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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

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