PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Autor: Southey, Melissa C, Goldgar, David E, Winqvist, Robert, Pylkäs, Katri, Couch, Fergus, Tischkowitz, Marc, Foulkes, William D, Dennis, Joe, Michailidou, Kyriaki, van Rensburg, Elizabeth J, Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L, Dörk, Thilo, Claes, Kathleen Bm, Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Tsimiklis, Helen, Odefrey, Fabrice A, Dowty, James G, Schmidt, Marjanka K, Broeks, Annegien, Hogervorst, Frans B, Verhoef, Senno, Carpenter, Jane, Clarke, Christine, Scott, Rodney J, Fasching, Peter A, Haeberle, Lothar, Ekici, Arif B, Beckmann, Matthias W, Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Bolla, Manjeet K, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Marme, Federik, Burwinkel, Barbara, Yang, Rongxi, Guénel, Pascal, Truong, Thérèse, Menegaux, Florence, Sanchez, Marie, Bojesen, Stig, Nielsen, Sune F, Flyger, Henrik, Benitez, Javier, Zamora, M Pilar, Perez, Jose Ignacio Arias, Menéndez, Primitiva, Anton-Culver, Hoda, Neuhausen, Susan, Ziogas, Argyrios, Clarke, Christina A, Brenner, Hermann, Arndt, Volker, Stegmaier, Christa, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V, Antonenkova, Natalia N, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, Spurdle, Amanda B, Investigators, kConFab, Australian Ovarian Cancer Study Group, Wauters, Els, Smeets, Dominiek, Beuselinck, Benoit, Floris, Giuseppe, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Olson, Janet E, Vachon, Celine, Pankratz, Vernon S, McLean, Catriona, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick, Le Marchand, Loic, Kristensen, Vessela, Alnæs, Grethe Grenaker, Zheng, Wei, Hunter, David J, Lindstrom, Sara, Hankinson, Susan E, Kraft, Peter, Andrulis, Irene, Knight, Julia A, Glendon, Gord, Mulligan, Anna Marie, Jukkola-Vuorinen, Arja, Grip, Mervi, Kauppila, Saila, Devilee, Peter, Tollenaar, Robert AEM, Seynaeve, Caroline, Hollestelle, Antoinette, Garcia-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J, Lissowska, Jolanta, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Eccles, Diana M, Rafiq, Sajjad, Tapper, William J, Gerty, Sue M, Hooning, Maartje J, Martens, John WM, Collée, J Margriet, Tilanus-Linthorst, Madeleine, Hall, Per, Li, Jingmei, Brand, Judith S, Humphreys, Keith, Cox, Angela, Reed, Malcolm WR, Luccarini, Craig, Baynes, Caroline, Dunning, Alison M, Hamann, Ute, Torres, Diana, Ulmer, Hans Ulrich, Rüdiger, Thomas, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Slager, Susan, Toland, Amanda E, Ambrosone, Christine B, Yannoukakos, Drakoulis, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Jones, Michael, González-Neira, Anna, Pita, Guillermo, Alonso, M Rosario, Álvarez, Nuria, Herrero, Daniel, Tessier, Daniel C, Vincent, Daniel, Bacot, Francois, Simard, Jacques, Dumont, Martine, Soucy, Penny, Eeles, Rosalind, Muir, Kenneth, Wiklund, Fredrik, Gronberg, Henrik, Schleutker, Johanna, Nordestgaard, Børge G, Weischer, Maren, Travis, Ruth C, Neal, David, Donovan, Jenny L, Hamdy, Freddie C, Khaw, Kay-Tee, Stanford, Janet L, Blot, William J, Thibodeau, Stephen, Schaid, Daniel J, Kelley, Joseph L, Maier, Christiane, Kibel, Adam S, Cybulski, Cezary, Cannon-Albright, Lisa, Butterbach, Katja, Park, Jong, Kaneva, Radka, Batra, Jyotsna, Teixeira, Manuel R, Kote-Jarai, Zsofia, Olama, Ali Amin Al, Benlloch, Sara, Renner, Stefan P, Hartmann, Arndt, Hein, Alexander, Ruebner, Matthias, Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Lambretchs, Sandrina, Doherty, Jennifer A, Rossing, Mary Anne, Nickels, Stefan, Eilber, Ursula, Wang-Gohrke, Shan, Odunsi, Kunle, Sucheston-Campbell, Lara E, Friel, Grace, Lurie, Galina, Killeen, Jeffrey L, Wilkens, Lynne R, Goodman, Marc T, Runnebaum, Ingo, Hillemanns, Peter A, Pelttari, Liisa M, Butzow, Ralf, Modugno, Francesmary, Edwards, Robert P, Ness, Roberta B, Moysich, Kirsten B, du Bois, Andreas, Heitz, Florian, Harter, Philipp, Kommoss, Stefan, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, Jensen, Allan, Kjaer, Susanne Krüger, Høgdall, Estrid, Peissel, Bernard, Bonanni, Bernardo, Bernard, Loris, Goode, Ellen L, Fridley, Brooke L, Vierkant, Robert A, Cunningham, Julie M, Larson, Melissa C, Fogarty, Zachary C, Kalli, Kimberly R, Liang, Dong, Lu, Karen H, Hildebrandt, Michelle AT, Wu, Xifeng, Levine, Douglas A, Dao, Fanny, Bisogna, Maria, Berchuck, Andrew, Iversen, Edwin S, Marks, Jeffrey R, Akushevich, Lucy, Cramer, Daniel W, Schildkraut, Joellen, Terry, Kathryn L, Poole, Elizabeth M, Stampfer, Meir, Tworoger, Shelley S, Bandera, Elisa V, Orlow, Irene, Olson, Sara H, Bjorge, Line, Salvesen, Helga B, van Altena, Anne M, Aben, Katja KH, Kiemeney, Lambertus A, Massuger, Leon FAG, Pejovic, Tanja, Bean, Yukie, Brooks-Wilson, Angela, Kelemen, Linda E, Cook, Linda S, Le, Nhu D, Górski, Bohdan, Gronwald, Jacek, Menkiszak, Janusz, Høgdall, Claus K, Lundvall, Lene, Nedergaard, Lotte, Engelholm, Svend Aage, Dicks, Ed, Tyrer, Jonathan, Campbell, Ian, McNeish, Iain, Paul, James, Siddiqui, Nadeem, Glasspool, Rosalind, Whittemore, Alice S, Rothstein, Joseph H, McGuire, Valerie, Sieh, Weiva, Cai, Hui, Shu, Xiao-Ou, Teten, Rachel T, Sutphen, Rebecca, McLaughlin, John R, Narod, Steven A, Phelan, Catherine M, Monteiro, Alvaro N, Fenstermacher, David, Lin, Hui-Yi, Permuth, Jennifer B, Sellers, Thomas A, Chen, Y Ann, Tsai, Ya-Yu, Chen, Zhihua, Gentry-Maharaj, Aleksandra, Gayther, Simon A, Ramus, Susan J, Menon, Usha, Wu, Anna H, Pearce, Celeste L, Van Den Berg, David, Pike, Malcolm C, Dansonka-Mieszkowska, Agnieszka, Plisiecka-Halasa, Joanna, Moes-Sosnowska, Joanna, Kupryjanczyk, Jolanta, Pharoah, Paul Dp, Song, Honglin, Winship, Ingrid, Chenevix-Trench, Georgia, Giles, Graham G, Tavtigian, Sean V, Easton, Doug F, Milne, Roger L

Publikováno v: Journal of Medical Genetics, 53(12), 800-811. BMJ Publishing Group
Southey, M C, Goldgar, D E, Winqvist, R, Pylkäs, K, Couch, F, Tischkowitz, M, Foulkes, W D, Dennis, J, Michailidou, K, van Rensburg, E J, Heikkinen, T, Nevanlinna, H, Hopper, J L, Dörk, T, Claes, K B, Reis-Filho, J, Teo, Z L, Radice, P, Catucci, I, Peterlongo, P, Tsimiklis, H, Odefrey, F A, Dowty, J G, Schmidt, M K, Broeks, A, Hogervorst, F B, Verhoef, S, Carpenter, J, Clarke, C, Scott, R J, Fasching, P A, Haeberle, L, Ekici, A B, Beckmann, M W, Peto, J, Dos-Santos-Silva, I, Fletcher, O, Johnson, N, Bolla, M K, Sawyer, E J, Tomlinson, I, Kerin, M J, Miller, N, Marme, F, Bojesen, S, Nordestgaard, B G, Kjaer, S K, Høgdall, E, Høgdall, C K, Engelholm, S A & Australian Ovarian Cancer Study Group 2016, ' PALB2, CHEK2 and ATM rare variants and cancer risk : data from COGS ', Journal of Medical Genetics, vol. 53, no. 12, pp. 800-811 . https://doi.org/10.1136/jmedgenet-2016-103839
Journal of Medical Genetics, 53(12), 800-811
Southey, M C, Goldgar, D E, Winqvist, R, Pylkäs, K, Couch, F, Tischkowitz, M, Foulkes, W D, Dennis, J, Michailidou, K, van Rensburg, E J, Heikkinen, T, Nevanlinna, H, Hopper, J L, Dörk, T, Claes, K B, Reis-Filho, J, Teo, Z L, Radice, P, Catucci, I, Peterlongo, P, Tsimiklis, H, Odefrey, F A, Dowty, J G, Schmidt, M K, Broeks, A, Hogervorst, F B, Verhoef, S, Carpenter, J, Clarke, C, Scott, R J, Fasching, P A, Haeberle, L, Ekici, A B, Beckmann, M W, Peto, J, Dos-Santos-Silva, I, Fletcher, O, Johnson, N, Bolla, M K, Sawyer, E J, Tomlinson, I, Kerin, M J, Miller, N, Marme, F, Burwinkel, B, Yang, R, Guénel, P, Truong, T, Menegaux, F, Muir, K & Australian Ovarian Cancer Study Group 2016, ' PALB2, CHEK2 and ATM rare variants and cancer risk : data from COGS ', Journal of Medical Genetics, vol. 53, no. 12, pp. 800-811 . https://doi.org/10.1136/jmedgenet-2016-103839
Southey, M C, Goldgar, D, Winqvist, R, et al. & Donovan, J 2016, ' PALB2, CHEK2 and ATM rare variants and cancer risk : data from COGS ', Journal of Medical Genetics, vol. 53, no. 12, pp. 800-811 . https://doi.org/10.1136/jmedgenet-2016-103839
Journal of Medical Genetics
JOURNAL OF MEDICAL GENETICS
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Southey, M C, Goldgar, D E, Winqvist, R, Pylkäs, K, Couch, F, Tischkowitz, M, Foulkes, W D, Dennis, J, Michailidou, K, Van Rensburg, E J, Heikkinen, T, Nevanlinna, H, Hopper, J L, Dörk, T, Claes, K B, Reis-filho, J, Teo, Z L, Radice, P, Catucci, I, Peterlongo, P, Tsimiklis, H, Odefrey, F A, Dowty, J G, Schmidt, M K, Broeks, A, Hogervorst, F B, Verhoef, S, Carpenter, J, Clarke, C, Scott, R J, Fasching, P A, Haeberle, L, Ekici, A B, Beckmann, M W, Peto, J, Dos-santos-silva, I, Fletcher, O, Johnson, N, Bolla, M K, Sawyer, E J, Tomlinson, I, Kerin, M J, Miller, N, Marme, F, Burwinkel, B, Yang, R, Guénel, P, Truong, T, Menegaux, F, Sanchez, M, Bojesen, S, Nielsen, S F, Flyger, H, Benitez, J, Zamora, M P, Perez, J I A, Menéndez, P, Anton-culver, H, Neuhausen, S, Ziogas, A, Clarke, C A, Brenner, H, Arndt, V, Stegmaier, C, Brauch, H, Brüning, T, Ko, Y, Muranen, T A, Aittomäki, K, Blomqvist, C, Bogdanova, N V, Antonenkova, N N, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V, Hartikainen, J M, Spurdle, A B, Investigators, K, Wauters, E, Smeets, D, Beuselinck, B, Floris, G, Chang-claude, J, Rudolph, A, Seibold, P, Flesch-janys, D, Olson, J E, Vachon, C, Pankratz, V S, Mclean, C, Haiman, C A, Henderson, B E, Schumacher, F, Le Marchand, L, Kristensen, V, Alnæs, G G, Zheng, W, Hunter, D J, Lindstrom, S, Hankinson, S E, Kraft, P, Andrulis, I, Knight, J A, Glendon, G, Mulligan, A M, Jukkola-vuorinen, A, Grip, M, Kauppila, S, Devilee, P, Tollenaar, R A E M, Seynaeve, C, Hollestelle, A, Garcia-closas, M, Figueroa, J, Chanock, S J, Lissowska, J, Czene, K, Darabi, H, Eriksson, M, Eccles, D M, Rafiq, S, Tapper, W J, Gerty, S M, Hooning, M J, Martens, J W M, Collée, J M, Tilanus-linthorst, M, Hall, P, Li, J, Brand, J S, Humphreys, K, Cox, A, Reed, M W R, Luccarini, C, Baynes, C, Dunning, A M, Hamann, U, Torres, D, Ulmer, H U, Rüdiger, T, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Slager, S, Toland, A E, Ambrosone, C B, Yannoukakos, D, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, González-neira, A, Pita, G, Alonso, M R, Álvarez, N, Herrero, D, Tessier, D C, Vincent, D, Bacot, F, Simard, J, Dumont, M, Soucy, P, Eeles, R, Muir, K, Wiklund, F, Gronberg, H, Schleutker, J, Nordestgaard, B G, Weischer, M, Travis, R C, Neal, D, Donovan, J L, Hamdy, F C, Khaw, K, Stanford, J L, Blot, W J, Thibodeau, S, Schaid, D J, Kelley, J L, Maier, C, Kibel, A S, Cybulski, C, Cannon-albright, L, Butterbach, K, Park, J, Kaneva, R, Batra, J, Teixeira, M R, Kote-jarai, Z, Olama, A A A, Benlloch, S, Renner, S P, Hartmann, A, Hein, A, Ruebner, M, Lambrechts, D, Van Nieuwenhuysen, E, Vergote, I, Lambretchs, S, Doherty, J A, Rossing, M A, Nickels, S, Eilber, U, Wang-gohrke, S, Odunsi, K, Sucheston-campbell, L E, Friel, G, Lurie, G, Killeen, J L, Wilkens, L R, Goodman, M T, Runnebaum, I, Hillemanns, P A, Pelttari, L M, Butzow, R, Modugno, F, Edwards, R P, Ness, R B, Moysich, K B, Du Bois, A, Heitz, F, Harter, P, Kommoss, S, Karlan, B Y, Walsh, C, Lester, J, Jensen, A, Kjaer, S K, Høgdall, E, Peissel, B, Bonanni, B, Bernard, L, Goode, E L, Fridley, B L, Vierkant, R A, Cunningham, J M, Larson, M C, Fogarty, Z C, Kalli, K R, Liang, D, Lu, K H, Hildebrandt, M A T, Wu, X, Levine, D A, Dao, F, Bisogna, M, Berchuck, A, Iversen, E S, Marks, J R, Akushevich, L, Cramer, D W, Schildkraut, J, Terry, K L, Poole, E M, Stampfer, M, Tworoger, S S, Bandera, E V, Orlow, I, Olson, S H, Bjorge, L, Salvesen, H B, Van Altena, A M, Aben, K K H, Kiemeney, L A, Massuger, L F A G, Pejovic, T, Bean, Y, Brooks-wilson, A, Kelemen, L E, Cook, L S, Le, N D, Górski, B, Gronwald, J, Menkiszak, J, Høgdall, C K, Lundvall, L, Nedergaard, L, Engelholm, S A, Dicks, E, Tyrer, J, Campbell, I, Mcneish, I, Paul, J, Siddiqui, N, Glasspool, R, Whittemore, A S, Rothstein, J H, Mcguire, V, Sieh, W, Cai, H, Shu, X, Teten, R T, Sutphen, R, Mclaughlin, J R, Narod, S A, Phelan, C M, Monteiro, A N, Fenstermacher, D, Lin, H, Permuth, J B, Sellers, T A, Chen, Y A, Tsai, Y, Chen, Z, Gentry-maharaj, A, Gayther, S A, Ramus, S J, Menon, U, Wu, A H, Pearce, C L, Van Den Berg, D, Pike, M C, Dansonka-mieszkowska, A, Plisiecka-halasa, J, Moes-sosnowska, J, Kupryjanczyk, J, Pharoah, P D, Song, H, Winship, I, Chenevix-trench, G, Giles, G G, Tavtigian, S V, Easton, D F & Milne, R L 2016, ' PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS ', Journal of Medical Genetics, pp. jmedgenet-2016-103839 . https://doi.org/10.1136/jmedgenet-2016-103839
Southey, M C, Goldgar, D E, Winqvist, R, Pylkäs, K, Couch, F J, Tischkowitz, M, Foulkes, W D, Dennis, J, Michailidou, K & Orr, N 2016, ' PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS ', Journal of Medical Genetics, vol. 53, no. 12, pp. 800-811 . https://doi.org/10.1136/jmedgenet-2016-103839
Journal of Medical Genetics, 53, 800-811
Journal of Medical Genetics, 53, 12, pp. 800-811

Background: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cance

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https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/9798

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