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Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

Autor: Amanda B. Spurdle, Manjeet K. Humphreys, Douglas F. Easton, Marjanka K. Schmidt, F.E. van Leeuwen, Letitia D. Smith, R.A.E.M. Tollenaar, Arto Mannermaa, Daehee Kang, Ian W. Brock, S. E. Bojesen, Jianjun Liu, Alfons Meindl, Melissa C. Southey, José Ignacio Arias, Louise A. Brinton, Jonathan Beesley, Keith Humphreys, Argyrios Ziogas, Jenny Chang-Claude, Laura Baglietto, I dos Santos Silva, G. Elliott, Caroline Seynaeve, Paul D.P. Pharoah, Antonenkova Nn, Peter Devilee, Janet E. Olson, Fergus J. Couch, Georgia Chenevix-Trench, Nicola F. Johnson, MW Reed, Ute Hamann, Vesa Kataja, Roger L. Milne, Nick Orr, Annegien Broeks, Sara Margolin, Dallas R. English, Natalia Bogdanova, Guillermo Pita, L.J. van 't Veer, Matthias W. Beckmann, Carl Blomqvist, M Garcia-Closas, Radka Platte, Keun-Young Yoo, Kristiina Aittomäki, H. Flyger, Dong-Young Noh, Reiner Strick, Iosif V. Zalutsky, Thilo Dörk, Alison M. Dunning, Peter Schürmann, Angela Cox, S. Chanock, Hiltrud Brauch, Melanie Maranian, Peter A. Fasching, Shahana Ahmed, Michael Bremer, Heli Nevanlinna, Tuomas Heikkinen, Kamila Czene, Jolanta Lissowska, Gianluca Severi, Claus R. Bartram, Regina Waltes, John L. Hopper, Zachary S. Fredericksen, Graham G. Giles, Arif B. Ekici, Yon-Dschun Ko, Annika Lindblom, Jonathan J. Morrison, Shan Wang-Gohrke, Rita K. Schmutzler, Julian Peto, Børge G. Nordestgaard, Barbara Burwinkel, Javier Benitez, Hoda Anton-Culver, Veli-Matti Kosma, Olivia Fletcher, Xianshu Wang, Per Hall, Alan Ashworth, C. J. van Asperen

Publikováno v: Fletcher, O, Johnson, N, dos Santos Silva, I, Orr, N, Ashworth, A, Nevanlinna, H, Heikkinen, T, Aittomaki, K, Blomqvist, C, Burwinkel, B, Bartram, C R, Meindl, A, Schmutzler, R K, Cox, A, Brock, I, Elliott, G, Reed, M W, Southey, M C, Smith, L, Spurdle, A B, Hopper, J L, Couch, F J, Olson, J E, Wang, X, Fredericksen, Z, Schurmann, P, Waltes, R, Bremer, M, Dork, T, Devilee, P, van Asperen, C J, Tollenaar, R A, Seynaeve, C, Hall, P, Czene, K, Humphreys, K, Liu, J, Ahmed, S, Dunning, A M, Maranian, M, Pharoah, P D, Chenevix-Trench, G, Beesley, J, Bogdanova, N V, Antonenkova, N N, Zalutsky, I V, Anton-Culver, H, Ziogas, A, Brauch, H, Ko, Y D, Hamann, U, Fasching, P A, Strick, R, Ekici, A B, Beckmann, M W, Giles, G G, Severi, G, Baglietto, L, English, D R, Milne, R L, Benitez, J, Arias, J I, Pita, G, Nordestgaard, B G, Bojesen, S E, Flyger, H, Kang, D, Yoo, K Y, Noh, D Y, Mannermaa, A, Kataja, V, Kosma, V M, Garcia-Closas, M, Chanock, S, Lissowska, J, Brinton, L A, Chang-Claude, J, Wang-Gohrke, S, Broeks, A, Schmidt, M K, van Leeuwen, F E, van 't Veer, L J, Margolin, S, Lindblom, A, Humphreys, M K, Morrison, J, Platte, R, Easton, D F & Peto, J 2010, ' Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls ', Cancer Epidemiology Biomarkers and Prevention, vol. 19, no. 9, pp. 2143-2151 . https://doi.org/10.1158/1055-9965.EPI-10-0374
Cancer Epidemiology Biomarkers and Prevention, 19(9), 2143-2151. American Association for Cancer Research Inc.
Capital Region of Denmark
Cancer Epidemiology Biomarkers & Prevention, 19(9), 2143-2151. American Association for Cancer Research Inc.

Background: Truncating mutations in ATM have been shown to increase the risk of breast cancer but the effect of missense variants remains contentious. Methods: We have genotyped five polymorphic (minor allele frequency, 0.9-2.6%) missense single nucl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7851e5102c0bcd5dafaf9c34829e9a64
https://hdl.handle.net/1871/45759

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