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

by Baxter, JS, Johnson, N, Tomczyk, K, Gillespie, A, Maguire, S, Brough, R, Fachal, L, Michailidou, K, Bolla, MK, Wang, Q, Dennis, J, Ahearn, TU, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arndt, V, Aronson, KJ, Augustinsson, A, Becher, H, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bogdanova, NV, Bojesen, SE, Brenner, H, Brucker, SY, Cai, Q, Campa, D, Canzian, F, Castelao, JE, Chan, TL, Chang-Claude, J, Chanock, SJ, Chenevix-Trench, G, Choi, JY, Clarke, CL, Colonna, S, Conroy, DM, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Dörk, T, Dossus, L, Dwek, M, Eccles, DM, Ekici, AB, Eliassen, AH, Engel, C, Fasching, PA, Figueroa, J, Flyger, H, Gago-Dominguez, M, Gao, C, García-Closas, M, García-Sáenz, JA, Ghoussaini, M, Giles, GG, Goldberg, MS, González-Neira, A, Guénel, P, Gündert, M, Haeberle, L, Hahnen, E, Haiman, CA, Hall, P, Hamann, U, Hartman, M, Hatse, S, Hauke, J, Hollestelle, A, Hoppe, R, Hopper, JL, Hou, MF, Ito, H, Iwasaki, M, Jager, A, Jakubowska, A, Janni, W, John, EM, Joseph, V, Jung, A, Kaaks, R, Kang, D, Keeman, R, Khusnutdinova, E, Kim, SW, Kosma, VM, Kraft, P, Kristensen, VN, Kubelka-Sabit, K, Kurian, AW, Kwong, A, Lacey, JV, Lambrechts, D, Larson, NL, Larsson, SC
Published 2021

Work production of quantum rotor engines

by Colombo, M, Lòpez-Perolio, I, Meeks, H.D, Caleca, L, Parsons, M.T, Li, H, De Vecchi, G, Tudini, E, Foglia, C, Mondini, P, Manoukian, S, Behar, R, Garcia, E.B.G, Meindl, A, Montagna, M, Niederacher, D, Schmidt, A.Y, Varesco, L, Wappenschmidt, B, Bolla, M.K, Dennis, J, Michailidou, K, Wang, Q, Aittomäki, K, Andrulis, I.L, Anton-Culver, H, Arndt, V, Beckmann, M.W, Beeghly-Fadel, A, Benitez, J, Boeckx, B, Bogdanova, N.V, Bojesen, S.E, Bonanni, B, Brauch, H, Brenner, H, Burwinkel, B, Chang-Claude, J, Conroy, D.M, Couch, F.J, Cox, A, Cross, S.S, Czene, K, Devilee, P, Dörk, T, Eriksson, M, Fasching, P.A, Figueroa, J, Fletcher, O, Flyger, H, Gabrielson, M, García-Closas, M, Giles, G.G, González-Neira, A, Guénel, P, Haiman, C.A, Hall, P, Hamann, U, Hartman, M, Hauke, J, Hollestelle, A, Hopper, J.L, Jakubowska, A, Jung, A, Kosma, V.-M, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubinski, J, Mannermaa, A, Margolin, S, Miao, H, Milne, R.L, Neuhausen, S.L, Nevanlinna, H, Olson, J.E, Peterlongo, P, Peto, J, Pylkäs, K, Sawyer, E.J, Schmidt, M.K, Schmutzler, R.K, Schneeweiss, A, Schoemaker, M.J, See, M.H, Southey, M.C, Swerdlow, A, Teo, S.H, Toland, A.E, Tomlinson, I, Truong, T, van Asperen, C.J, van den Ouweland, A.M.W, van der Kolk, L.E, Winqvist, R, Yannoukakos, D, Zheng, W, Dunning, A.M, Easton, D.F, Henderson, A, Hogervorst, F.B.L, Izatt, L, Offitt, K, Side, L.E, van Rensburg, E.J, Embrace, S, Hebon, S, McGuffog, L, Antoniou, A.C, Chenevix-Trench, G, Spurdle, A.B, Goldgar, D.E, Hoya, M.D.L, Radice, P, kConFab/AOCS Investigators, Seah, S, Nimmrichter, S, Scarani, V
Published 2020

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

by Colombo, M, Lòpez-Perolio, I, Meeks, H.D, Caleca, L, Parsons, M.T, Li, H, De Vecchi, G, Tudini, E, Foglia, C, Mondini, P, Manoukian, S, Behar, R, Garcia, E.B.G, Meindl, A, Montagna, M, Niederacher, D, Schmidt, A.Y, Varesco, L, Wappenschmidt, B, Bolla, M.K, Dennis, J, Michailidou, K, Wang, Q, Aittomäki, K, Andrulis, I.L, Anton-Culver, H, Arndt, V, Beckmann, M.W, Beeghly-Fadel, A, Benitez, J, Boeckx, B, Bogdanova, N.V, Bojesen, S.E, Bonanni, B, Brauch, H, Brenner, H, Burwinkel, B, Chang-Claude, J, Conroy, D.M, Couch, F.J, Cox, A, Cross, S.S, Czene, K, Devilee, P, Dörk, T, Eriksson, M, Fasching, P.A, Figueroa, J, Fletcher, O, Flyger, H, Gabrielson, M, García-Closas, M, Giles, G.G, González-Neira, A, Guénel, P, Haiman, C.A, Hall, P, Hamann, U, Hartman, M, Hauke, J, Hollestelle, A, Hopper, J.L, Jakubowska, A, Jung, A, Kosma, V.-M, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubinski, J, Mannermaa, A, Margolin, S, Miao, H, Milne, R.L, Neuhausen, S.L, Nevanlinna, H, Olson, J.E, Peterlongo, P, Peto, J, Pylkäs, K, Sawyer, E.J, Schmidt, M.K, Schmutzler, R.K, Schneeweiss, A, Schoemaker, M.J, See, M.H, Southey, M.C, Swerdlow, A, Teo, S.H, Toland, A.E, Tomlinson, I, Truong, T, van Asperen, C.J, van den Ouweland, A.M.W, van der Kolk, L.E, Winqvist, R, Yannoukakos, D, Zheng, W, Dunning, A.M, Easton, D.F, Henderson, A, Hogervorst, F.B.L, Izatt, L, Offitt, K, Side, L.E, van Rensburg, E.J, Embrace, S, Hebon, S, McGuffog, L, Antoniou, A.C, Chenevix-Trench, G, Spurdle, A.B, Goldgar, D.E, Hoya, M.D.L, Radice, P, kConFab/AOCS Investigators, Seah, S
Published 2020

Two truncating variants in FANCC and breast cancer risk

by Dörk, T., Peterlongo, P., Mannermaa, A., Bolla, M.K., Wang, Q., Dennis, J., Ahearn, T., Andrulis, I.L., Anton-Culver, H., Arndt, V., Aronson, K.J., Augustinsson, A., Freeman, L.E.B., Beckmann, M.W., Beeghly-Fadiel, A., Behrens, S., Bermisheva, M., Blomqvist, C., Bogdanova, N.V., Bojesen, S.E., Brauch, H., Brenner, H., Burwinkel, B., Canzian, F., Chan, T.L., Chang-Claude, J., Chanock, S.J., Choi, J.-Y., Christiansen, H., Clarke, C.L., Couch, F.J., Czene, K., Daly, M.B., dos-Santos-Silva, I., Dwek, M., Eccles, D.M., Ekici, A.B., Eriksson, M., Evans, D.G., Fasching, P.A., Figueroa, J., Flyger, H., Fritschi, L., Gabrielson, M., Gago-Dominguez, M., Gao, C., Gapstur, S.M., García-Closas, M., García-Sáenz, J.A., Gaudet, M.M., Giles, G.G., Goldberg, M.S., Goldgar, D.E., Guénel, P., Haeberle, L., Haiman, C.A., Håkansson, N., Hall, P., Hamann, U., Hartman, M., Hauke, J., Hein, A., Hillemanns, P., Hogervorst, F.B.L., Hooning, M.J., Hopper, J.L., Howell, T., Huo, D., Ito, H., Iwasaki, M., Jakubowska, A., Janni, W., John, E.M., Jung, A., Kaaks, R., Kang, D., Kapoor, P.M., Khusnutdinova, E., Kim, S.-W., Kitahara, C.M., Koutros, S., Kraft, P., Kristensen, V.N., Kwong, A., Lambrechts, D., Marchand, L.L., Li, J., Lindström, S., Linet, M., Lo, W.-Y., Long, J., Lophatananon, A., Lubi?ski, J., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, E., Matsuo, K., Mavroudis, D., Meindl, A., Menon, U., Milne, R.L., Mohd Taib, N.A., Muir, K., Mulligan, A.M., Neuhausen, S.L., Nevanlinna, H., Neven, P., Newman, W.G., Offit, K., Olopade, O.I., Olshan, A.F., Olson, J.E., Olsson, H., Park, S.K., Park-Simon, T.-W., Peto, J., Plaseska-Karanfilska, D., Pohl-Rescigno, E., Presneau, N., Rack, B., Radice, P., Rashid, M.U., Rennert, G., Rennert, H.S., Romero, A., Ruebner, M., Saloustros, E., Schmidt, M.K., Schmutzler, R.K., Schneider, M.O., Schoemaker, M.J., Scott, C., Shen, C.-Y., Shu, X.-O., Simard, J., Slager, S., Smichkoska, S., Southey, M.C., Spinelli, J.J., Stone, J., Surowy, H., Swerdlow, A.J., Tamimi, R.M., Tapper, W.J., Teo, S.H., Terry, M.B., Toland, A.E., Tollenaar, R.A.E.M., Torres, D., Torres-Mejía, G., Troester, M.A., Truong, T., Tsugane, S., Untch, M., Vachon, C.M., Ouweland, A.M.W., Veen, E.M., Vijai, J., Wendt, C., Wolk, A., Yu, J.-C., Zheng, W., Ziogas, A., Ziv, E., Balleine, R., Baxter, R., Braye, S., Carpenter, J., Dahlstrom, J., Forbes, J., Lee, C.S., Marsh, D., Morey, A., Pathmanathan, N., Scott, R., Simpson, P., Spigelman, A., Wilcken, N., Yip, D., Zeps, N., Børresen-Dale, A.-L., Grenaker Alnæs, G.I., Sahlberg, K.K., Ottestad, L., Kåresen, R., Schlichting, E.
Published 2022