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

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; 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 A E M; 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 W M; Collée, J Margriet; Tilanus-Linthorst, Madeleine; Hall, Per; Li, Jingmei; Brand, Judith S; Humphreys, Keith; Cox, Angela; Reed, Malcolm W R; 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 A T; 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 K H; Kiemeney, Lambertus A; Massuger, Leon F A G; 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

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Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/25341

Title:	PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Authors:	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 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 A E M 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 W M Collée, J Margriet Tilanus-Linthorst, Madeleine Hall, Per Li, Jingmei Brand, Judith S Humphreys, Keith Cox, Angela Reed, Malcolm W R 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 A T 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 K H Kiemeney, Lambertus A Massuger, Leon F A G 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 View more
Keywords:	Cancer: breast Cancer: ovary Cancer: prostate Genetics cancer predisposition View more
Mesh:	Ataxia Telangiectasia Mutated Proteins Breast Neoplasms Case-Control Studies Checkpoint Kinase 2 Fanconi Anemia Complementation Group N Protein Female Genetic Association Studies Humans Male Nuclear Proteins Ovarian Neoplasms Prostatic Neoplasms Risk Tumor Suppressor Proteins Genetic Predisposition to Disease Mutation View more
Issue Date:	2016
Citation:	J. Med. Genet..2016 12;(53)12:800-811
Abstract:	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 cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study.
PMID:	27595995
URI:	https://hdl.handle.net/20.500.12530/25341
Rights:	openAccess
Appears in Collections:	Fundaciones e Institutos de Investigación > IIS H. U. La Paz > Artículos Hospitales > H. U. La Paz > Artículos

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