González-neira, A, Guénel, P, Gündert, M, Haeberle, L, Hahnen, E, Haiman, C A, Hall, P, Hamann, U, Hartman, M, Hatse, S, Hauke, J, Hollestelle, A, Hoppe, R, Hopper, J L, Hou, M, Ito, H, Iwasaki, M, Jager, A, Jakubowska, A, Janni, W, John, E M, Joseph, V, Jung, A, Kaaks, R, Kang, D, Keeman, R, Khusnutdinova, E, Kim, S, Kosma, V, Kraft, P, Kristensen, V N, Kubelka-sabit, K, Kurian, A W, Kwong, A, Lacey, J V, Lambrechts, D, Larson, N L, Larsson, S C, Le Marchand, L, Lejbkowicz, F, Li, J, Long, J, Lophatananon, A, Lubiński, J, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Matsuo, K, Mavroudis, D, Mayes, R, Menon, U, Milne, R L, Mohd Taib, N A, Muir, K, Muranen, T A, Murphy, R A, Nevanlinna, H, O’brien, K M, Offit, K, Olson, J E, Olsson, H, Park, S K, Park-simon, T, Patel, A V, Peterlongo, P, Peto, J, Plaseska-karanfilska, D, Presneau, N, Pylkäs, K, Rack, B, Rennert, G, Romero, A, Ruebner, M, Rüdiger, T, Saloustros, E, Sandler, D P, Sawyer, E J, Schmidt, M K, Schmutzler, R K, Schneeweiss, A, Schoemaker, M J, Shah, M, Shen, C, Shu, X, Simard, J, Southey, M C, Stone, J, Surowy, H, Swerdlow, A J, Tamimi, R M, Tapper, W J, Taylor, J A, Teo, S H, Teras, L R, Terry, M B, Toland, A E, Tomlinson, I, Truong, T, Tseng, C, Untch, M, Vachon, C M, Van Den Ouweland, A M W, Wang, S S, Weinberg, C R, Wendt, C, Winham, S J, Winqvist, R, Wolk, A, Wu, A H, Yamaji, T, Zheng, W, Ziogas, A, Pharoah, P D P, Dunning, A M, Easton, D F, Pettitt, S J, Lord, C J, Haider, S, Orr, N & Fletcher, O 2021, ' Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element ', American Journal of Human Genetics, vol. 108, no. 7, pp. 1190-1203 . https://doi.org/10.1016/j.ajhg.2021.05.013

A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bed0e907c60e7003970b3019b106e1b3
https://lirias.kuleuven.be/handle/123456789/680817

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

Autor: Park, HA, Neumeyer, S, Michailidou, K, Bolla, MK, Wang, Q, Dennis, J, Ahearn, TU, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arndt, V, Aronson, KJ, Augustinsson, A, Baten, A, Beane Freeman, LE, Becher, H, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bogdanova, NV, Bojesen, SE, Brauch, H, Brenner, H, Brucker, SY, Burwinkel, B, Campa, D, Canzian, F, Castelao, JE, Chanock, SJ, Chenevix-Trench, G, Clarke, CL, Børresen-Dale, A-L, Grenaker Alnæs, GI, Sahlberg, KK, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, MM, Sauer, T, Haakensen, V, Engebråten, O, Naume, B, Fosså, A, Kiserud, CE, Reinertsen, KV, Helland, Å, Riis, M, Geisler, J, Conroy, DM, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Dörk, T, dos-Santos-Silva, I, Dwek, M, Eccles, DM, Eliassen, AH, Engel, C, Eriksson, M, Evans, DG, Fasching, PA, Flyger, H, Fritschi, L, García-Closas, M, García-Sáenz, JA, Gaudet, MM, Giles, GG, Glendon, G, Goldberg, MS, Goldgar, DE, González-Neira, A, Grip, M, Guénel, P, Hahnen, E, Haiman, CA, Håkansson, N, Hall, P, Hamann, U, Han, S, Harkness, EF, Hart, SN, He, W, Heemskerk-Gerritsen, BAM, Hopper, JL, Hunter, DJ, Clarke, C, Marsh, D, Scott, R, Baxter, R, Yip, D, Carpenter, J, Davis, A, Pathmanathan, N, Simpson, P, Graham, D, Sachchithananthan, M, Amor, D, Andrews, L, Antill, Y, Balleine, R, Beesley, J, Bennett, I, Bogwitz, M, Botes, L, Brennan, M, Brown, M, Buckley, M, Burke, J, Butow, P, Caldon, L, Campbell, I, Chauhan, D, Chauhan, M, Christian, A, Cohen, P, Colley, A, Crook, A, Cui, J, Cummings, M, Dawson, S-J, DeFazio, A, Delatycki, M, Dickson, R, Dixon, J, Edkins, T, Edwards, S, Farshid, G, Fellows, A, Fenton, G, Field, M, Flanagan, J, Fong, P, Forrest, L, Fox, S, French, J, Friedlander, M, Gaff, C, Gattas, M, George, P, Greening, S, Harris, M, Hart, S, Hayward, N, Hopper, J, Hoskins, C, Hunt, C, James, P, Jenkins, M, Kidd, A, Kirk, J, Koehler, J, Kollias, J, Lakhani, S, Lawrence, M, Lindeman, G, Lipton, L, Lobb, L, Mann, G, McLachlan, SA, Meiser, B, Milne, R, Nightingale, S, O’Connell, S, O’Sullivan, S, Ortega, DG, Pachter, N, Patterson, B, Pearn, A, Phillips, K, Pieper, E, Rickard, E, Robinson, B, Saleh, M, Salisbury, E, Saunders, C, Saunus, J, Scott, C, Sexton, A, Shelling, A, Southey, M, Spurdle, A, Taylor, J, Taylor, R, Thorne, H, Trainer, A, Tucker, K, Visvader, J, Walker, L, Williams, R, Winship, I, Young, MA, Jager, A, Jakubowska, A, John, EM, Jung, A, Kaaks, R, Kapoor, PM, Keeman, R, Khusnutdinova, E, Kitahara, CM, Koppert, LB, Koutros, S, Kristensen, VN, Kurian, AW, Lacey, J, Lambrechts, D, Le Marchand, L, Lo, W-Y, Lubiński, J, Mannermaa, A, Manoochehri, M, Margolin, S, Martinez, ME, Mavroudis, D, Meindl, A, Menon, U, Milne, RL, Muranen, TA, Nevanlinna, H, Newman, WG, Nordestgaard, BG, Offit, K, Olshan, AF, Olsson, H, Park-Simon, T-W, Peterlongo, P, Peto, J, Plaseska-Karanfilska, D, Presneau, N, Radice, P, Rennert, G, Rennert, HS, Romero, A, Saloustros, E, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Schoemaker, MJ, Schwentner, L, Shah, M, Shu, X-O, Simard, J, Smeets, A, Southey, MC, Spinelli, JJ, Stevens, V, Swerdlow, AJ, Tamimi, RM, Tapper, WJ, Taylor, JA, Terry, MB, Tomlinson, I, Troester, MA, Truong, T, Vachon, CM, van Veen, EM, Vijai, J, Wang, S, Wendt, C, Winqvist, R, Wolk, A, Ziogas, A, Dunning, AM, Pharoah, PDP, Easton, DF, Zheng, W, Kraft, P, Chang-Claude, J

Publikováno v: British Journal of Cancer
Park, H A, Neumeyer, S, Michailidou, K, Bolla, M K, Wang, Q, Dennis, J, Ahearn, T U, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Augustinsson, A, Baten, A, Beane Freeman, L E, Becher, H, Beckmann, M W, Behrens, S, Benitez, J, Bermisheva, M, Bogdanova, N V, Bojesen, S E, Brauch, H, Brenner, H, Brucker, S Y, Burwinkel, B, Campa, D, Canzian, F, Castelao, J E, Chanock, S J, Chenevix-Trench, G, Clarke, C L, Børresen-Dale, A L, Grenaker Alnæs, G I, Sahlberg, K K, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, M M, Sauer, T, Haakensen, V, Engebråten, O, Naume, B, Fosså, A, Kiserud, C E, Reinertsen, K V, Riis, M, Flyger, H, Nordestgaard, B G, Scott, C, NBCS Collaborators, ABCTB Investigators & kConFab Investigators 2021, ' Mendelian randomisation study of smoking exposure in relation to breast cancer risk ', British Journal of Cancer, vol. 125, pp. 1135–1145 . https://doi.org/10.1038/s41416-021-01432-8
Park, H A, Neumeyer, S, Michailidou, K, Bolla, M K, Wang, Q, Dennis, J, Ahearn, T U, Andrulis, I L, Anton-culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Augustinsson, A, Baten, A, Beane Freeman, L E, Becher, H, Beckmann, M W, Behrens, S, Benitez, J, Bermisheva, M, Bogdanova, N V, Bojesen, S E, Brauch, H, Brenner, H, Brucker, S Y, Burwinkel, B, Campa, D, Canzian, F, Castelao, J E, Chanock, S J, Chenevix-trench, G, Clarke, C L, Børresen-dale, A, Grenaker Alnæs, G I, Sahlberg, K K, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, M M, Sauer, T, Haakensen, V, Engebråten, O, Naume, B, Fosså, A, Kiserud, C E, Reinertsen, K V, Helland, Å, Riis, M, Geisler, J, Conroy, D M, Couch, F J, Cox, A, Cross, S S, Czene, K, Daly, M B, Devilee, P, Dörk, T, Dos-santos-silva, I, Dwek, M, Eccles, D M, Eliassen, A H, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Flyger, H, Fritschi, L, García-closas, M, García-sáenz, J A, Gaudet, M M, Giles, G G, Glendon, G, Goldberg, M S, Goldgar, D E, González-neira, A, Grip, M, Guénel, P, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Han, S, Harkness, E F, Hart, S N, He, W, Heemskerk-gerritsen, B A M, Hopper, J, Hunter, D J, Clarke, C, Marsh, D, Scott, R, Baxter, R, Yip, D, Carpenter, J, Davis, A, Pathmanathan, N, Simpson, P, Graham, D, Sachchithananthan, M, Amor, D, Andrews, L, Antill, Y, Balleine, R, Beesley, J, Bennett, I, Bogwitz, M, Botes, L, Brennan, M, Brown, M, Buckley, M, Burke, J, Butow, P, Caldon, L, Campbell, I, Chauhan, D, Chauhan, M, Chenevix-trench, G, Christian, A, Cohen, P, Colley, A, Crook, A, Cui, J, Cummings, M, Dawson, S, Defazio, A, Delatycki, M, Dickson, R, Dixon, J, Edkins, T, Edwards, S, Farshid, G, Fellows, A, Fenton, G, Field, M, Flanagan, J, Fong, P, Forrest, L, Fox, S, French, J, Friedlander, M, Gaff, C, Gattas, M, George, P, Greening, S, Harris, M, Hart, S, Hayward, N, Hopper, J, Hoskins, C, Hunt, C, James, P, Jenkins, M, Kidd, A, Kirk, J, Koehler, J, Kollias, J, Lakhani, S, Lawrence, M, Lindeman, G, Lipton, L, Lobb, L, Mann, G, Marsh, D, Mclachlan, S A, Meiser, B, Milne, R L, Nightingale, S, O’connell, S, O’sullivan, S, Ortega, D G, Pachter, N, Patterson, B, Pearn, A, Phillips, K, Pieper, E, Rickard, E, Robinson, B, Saleh, M, Salisbury, E, Saunders, C, Saunus, J, Scott, R, Scott, C, Sexton, A, Shelling, A, Simpson, P, Southey, M C, Spurdle, A, Taylor, J, Taylor, R, Thorne, H, Trainer, A, Tucker, K, Visvader, J, Walker, L, Williams, R, Winship, I, Young, M A, Jager, A, Jakubowska, A, John, E M, Jung, A, Kaaks, R, Kapoor, P M, Keeman, R, Khusnutdinova, E, Kitahara, C M, Koppert, L B, Koutros, S, Kristensen, V N, Kurian, A W, Lacey, J, Lambrechts, D, Le Marchand, L, Lo, W, Lubiński, J, Mannermaa, A, Manoochehri, M, Margolin, S, Martinez, M E, Mavroudis, D, Meindl, A, Menon, U, Milne, R L, Muranen, T A, Nevanlinna, H, Newman, W G, Nordestgaard, B G, Offit, K, Olshan, A F, Olsson, H, Park-simon, T, Peterlongo, P, Peto, J, Plaseska-karanfilska, D, Presneau, N, Radice, P, Rennert, G, Rennert, H S, Romero, A, Saloustros, E, Sawyer, E J, Schmidt, M K, Schmutzler, R K, Schoemaker, M J, Schwentner, L, Scott, C, Shah, M, Shu, X, Simard, J, Smeets, A, Southey, M C, Spinelli, J J, Stevens, V, Swerdlow, A J, Tamimi, R M, Tapper, W J, Taylor, J A, Terry, M B, Tomlinson, I, Troester, M A, Truong, T, Vachon, C M, Van Veen, E M, Vijai, J, Wang, S, Wendt, C, Winqvist, R, Wolk, A, Ziogas, A, Dunning, A M, Pharoah, P D P, Easton, D F, Zheng, W, Kraft, P & Chang-claude, J 2021, ' Mendelian randomisation study of smoking exposure in relation to breast cancer risk ', British Journal of Cancer, vol. 125, pp. 1135–1145 . https://doi.org/10.1038/s41416-021-01432-8, https://doi.org/10.1038/s41416-021-01432-8
British Journal of Cancer, 125, 1135-1145. SPRINGERNATURE
Park, H A, Neumeyer, S, Michailidou, K, Bolla, M K, Wang, Q, Dennis, J, Ahearn, T U, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Augustinsson, A, Baten, A, Beane Freeman, L E, Becher, H, Beckmann, M W, Behrens, S, Benitez, J, Bermisheva, M, Bogdanova, N V, Bojesen, S E, Brauch, H, Brenner, H, Brucker, S Y, Burwinkel, B, Campa, D, Canzian, F, Castelao, J E, Chanock, S J, Chenevix-Trench, G, Clarke, C, Børresen-Dale, A-L, Grenaker Alnæs, G I, Sahlberg, K K, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, M M, Sauer, T, Haakensen, V, Engebråten, O, Naume, B, Fosså, A, Kiserud, C E, Reinertsen, K V, Helland, Å, Riis, M, Geisler, J, Conroy, D M, Couch, F J, Cox, A, Cross, S S, Czene, K, Daly, M B, Devilee, P, Dörk, T, dos-Santos-Silva, I, Dwek, M, Eccles, D M, Eliassen, A H, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Flyger, H, Fritschi, L, García-Closas, M, García-Sáenz, J A, Gaudet, M M, Giles, G G, Glendon, G, Goldberg, M S, Goldgar, D E, González-Neira, A, Grip, M, Guénel, P, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Han, S, Harkness, E F, Hart, S N, He, W, Heemskerk-Gerritsen, B A M, Hopper, J L, Hunter, D J, Clarke, C, Marsh, D, Scott, R, Baxter, R, Yip, D, Carpenter, J, Davis, A, Pathmanathan, N, Simpson, P, Graham, D, Sachchithananthan, M, Amor, D, Andrews, L, Antill, Y, Balleine, R, Beesley, J, Bennett, I, Bogwitz, M, Botes, L, Brennan, M, Brown, M, Buckley, M, Burke, J, Butow, P, Caldon, L, Campbell, I, Chauhan, D, Chauhan, M, Chenevix-Trench, G, Christian, A, Cohen, P, Colley, A, Crook, A, Cui, J, Cummings, M, Dawson, S-J, DeFazio, A, Delatycki, M, Dickson, R, Dixon, J, Edkins, T, Edwards, S, Farshid, G, Fellows, A, Fenton, G, Field, M, Flanagan, J, Fong, P, Forrest, L, Fox, S, French, J, Friedlander, M, Gaff, C, Gattas, M, George, P, Greening, S, Harris, M, Hart, S N, Hayward, N, Hopper, J, Hoskins, C, Hunt, C, James, P, Jenkins, M, Kidd, A, Kirk, J, Koehler, J, Kollias, J, Lakhani, S, Lawrence, M, Lindeman, G, Lipton, L, Lobb, L, Mann, G, Marsh, D, McLachlan, S A, Meiser, B, Milne, R, Nightingale, S, O’Connell, S, O’Sullivan, S, Ortega, D G, Pachter, N, Patterson, B, Pearn, A, Phillips, K, Pieper, E, Rickard, E, Robinson, B, Saleh, M, Salisbury, E, Saunders, C, Saunus, J, Scott, R, Scott, C, Sexton, A, Shelling, A, Simpson, P, Southey, M, Spurdle, A, Taylor, J A, Taylor, R, Thorne, H, Trainer, A, Tucker, K, Visvader, J, Walker, L, Williams, R, Winship, I, Young, M A, Jager, A, Jakubowska, A, John, E M, Jung, A, Kaaks, R, Kapoor, P M, Keeman, R, Khusnutdinova, E, Kitahara, C M, Koppert, L B, Koutros, S, Kristensen, V N, Kurian, A W, Lacey, J, Lambrechts, D, Le Marchand, L, Lo, W-Y, Lubiński, J, Mannermaa, A, Manoochehri, M, Margolin, S, Martinez, M E, Mavroudis, D, Meindl, A, Menon, U, Milne, R L, Muranen, T A, Nevanlinna, H, Newman, W G, Nordestgaard, B G, Offit, K, Olshan, A F, Olsson, H, Park-Simon, T-W, Peterlongo, P, Peto, J, Plaseska-Karanfilska, D, Presneau, N, Radice, P, Rennert, G, Rennert, H S, Romero, A, Saloustros, E, Sawyer, E J, Schmidt, M K, Schmutzler, R K, Schoemaker, M J, Schwentner, L, Scott, C, Shah, M, Shu, X-O, Simard, J, Smeets, A, Southey, M C, Spinelli, J J, Stevens, V, Swerdlow, A J, Tamimi, R M, Tapper, W J, Taylor, J A, Terry, M B, Tomlinson, I, Troester, M A, Truong, T, Vachon, C M, van Veen, E M, Vijai, J, Wang, S, Wendt, C, Winqvist, R, Wolk, A, Ziogas, A, Dunning, A M, Pharoah, P D P, Easton, D F, Zheng, W, Kraft, P & Chang-Claude, J 2021, ' Mendelian randomisation study of smoking exposure in relation to breast cancer risk ', British Journal of Cancer, vol. 125, no. 8, pp. 1135-1145 . https://doi.org/10.1038/s41416-021-01432-8

Background Despite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies, it is still equivocal whether smoking is causally related to breast cancer risk. Methods We applied Mendelian randomisa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::232338acc30f6160b9b2d1e708dcf4c9
http://hdl.handle.net/11568/1133876

Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Autor: Ahearn, TU, Zhang, H, Michailidou, K, Milne, RL, Bolla, MK, Dennis, J, Dunning, AM, Lush, M, Wang, Q, Andrulis, IL, Anton-Culver, H, Arndt, V, Aronson, KJ, Auer, PL, Augustinsson, A, Baten, A, Becher, H, Behrens, S, Benitez, J, Bermisheva, M, Blomqvist, C, Bojesen, SE, Bonanni, B, Børresen-Dale, A-L, Brauch, H, Brenner, H, Brooks-Wilson, A, Brüning, T, Burwinkel, B, Buys, SS, Canzian, F, Castelao, JE, Chang-Claude, J, Chanock, SJ, Chenevix-Trench, G, Clarke, CL, Sahlberg, KK, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, MM, Sauer, T, Haakensen, V, Engebråten, O, Naume, B, Fosså, A, Kiserud, CE, Reinertsen, KV, Helland, Å, Riis, M, Geisler, J, Collée, JM, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Dörk, T, Dwek, M, Eccles, DM, Evans, DG, Fasching, PA, Figueroa, J, Floris, G, Gago-Dominguez, M, Gapstur, SM, García-Sáenz, JA, Gaudet, MM, Giles, GG, Goldberg, MS, González-Neira, A, Alnæs, GIG, Grip, M, Guénel, P, Haiman, CA, Hall, P, Hamann, U, Harkness, EF, Heemskerk-Gerritsen, BAM, Holleczek, B, Hollestelle, A, Hooning, MJ, Hoover, RN, Hopper, JL, Howell, A, Clarke, C, Balleine, R, Baxter, R, Braye, S, Carpenter, J, Dahlstrom, J, Forbes, J, Lee, C, Marsh, D, Morey, A, Pathmanathan, N, Scott, R, Simpson, P, Spigelman, A, Wilcken, N, Yip, D, Zeps, N, Fox, S, Campbell, I, Bowtell, D, Spurdle, A, Webb, P, de Fazio, A, Tassell, M, Kirk, J, Lindeman, G, Price, M, Southey, M, Milne, R, Deb, S, Jakimovska, M, Jakubowska, A, John, EM, Jones, ME, Jung, A, Kaaks, R, Kauppila, S, Keeman, R, Khusnutdinova, E, Kitahara, CM, Ko, Y-D, Koutros, S, Kristensen, VN, Krüger, U, Kubelka-Sabit, K, Kurian, AW, Kyriacou, K, Lambrechts, D, Lee, DG, Lindblom, A, Linet, M, Lissowska, J, Llaneza, A, Lo, W-Y, MacInnis, RJ, Mannermaa, A, Manoochehri, M, Margolin, S, Martinez, ME, McLean, C, Meindl, A, Menon, U, Nevanlinna, H, Newman, WG, Nodora, J, Offit, K, Olsson, H, Orr, N, Park-Simon, T-W, Patel, AV, Peto, J, Pita, G, Plaseska-Karanfilska, D, Prentice, R, Punie, K, Pylkäs, K, Radice, P, Rennert, G, Romero, A, Rüdiger, T, Saloustros, E, Sampson, S, Sandler, DP, Sawyer, EJ, Schmutzler, RK, Schoemaker, MJ, Schöttker, B, Sherman, ME, Shu, X-O, Smichkoska, S, Southey, MC, Spinelli, JJ, Swerdlow, AJ, Tamimi, RM, Tapper, WJ, Taylor, JA, Teras, LR, Terry, MB, Torres, D, Troester, MA, Vachon, CM, van Deurzen, CHM, van Veen, EM, Wagner, P, Weinberg, CR, Wendt, C, Wesseling, J, Winqvist, R, Wolk, A, Yang, XR, Zheng, W, Couch, FJ, Simard, J, Kraft, P, Easton, DF, Pharoah, PDP, Schmidt, MK, García-Closas, M, Chatterjee, N

Publikováno v: Ahearn, T U, Zhang, H, Michailidou, K, Milne, R, Bolla, M K, Dennis, J, Dunning, A M, Lush, M, Wang, Q, Andrulis, I L, Anton-culver, H, Arndt, V, Aronson, K J, Auer, P L, Augustinsson, A, Baten, A, Becher, H, Behrens, S, Benitez, J, Bermisheva, M, Blomqvist, C, Bojesen, S E, Bonanni, B, Børresen-dale, A, Brauch, H, Brenner, H, Brooks-wilson, A, Brüning, T, Burwinkel, B, Buys, S S, Canzian, F, Castelao, J E, Chang-claude, J, Chanock, S J, Chenevix-trench, G, Clarke, C L, Sahlberg, K K, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, M M, Sauer, T, Haakensen, V, Engebråten, O, Naume, B, Fosså, A, Kiserud, C E, Reinertsen, K V, Helland, Å, Riis, M, Geisler, J, Collée, J M, Cox, A, Cross, S S, Czene, K, Daly, M B, Devilee, P, Dörk, T, Dwek, M, Eccles, D M, Evans, D G, Fasching, P A, Figueroa, J, Floris, G, Gago-dominguez, M, Gapstur, S M, García-sáenz, J A, Gaudet, M M, Giles, G G, Goldberg, M S, González-neira, A, Alnæs, G I G, Grip, M, Guénel, P, Haiman, C A, Hall, P, Hamann, U, Harkness, E F, Heemskerk-gerritsen, B A M, Holleczek, B, Hollestelle, A, Hooning, M J, Hoover, R N, Hopper, J L, Howell, A, Clarke, C, Balleine, R, Baxter, R, Braye, S, Carpenter, J, Dahlstrom, J, Forbes, J, Lee, C, Marsh, D, Morey, A, Pathmanathan, N, Scott, R, Simpson, P, Spigelman, A, Wilcken, N, Yip, D, Zeps, N, Fox, S, Campbell, I, Bowtell, D, Chenevix-trench, G, Spurdle, A, Webb, P, De Fazio, A, Tassell, M, Kirk, J, Lindeman, G, Price, M, Southey, M C, Milne, R, Deb, S, Jakimovska, M, Jakubowska, A, John, E M, Jones, M E, Jung, A, Kaaks, R, Kauppila, S, Keeman, R, Khusnutdinova, E, Kitahara, C M, Ko, Y, Koutros, S, Kristensen, V N, Krüger, U, Kubelka-sabit, K, Kurian, A W, Kyriacou, K, Lambrechts, D, Lee, D G, Lindblom, A, Linet, M, Lissowska, J, Llaneza, A, Lo, W, Macinnis, R J, Mannermaa, A, Manoochehri, M, Margolin, S, Martinez, M E, Mclean, C, Meindl, A, Menon, U, Nevanlinna, H, Newman, W G, Nodora, J, Offit, K, Olsson, H, Orr, N, Park-simon, T, Patel, A V, Peto, J, Pita, G, Plaseska-karanfilska, D, Prentice, R, Punie, K, Pylkäs, K, Radice, P, Rennert, G, Romero, A, Rüdiger, T, Saloustros, E, Sampson, S, Sandler, D P, Sawyer, E J, Schmutzler, R K, Schoemaker, M J, Schöttker, B, Sherman, M E, Shu, X, Smichkoska, S, Southey, M C, Spinelli, J J, Swerdlow, A J, Tamimi, R M, Tapper, W J, Taylor, J A, Teras, L R, Terry, M B, Torres, D, Troester, M A, Vachon, C M, Van Deurzen, C H M, Van Veen, E M, Wagner, P, Weinberg, C R, Wendt, C, Wesseling, J, Winqvist, R, Wolk, A, Yang, X R, Zheng, W, Couch, F J, Simard, J, Kraft, P, Easton, D F, Pharoah, P D P, Schmidt, M K, García-closas, M & Chatterjee, N 2022, ' Common variants in breast cancer risk loci predispose to distinct tumor subtypes ', Breast Cancer Research, vol. 24, no. 1, 2 . https://doi.org/10.1186/s13058-021-01484-x
NBCS Collaborators, ABCTB Investigators & kConFab/AOCS Investigators 2022, ' Common variants in breast cancer risk loci predispose to distinct tumor subtypes ', Breast Cancer Research, vol. 24, no. 1, 2 . https://doi.org/10.1186/s13058-021-01484-x
Breast Cancer Research
Breast Cancer Research : BCR
Breast Cancer Research, 24(1):2. BioMed Central Ltd.
Breast Cancer Research, Vol 24, Iss 1, Pp 1-13 (2022)
Breast Cancer Research, 24. BMC
Ahearn, T U, Zhang, H, Michailidou, K, Milne, R L, Bolla, M K, Dennis, J, Dunning, A M, Lush, M, Wang, Q, Andrulis, I L, Anton-Culver, H, Arndt, V, Aronson, K J, Auer, P L, Augustinsson, A, Baten, A, Becher, H, Behrens, S, Benitez, J, Bermisheva, M, Blomqvist, C, Bojesen, S E, Bonanni, B, Børresen-Dale, A L, Brauch, H, Brenner, H, Brooks-Wilson, A, Brüning, T, Burwinkel, B, Buys, S S, Canzian, F, Castelao, J E, Chang-Claude, J, Chanock, S J, Chenevix-Trench, G, Clarke, C L, Sahlberg, K K, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, M M, Sauer, T, Haakensen, V, Engebråten, O, Naume, B, Fosså, A, Kiserud, C E, Reinertsen, K V, Helland, Å, Riis, M, kConFab/AOCS Investigators, NBCS Collaborators & ABCTB Investigators 2022, ' Common variants in breast cancer risk loci predispose to distinct tumor subtypes ', Breast Cancer Research, vol. 24, no. 1, 2 . https://doi.org/10.1186/s13058-021-01484-x

Background Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4468d8ba53c076b4ad26df74bb91f42b
https://eprints.soton.ac.uk/437411/