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

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Autor: Zhang, H, Ahearn, TU, Lecarpentier, J, Barnes, D, Beesley, J, Qi, G, Jiang, X, O’Mara, TA, Zhao, N, Bolla, MK, Dunning, AM, Dennis, J, Wang, Q, Ful, ZA, Aittomäki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Aronson, KJ, Arun, BK, Auer, PL, Azzollini, J, Barrowdale, D, Becher, H, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bialkowska, K, Blanco, A, Blomqvist, C, Bogdanova, NV, Bojesen, SE, Bonanni, B, Bondavalli, D, Borg, A, Brauch, H, Brenner, H, Briceno, I, Broeks, A, Brucker, SY, Brüning, T, Burwinkel, B, Buys, SS, Byers, H, Caldés, T, Caligo, MA, Calvello, M, Campa, D, Castelao, JE, Chang-Claude, J, Chanock, SJ, Christiaens, M, Christiansen, H, Chung, WK, Claes, KBM, Clarke, CL, Cornelissen, S, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Diez, O, Domchek, SM, Dörk, T, Dwek, M, Eccles, DM, Ekici, AB, Evans, DG, Fasching, PA, Figueroa, J, Foretova, L, Fostira, F, Friedman, E, Frost, D, Gago-Dominguez, M, Gapstur, SM, Garber, J, García-Sáenz, JA, Gaudet, MM, Gayther, SA, Giles, GG, Godwin, AK, Goldberg, MS, Goldgar, DE, González-Neira, A, Greene, MH, Gronwald, J, Guénel, P, Häberle, L, Hahnen, E, Haiman, CA, Hake, CR, Hall, P, Hamann, U, Harkness, EF, Heemskerk-Gerritsen, BAM, Hillemanns, P, Hogervorst, FBL, Holleczek, B, Hollestelle, A, Hooning, MJ, Hoover, RN, Hopper, JL, Howell, A, Huebner, H, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Jager, A, Jakimovska, M, Jakubowska, A, James, P, Janavicius, R, Janni, W, John, EM, Jones, ME, Jung, A, Kaaks, R, Kapoor, PM, Karlan, BY, Keeman, R, Khan, S, Khusnutdinova, E, Kitahara, CM, Ko, Y-D, Konstantopoulou, I, Koppert, LB, Koutros, S, Kristensen, VN, Laenkholm, A-V, Lambrechts, D, Larsson, SC, Laurent-Puig, P, Lazaro, C, Lazarova, E, Lejbkowicz, F, Leslie, G, Lesueur, F, Lindblom, A, Lissowska, J, Lo, W-Y, Loud, JT, Lubinski, J, Lukomska, A, MacInnis, RJ, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, ME, Matricardi, L, McGuffog, L, McLean, C, Mebirouk, N, Meindl, A, Menon, U, Miller, A, Mingazheva, E, Montagna, M, Mulligan, AM, Mulot, C, Muranen, TA, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Neven, P, Newman, WG, Nielsen, FC, Nikitina-Zake, L, Nodora, J, Offit, K, Olah, E, Olopade, OI, Olsson, H, Orr, N, Papi, L, Papp, J, Park-Simon, T-W, Parsons, MT, Peissel, B, Peixoto, A, Peshkin, B, Peterlongo, P, Peto, J, Phillips, K-A, Piedmonte, M, Plaseska-Karanfilska, D, Prajzendanc, K, Prentice, R, Prokofyeva, D, Rack, B, Radice, P, Ramus, SJ, Rantala, J, Rashid, MU, Rennert, G, Rennert, HS, Risch, HA, Romero, A, Rookus, MA, Rübner, M, Rüdiger, T, Saloustros, E, Sampson, S, Sandler, DP, Sawyer, EJ, Scheuner, MT, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Schöttker, B, Schürmann, P, Senter, L, Sharma, P, Sherman, ME, Shu, X-O, Singer, CF, Smichkoska, S, Soucy, P, Southey, MC, Spinelli, JJ, Stone, J, Stoppa-Lyonnet, D, Swerdlow, AJ, Szabo, CI, Tamimi, RM, Tapper, WJ, Taylor, JA, Teixeira, MR, Terry, M, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Tollenaar, RAEM, Tomlinson, I, Torres, D, Troester, MA, Truong, T, Tung, N, Untch, M, Vachon, CM, van den Ouweland, AMW, van der Kolk, LE, van Veen, EM, vanRensburg, EJ, Vega, A, Wappenschmidt, B, Weinberg, CR, Weitzel, JN, Wildiers, H, Winqvist, R, Wolk, A, Yang, XR, Yannoukakos, D, Zheng, W, Zorn, KK, Milne, RL, Kraft, P, Simard, J, Pharoah, PDP, Michailidou, K, Antoniou, AC, Schmidt, MK, Chenevix-Trench, G, Easton, DF, Chatterjee, N, García-Closas, M

Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1,2,3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BR

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::42ca1a0a4e290f0a78a5081dbad34741
https://eprints.whiterose.ac.uk/161038/3/Discovery_SNPs_paper_09052019.pdf

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

Autor: Colombo, M, Lopez-Perolio, I, Meeks, H D, Caleca, L, Parsons, MT, Li, HY, De Vecchi, G, Tudini, E, Foglia, C, Mondini, P, Manoukian, S, Behar, R, Garcia, EBG, Meindl, A, Montagna, M, Niederacher, D, Schmidt, AY, Varesco, L, Wappenschmidt, B, Bolla, MK, Dennis, J, Michailidou, K, Wang, Q, Aittomaki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Beckmann, MW, Beeghly-Fadel, A, Benitez, J, Boeckx, B, Bogdanova, NV, Bojesen, SE, Bonanni, B, Brauch, H, Brenner, H, Burwinkel, B, Chang-Claude, J, Conroy, D M, Couch, FJ, Cox, A, Cross, SS, Czene, K, Devilee, P, Dork, T, Eriksson, M, Fasching, PA, Figueroa, J, Fletcher, O, Flyger, H, Gabrielson, M, Garcia-Closas, M, Giles, GG, Gonzalez-Neira, A, Guenel, P, Haiman, CA, Hall, P, Hamann, U, Hartman, M, Hauke, J, Hollestelle, Antoinette, Hopper, JL, Jakubowska, A, Jung, A, Kosma, VM, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubinski, J, Mannermaa, A, Margolin, S, Miao, H, Milne, RL, Neuhausen, SL, Nevanlinna, H, Olson, JE, Peterlongo, P, Peto, J, Pylkas, K, Sawyer, EJ, Schmidt, MK (Marjanka), Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, See, MH, Southey, MC, Swerdlow, A, Teo, SH, Toland, AE, Tomlinson, I, Truong, T, van Asperen, CJ, van den Ouweland, Ans, van der Kolk, LE, Winqvist, R, Yannoukakos, D, Zheng, W, Dunning, AM, Easton, DF, Henderson, A, Hogervorst, FBL, Izatt, L, Offitt, K, Side, LE, van Rensburg, EJ, McGuffog, L, Antoniou, AC, Chenevix-Trench, G, Spurdle, AB, Goldgar, DE, de la Hoya, M, Radice, P

Publikováno v: Human Mutation, 39(5), 729-741. Wiley-Liss Inc.

Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real‐time PCR and digital PCR (dPCR), the BRCA2 isoforms r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::157d9324d87a5fa46f853db4b89aab51
http://urn.fi/urn:nbn:fi-fe2018111948390

Body mass index and breast cancer survival: a Mendelian randomization analysis

Autor: Guo, Q, Burgess, S, Turman, C, Bolla, MK, Wang, Q, Lush, M, Abraham, J, Aittomäki, K, Andrulis, IL, Apicella, C, Arndt, V, Barrdahl, M, Benitez, J, Berg, CD, Blomqvist, C, Bojesen, SE, Bonanni, B, Brand, JS, Brenner, H, Broeks, A, Burwinkel, B, Caldas, C, Campa, D, Canzian, F, Chang-Claude, J, Chanock, SJ, Chin, S-F, Couch, FJ, Cox, A, Cross, SS, Cybulski, C, Czene, K, Darabi, H, Devilee, P, Diver, WR, Dunning, AM, Earl, HM, Eccles, DM, Ekici, AB, Eriksson, M, Evans, DG, Fasching, PA, Figueroa, J, Flesch-Janys, D, Flyger, H, Gapstur, SM, Gaudet, MM, Giles, GG, Glendon, G, Grip, M, Gronwald, J, Haeberle, L, Haiman, CA, Hall, P, Hamann, U, Hankinson, S, Hartikainen, JM, Hein, A, Hiller, L, Hogervorst, FB, Holleczek, B, Hooning, MJ, Hoover, RN, Humphreys, K, Hunter, DJ, Hüsing, A, Jakubowska, A, Jukkola-Vuorinen, A, Kaaks, R, Kabisch, M, Kataja, V, Investigators, Kconfab/Aocs, Knight, JA, Koppert, LB, Kosma, V-M, Kristensen, VN, Lambrechts, D, Le Marchand, L, Li, J, Lindblom, A, Lindström, S, Lissowska, J, Lubinski, J, Machiela, MJ, Mannermaa, A, Manoukian, S, Margolin, S, Marme, F, Martens, JWM, McLean, C, Menéndez, P, Milne, RL, Mulligan, A, Muranen, TA, Nevanlinna, H, Neven, P, Nielsen, SF, Nordestgaard, BG, Olson, JE, Perez, JIA, Peterlongo, P, Phillips, K-A, Poole, CJ, Pylkäs, K, Radice, P, Rahman, N, Rüdiger, T, Rudolph, A, Sawyer, EJ, Schumacher, F, Seibold, P, Seynaeve, C, Shah, M, Smeets, A, Southey, MC, Tollenaar, RAEM, Tomlinson, I, Tsimiklis, H, Ulmer, H-U, Vachon, C, Van Den Ouweland, AMW, Veer, LJ, Wildiers, H, Willett, W, Winqvist, R, Zamora, MP, Chenevix-Trench, G, Dörk, T, Easton, DF, García-Closas, M, Kraft, P, Hopper, JL, Zheng, W, Schmidt, MK, Pharoah, PDP

Publikováno v: International Journal of Epidemiology, 46(6), 1814-1822. Oxford University Press
International Journal of Epidemiology, 46(6), 1814-1822
International Journal of Epidemiology

Background There is increasing evidence that elevated body mass index (BMI) is associated with reduced survival for women with breast cancer. However, the underlying reasons remain unclear. We conducted a Mendelian randomization analysis to investiga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8730ee7a7e194df74eef075390ba00c2
https://pure.eur.nl/en/publications/569a7e30-e659-4c70-8c1a-a662cabdc890

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Autor: Lawrenson, K, Kar, S, McCue, K, Kuchenbaeker, K, Michailidou, K, Tyrer, J, Beesley, J, Ramus, SJ, Li, Q, Delgado, MK, Lee, JM, Aittomäki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Arun, BK, Arver, B, Bandera, EV, Barile, M, Barkardottir, RB, Barrowdale, D, Beckmann, MW, Benitez, J, Berchuck, A, Bisogna, M, Bjorge, L, Blomqvist, C, Blot, W, Bogdanova, N, Bojesen, A, Bojesen, SE, Bolla, MK, Bonanni, B, Børresen-Dale, AL, Brauch, H, Brennan, P, Brenner, H, Bruinsma, F, Brunet, J, Buhari, SA, Burwinkel, B, Butzow, R, Buys, SS, Cai, Q, Caldes, T, Campbell, I, Canniotto, R, Chang-Claude, J, Chiquette, J, Choi, JY, Claes, KBM, Cook, LS, Cox, A, Cramer, DW, Cross, SS, Cybulski, C, Czene, K, Daly, MB, Damiola, F, Dansonka-Mieszkowska, A, Darabi, H, Dennis, J, Devilee, P, Diez, O, Doherty, JA, Domchek, SM, Dorfling, CM, Dörk, T, Dumont, M, Ehrencrona, H, Ejlertsen, B, Ellis, S, Engel, C, Lee, E, Evans, DG, Fasching, PA, Feliubadalo, L, Figueroa, J, Flesch-Janys, D

Publikováno v: Lawrenson, K; Kar, S; McCue, K; Kuchenbaeker, K; Michailidou, K; Tyrer, J; et al.(2016). Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus. Nature Communications, 7. doi: 10.1038/ncomms12675. UCLA: Retrieved from: http://www.escholarship.org/uc/item/78d894k9

© 2016 The Author(s). A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::cbfcb060bbae83ad74355089ef7a71bf
http://www.escholarship.org/uc/item/78d894k9