FANCM missense variants and breast cancer risk

Autor: Figlioli, G., Billaud, A., Ahearn, T.U., Antonenkova, N.N., Becher, H., Beckmann, M.W., Behrens, S., Benitez, J., Bermisheva, M., Blok, M.J., Bogdanova, N.V., Bonanni, B., Burwinkel, B., Camp, N.J., Campbell, A., Castelao, J.E., Cessna, M.H., Chanock, S.J., Czene, K., Devilee, P., Dork, T., Engel, C., Eriksson, M., Fasching, P.A., Figueroa, J.D., Gabrielson, M., Gago-Dominguez, M., Garcia-Closas, M., Gonzalez-Neira, A., Grassmann, F., Guenel, P., Gundert, M., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Harrington, P.A., He, W., Hillemanns, P., Hollestelle, A., Hooning, M.J., Hoppe, R., Howell, A., Humphreys, K., Jager, A., Jakubowska, A., Khusnutdinova, E.K., Ko, Y.D., Kristensen, V.N., Lindblom, A., Peterlongo, Paolo

Publikováno v: European Journal of Human Genetics, 31, 578-587. Nature Publishing Group
European Journal of Human Genetics, 31(5), 578-587. Nature Publishing Group
NBCS Collaborators 2023, ' FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women ', European journal of human genetics : EJHG, pp. 1-10 . https://doi.org/10.1038/s41431-022-01257-w

Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family hi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b682a21a50915c716620b9a805c5e80
http://www.scopus.com/inward/record.url?scp=85159201147&partnerID=8YFLogxK

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