The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
Figlioli, Gisella; Bogliolo, Massimo; Catucci, Irene; Caleca, Laura; Viz Lasheras, Sandra; Pujol, Roser; Kiiski, Johanna I.; Muranen, Taru A.; Barnes, Daniel R.; Dennis, Joe; Michailidou, Kyriaki; Bolla, Manjeet K.; Leslie, Goska; Aalfs, Cora M.; Adank, Muriel A.; Adlard, Julian; Agata, Simona; Cadoo, Karen; Agnarsson, Bjarni A.; Ahearn, Thomas; Aittomaki, Kristiina; Ambrosone, Christine B.; Andrews, Lesley; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J.; Arun, Banu K.; Asseryanis, Ella; Auber, Bernd; Auvinen, Paivi; Azzollini, Jacopo; Balmana, Judith; Barkardottir, Rosa B.; Barrowdale, Daniel; Barwell, Julian; Beane Freeman, Laura E.; Beauparlant, Charles Joly; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Berger, Raanan; Bermisheva, Marina; Blanco, Amie M.; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Anders; Bojesen, Stig E.; Bonanni, Bernardo; Borg, Ake; Brady, Angela F.; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; Buys, Saundra S.; Caldes, Trinidad; Caliebe, Almuth; Caligo, Maria A.; Campa, Daniele; Campbell, Ian G.; Canzian, Federico; Castelao, Jose E.; Chang-Claude, Jenny; Chanock, Stephen J.; Claes, Kathleen B.M.; Clarke, Christine L.; Collavoli, Anita; Conner, Thomas A.; Cox, David G.; Cybulski, Cezary; Czene, Kamila; Daly, Mary B.; De la Hoya, Miguel; Devilee, Peter; Diez, Orland; Ding, Yuan Chun; Dite, Gillian S.; Ditsch, Nina; Domchek, Susan M.; Dorfling, Cecilia Maria; Dos-Santos-Silva, Isabel; Durda, Katarzyna; Dwek, Miriam; Eccles, Diana M.; Ekici, Arif B.; Eliassen, A. Heather; Ellberg, Carolina; Eriksson, Mikael; Evans, D. Gareth; Fasching, Peter A.; Figueroa, Jonine; Flyger, Henrik; Foulkes, William D.; Friebel, Tara M.; Friedman, Eitan; Gabrielson, Marike; Gaddam, Pragna; Gago-Dominguez, Manuela; Gao, Chi; Gapstur, Susan M.; Garber, Judy; García-Closas, Montserrat; Garcia-Saenz, Jose A.; Gaudet, Mia M.; Gayther, Simon A.; Giles, Graham G.; Glendon, Gord; Godwin, Andrew K.; Goldberg, Mark S.; Goldgar, David E.; Guenel, Pascal; Gutierrez-Barrera, Angelica M.; Haeberle, Lothar; Haiman, Christopher A.; Hakansson, Niclas; Hall, Per; Hamann, Ute; Harrington, Patricia A.; Hein, Alexander; Heyworth, Jane; Hillemanns, Peter; Hollestelle, Antoinette; Hopper, John L.; Hosgood III, H. Dean; Howell, Anthony; Hu, Chunling; Hulick, Peter J.; Hunter, David J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Jakimovska, Milena; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Janni, Wolfgang; John, Esther M.; Jones, Michael E.; Jung, Audrey; Kaaks, Rudolf; Karlan, Beth Y.; Khusnutdinova, Elza; Kitahara, Cari M.; Konstantopoulou, Irene; Koutros, Stella; Kraft, Peter; Lambrechts, Diether; Lazaro, Conxi; Le Marchand, Loic; Lester, Jenny; Lesueur, Fabienne; Lilyquist, Jenna; Loud, Jennifer T.; Lu, Karen H.; Luben, Robert N.; Lubinski, Jan; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Martens, John W.M.; Maurer, Tabea; Mavroudis, Dimitrios; Sohn, Christof; Soucy, Penny; Southey, Melissa C.; Spinelli, John J.; Steele, Linda; Stoppa-Lyonnet, Dominique; Tapper, William J.; Teixeira, Manuel R.; Terry, Mary Beth; Thomassen, Mads; Thompson, Jennifer; Thull, Darcy L.; Tischkowitz, Marc; Tollenaar, Rob A.E.M.; Torres, Diana; Troester, Melissa A.; Truong, Therese; Tung, Nadine; Untch, Michael; Vachon, Celine M.; Jansen van Rensburg, Elizabeth; Van Veen, Elke M.; Vega, Ana; Viel, Alessandra; Wappenschmidt, Barbara; Weitzel, Jeffrey N.; Wendt, Camilla; Wieme, Greet; Wolk, Alicja; Yang, Xiaohong R.; Zheng, Wei; Ziogas, Argyrios; Zorn, Kristin K.; Dunning, Alison M.; Lush, Michael; Wang, Qin; McGuffog, Lesley; Parsons, Michael T.; Pharoah, Paul D.P.; Fostira, Florentia; Toland, Amanda Ewart; Andrulis, Irene L.; Ramus, Susan J.; Swerdlow, Anthony J.; Greene, Mark H.; Chung, Wendy K.; Milne, Roger L.; Chenevix-Trench, Georgia; Dork, Thilo; Schmidt, Marjanka K.; Easton, Douglas F.; Radice, Paolo; Hahnen, Eric; Antoniou, Antonis C.; Couch, Fergus J.; Nevanlinna, Heli; Surralles, Jordi; Peterlongo, Paolo (Nature Research, 2019-12)
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genesBRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes ...
Roadmap for naming uncultivated Archaea and Bacteria
Murray, Alison E.; Freudenstein, John; Gribaldo, Simonetta; Hatzenpichler, Roland; Hugenholtz, Philip; Kampfer, Peter; Konstantinidis, Konstantinos T.; Lane, Christopher E.; Papke, R. Thane; Parks, Donovan H.; Rossello-Mora, Ramon; Stott, Matthew B.; Sutcliffe, Iain C.; Thrash, J. Cameron; Venter, S.N. (Stephanus Nicolaas); Whitman, William B.; Acinas, Silvia G.; Amann, Rudolf I.; Anantharaman, Karthik; Armengaud, Jean; Baker, Brett J.; Barco, Roman A.; Bode, Helge B.; Boyd, Eric S.; Brady, Carrie Louise; Carini, Paul; Chain, Patrick S.G.; Colman, Daniel R.; DeAngelis, Kristen M.; De los Rios, Maria Asuncion; Estrada-de los Santos, Paulina; Dunlap, Christopher A.; Eisen, Jonathan A.; Emerson, David; Ettema, Thijs J.G.; Eveillard, Damien; Girguis, Peter R.; Hentschel, Ute; Hollibaugh, James T.; Hug, Laura A.; Inskeep, William P.; Ivanova, Elena P.; Klenk, Hans-Peter; Li, Wen-Jun; Lloyd, Karen G.; Loffler, Frank E.; Makhalanyane, Thulani Peter; Moser, Duane P.; Nunoura, Takuro; Palmer, Marike; Parro, Victor; Pedrós-Alio, Carlos; Probst, Alexander J.; Smits, Theo H.M.; Steen, Andrew D.; Steenkamp, Emma Theodora; Spang, Anja; Stewart, Frank J.; Tiedje, James M.; Vandamme, Peter; Wagner, Michael; Wang, Feng-Ping; Yarza, Pablo; Hedlund, Brian P.; Reysenbach, Anna-Louise (Nature Research, 2020-06-08)
The assembly of single-amplified genomes (SAGs) and metagenome-assembled genomes (MAGs) has led to a surge ingenome-based discoveries of members affiliated with Archaea and Bacteria, bringing with it a need to develop ...
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Southey, Melissa C.; Goldgar, David E.; Winqvist, Robert; Pylkas, Katri; Couch, Fergus; Tischkowitz, Marc; Foulkes, William D.; Dennis, Joe; Michailidou, Kyriaki; Jansen van Rensburg, Elizabeth; Heikkinen, Tuomas; Nevanlinna, Heli; Hopper, John L.; Dork, Thilo; Claes, Kathleen B.M.; 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; Guenel, Pascal; Truong, Therese; Menegaux, Florence; Sanchez, Marie; Bojesen, Stig E.; Nielsen, Sune F.; Flyger, Henrik; Benitez, Javier; Zamora, M. Pilar; Perez, Jose Ignacio Arias; Menendez, Primitiva; Anton-Culver, Hoda; Neuhausen, Susan; Ziogas, Argyrios; Clarke, Christina A.; Brenner, Hermann; Arndt, Volker; Stegmaier, Christa; Brauch, Hiltrud; Bruning, Thomas; Ko, Yon-Dschun; Muranen, Taru A.; Aittomaki, 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.; kConFab Investigators; 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; Marchand, Loic Le; 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.; Martens, John W.M.; Collee, 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; Rudiger, Thomas; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Slager, Susan; Toland, Amanda E.; Ambrosone, Christine B.; Yannoukakos, Drakoulis; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; Gonzalez-Neira, Anna; Pita, Guillermo; Alonso, M. Rosario; Alvarez, 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; Al Olama, Ali Amin; 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; Kruger Kjaer, Susanne; Hogdall, 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.; Gorski, Bohdan; Gronwald, Jacek; Menkiszak, Janusz; Hogdall, 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 D.P.; Song, Honglin; Winship, Ingrid; Chenevix-Trench, Georgia; Giles, Graham G.; Tavtigian, Sean V.; Easton, Doug F.; Milne, Roger L. (Elsevier, 2016-09-05)
BACKGROUND The rarity of mutations in PALB2, CHEK2 and ATMmake it difficult to estimate precisely associated cancer risks.Population-based family studies have provided evidence that at leastsome of these mutations ...
