Journal of Medical Genetics
Publication date:
2016-12-01
Volume:
53
Pages:
800 -
811
Publisher:
BMJ Publishing Group
Author:
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, Beppe ; 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 ; 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
Keywords:
Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, BRCA2-INTERACTING PROTEIN, SUSCEPTIBILITY LOCI, BREAST, MUTATIONS, GENE, BRCA1, Cancer: breast, Cancer: ovary, Cancer: prostate, Genetics, cancer predisposition, Ataxia Telangiectasia Mutated Proteins, Breast Neoplasms, Case-Control Studies, Checkpoint Kinase 2, Fanconi Anemia Complementation Group N Protein, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Mutation, Nuclear Proteins, Ovarian Neoplasms, Prostatic Neoplasms, Risk, Tumor Suppressor Proteins, Australian Ovarian Cancer Study Group, 06 Biological Sciences, 11 Medical and Health Sciences, 3105 Genetics, 3202 Clinical sciences
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.