EPICURE Ensemble Pretrained Models for Extracting Cancer Mutations from Literature

Autor: Cao, Jiarun, van Veen, Elke M, Peek, Niels, Renehan, Andrew G, Ananiadou, Sophia

To interpret the genetic profile present in a patient sample, it is necessary to know which mutations have important roles in the development of the corresponding cancer type. Named entity recognition is a core step in the text mining pipeline which

Externí odkaz: http://arxiv.org/abs/2106.07722

The impact of coding germline variants on contralateral breast cancer risk and survival

Autor: Sahlberg, Kristine K., Børresen-Dale, Anne-Lise, Gram, Inger Torhild, Olsen, Karina Standahl, Engebråten, Olav, Naume, Bjørn, Geisler, Jürgen, OSBREAC, Grenaker Alnæs, Grethe I., Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Cao, Michelle, Chakrabarti, Anannya, Chauhan, Deepa, Chauhan, Manisha, Chenevix-Trench, Georgia, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Courtney, Eliza, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edkins, Ted, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, James, Paul, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lee, Jason, Li, Shuai, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Loi, Sherene, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Meiser, Bettina, Milne, Roger, Nightingale, Sophie, O'Connell, Shona, O'Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Pang, Jia-Min, Pathak, Gargi, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Ramus, Susan, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Skandarajah, Anita, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Scott, Rodney, Scott, Clare, Sexton, Adrienne, Shelling, Andrew, Simpson, Peter, Southey, Melissa, Spurdle, Amanda, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, Young, Mary Ann, Zaheed, Milita, Morra, Anna, Mavaddat, Nasim, Muranen, Taru A., Ahearn, Thomas U., Allen, Jamie, Andrulis, Irene L., Auvinen, Päivi, Becher, Heiko, Behrens, Sabine, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Brauch, Hiltrud, Camp, Nicola J., Carvalho, Sara, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Czene, Kamila, Decker, Brennan, Dennis, Joe, Dörk, Thilo, Dorling, Leila, Dunning, Alison M., Ekici, Arif B., Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, Gago-Dominguez, Manuela, García-Closas, Montserrat, Geurts-Giele, Willemina R.R., Giles, Graham G., Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Hall, Per, Hamann, Ute, Harrington, Patricia A., He, Wei, Heikkilä, Päivi, Hooning, Maartje J., Hoppe, Reiner, Howell, Anthony, Humphreys, Keith, Jakubowska, Anna, Jung, Audrey Y., Keeman, Renske, Kristensen, Vessela N., Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mulligan, Anna Marie, Newman, William G., Park-Simon, Tjoung-Won, Peterlongo, Paolo, Pharoah, Paul D.P., Rhenius, Valerie, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Spurdle, Amanda B., Tomlinson, Ian, Truong, Thérèse, van Veen, Elke M., Vreeswijk, Maaike P.G., Wang, Qin, Wendt, Camilla, Yang, Xiaohong R., Nevanlinna, Heli, Devilee, Peter, Easton, Douglas F., Schmidt, Marjanka K.

Publikováno v: In The American Journal of Human Genetics 2 March 2023 110(3):475-486

Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

Autor: Figlioli, Gisella, Billaud, Amandine, Wang, Qin, Bolla, Manjeet K, Dennis, Joe, Lush, Michael, Kvist, Anders, Adank, Muriel A, Ahearn, Thomas U, Antonenkova, Natalia N, Auvinen, Päivi, Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Brüning, Thomas, Camp, Nicola J, Campbell, Archie, Castelao, Jose E, Cessna, Melissa H, Nbcs Collaborators, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Eriksson, Mikael, Fasching, Peter A, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Glendon, Gord, Gómez Garcia, Encarna B, González-Neira, Anna, Grassmann, Felix, Guénel, Pascal, Hahnen, Eric, Hamann, Ute, Hillemanns, Peter, Hooning, Maartje J, Hoppe, Reiner, Howell, Anthony, Humphreys, Keith, KConFab Investigators, Jakubowska, Anna, Khusnutdinova, Elza K, Kristensen, Vessela N, Lindblom, Annika, Loizidou, Maria A, Lubiński, Jan, Mannermaa, Arto, Maurer, Tabea, Mavroudis, Dimitrios, Newman, William G, Obi, Nadia, Panayiotidis, Mihalis I, Radice, Paolo, Rashid, Muhammad U, Rhenius, Valerie, Ruebner, Matthias, Saloustros, Emmanouil, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Shah, Mitul, Southey, Melissa C, Tomlinson, Ian, Truong, Thérèse, Van Veen, Elke M, Wendt, Camilla, Yang, Xiaohong R, Michailidou, Kyriaki, Dunning, Alison M, Pharoah, Paul DP, Easton, Douglas F, Andrulis, Irene L, Evans, D Gareth, Hollestelle, Antoinette, Chang-Claude, Jenny, Milne, Roger L, Peterlongo, Paolo

FANCM germline protein truncating variants (PTVs) are moderate-risk factors for ER-negative breast cancer. We previously described the spectrum of FANCM PTVs in 114 European breast cancer cases. In the present, larger cohort, we report the spectrum a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47b86d95e4d21b5c39d6fd0f3d80dc51
https://www.repository.cam.ac.uk/handle/1810/350861

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

Autor: Morra, Anna, Schreurs, Maartje A C, Andrulis, Irene L, Anton-Culver, Hoda, Augustinsson, Annelie, Beckmann, Matthias W, Behrens, Sabine, Bojesen, Stig E, Bolla, Manjeet K, Brauch, Hiltrud, Broeks, Annegien, Buys, Saundra S, Camp, Nicola J, Castelao, Jose E, Cessna, Melissa H, Chang-Claude, Jenny, Chung, Wendy K, Colonna, Sarah V, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Devilee, Peter, Dörk, Thilo, Dunning, Alison M, Dwek, Miriam, Easton, Douglas F, Eccles, Diana M, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Fehm, Tanja N, Figueroa, Jonine D, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Genkinger, Jeanine, Grassmann, Felix, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Hamann, Ute, Harrington, Patricia A, Hartikainen, Jaana M, Hoppe, Reiner, Hopper, John L, Houlston, Richard S, Howell, Anthony, Jakubowska, Anna, Janni, Wolfgang, Jernström, Helena, John, Esther M, Johnson, Nichola, Jones, Michael E, Kristensen, Vessela N, Kurian, Allison W, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Lubiński, Jan, Lux, Michael P, Mannermaa, Arto, Mavroudis, Dimitrios, Mulligan, Anna Marie, Muranen, Taru A, Nevanlinna, Heli, Nevelsteen, Ines, Neven, Patrick, Newman, William G, Obi, Nadia, Offit, Kenneth, Olshan, Andrew F, Park-Simon, Tjoung-Won, Patel, Alpa V, Peterlongo, Paolo, Phillips, Kelly-Anne, Plaseska-Karanfilska, Dijana, Polley, Eric C, Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rashid, Muhammad U, Rhenius, Valerie, Robson, Mark, Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Schuetze, Sabine, Scott, Christopher, Shah, Mitul, Smichkoska, Snezhana, Southey, Melissa C, Tapper, William J, Teras, Lauren R, Tollenaar, Rob A E M, Tomczyk, Katarzyna, Tomlinson, Ian, Troester, Melissa A, Vachon, Celine M, van Veen, Elke M, Wang, Qin, Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Ziogas, Argyrios, Hall, Per, Pharoah, Paul D P, Adank, Muriel A, Hollestelle, Antoinette, Schmidt, Marjanka K, Hooning, Maartje J

Publikováno v: Morra, A, Schreurs, M A C, Andrulis, I L, Anton-Culver, H, Augustinsson, A, Beckmann, M W, Behrens, S, Bojesen, S E, Bolla, M K, Brauch, H, Broeks, A, Buys, S S, Camp, N J, Castelao, J E, Cessna, M H, Chang-Claude, J, Chung, W K, Colonna, S V, Couch, F J, Cox, A, Cross, S S, Czene, K, Daly, M B, Dennis, J, Devilee, P, Dörk, T, Dunning, A M, Dwek, M, Easton, D F, Eccles, D M, Eriksson, M, Evans, D G, Fasching, P A, Fehm, T N, Figueroa, J D, Flyger, H, Gabrielson, M, Gago-Dominguez, M, García-Closas, M, García-Sáenz, J A, Genkinger, J, Grassmann, F, Gündert, M, Hahnen, E, Haiman, C A, Hamann, U, Harrington, P A, Hartikainen, J M, Hoppe, R, Hopper, J L, Houlston, R S, Howell, A, Jakubowska, A, Janni, W, Jernström, H, John, E M, Johnson, N, Jones, M E, Kristensen, V N, Kurian, A W, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubiński, J, Lux, M P, Mannermaa, A, Mavroudis, D, Mulligan, A M, Muranen, T A, Nevanlinna, H, Nevelsteen, I, Neven, P, Newman, W G, Obi, N, Offit, K, Olshan, A F, Park-Simon, T-W, Patel, A V, Peterlongo, P, Phillips, K-A, Plaseska-Karanfilska, D, Polley, E C, Presneau, N, Pylkäs, K, Rack, B, Radice, P, Rashid, M U, Rhenius, V, Robson, M, Romero, A, Saloustros, E, Sawyer, E J, Schmutzler, R K, Schuetze, S, Scott, C, Shah, M, Smichkoska, S, Southey, M C, Tapper, W J, Teras, L R, Tollenaar, R A E M, Tomczyk, K, Tomlinson, I, Troester, M A, Vachon, C M, van Veen, E M, Wang, Q, Wendt, C, Wildiers, H, Winqvist, R, Ziogas, A, Hall, P, Pharoah, P D P & Adank, M A & Hollestelle, A & Schmidt, M K & Hooning, M J 2023, ' Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival ', Cancer Medicine . https://doi.org/10.1002/cam4.6272

BACKGROUND: Breast cancer (BC) patients with a germline CHEK2 c.1100delC variant have an increased risk of contralateral BC (CBC) and worse BC-specific survival (BCSS) compared to non-carriers.AIM: To assessed the associations of CHEK2 c.1100delC, ra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3094::5b6333b29c1d9281235874135b0321de
https://hdl.handle.net/20.500.11820/8dd3f3bf-5e39-4ecb-98d8-59deadfed946

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