Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus (2024)

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 ...

Archaeological assessment reveals Earth’s early transformation through land use 

Stephens, Lucas; Fuller, Dorian; Boivin, Nicole; Rick, Torben; Gauthier, Nicolas; Kay, Andrea; Marwick, Ben; Armstrong, Chelsey Geralda; Barton, C. Michael; Denham, Tim; Douglass, Kristina; Driver, Jonathan; Janz, Lisa; Roberts, Patrick; Rogers, J. Daniel; Thakar, Heather; Altaweel, Mark; Johnson, Amber L.; Vattuone, Maria Marta Sampietro; Aldenderfer, Mark; Archila, Sonia; Artioli, Gilberto; Bale, Martin T.; Beach, Timothy; Borrell, Ferran; Braje, Todd; Buckland, Philip I.; Cano, Nayeli Guadalupe Jiménez; Capriles, Jose M.; Castillo, Agustin Diez; Cilingiroglu, Ciler; Cleary, Michelle Negus; Conolly, James; Coutros, Peter R.; Covey, R. Alan; Cremaschi, Mauro; Crowther, Alison; Der, Lindsay; Di Lernia, Savino; Doershuk, John F.; Doolittle, William E.; Edwards, Kevin J.; Erlandson, Jon M.; Evans, Damian; Fairbairn, Andrew; Faulkner, Patrick; Feinman, Gary; Fernandes, Ricardo; Fitzpatrick, Scott M.; Fyfe, Ralph; Garcea, Elena; Goldstein, Steve; Goodman, Reed Charles; Guedes, Jade Dalpoim; Herrmann, Jason; Hisco*ck, Peter; Hommel, Peter; Horsburgh, K. Ann; Hritz, Carrie; Ives, John W.; Junno, Aripekka; Kahn, Jennifer G.; Kaufman, Brett; Kearns, Catherine; Kidder, Tristram R.; Lanoe, Francois; Lawrence, Dan; Lee, Gyoung-Ah; Levin, Maureece J.; Lindskoug, Henrik B.; Lopez-Saez, Jose Antonio; Macrae, Scott; Marchant, Rob; Marston, John M.; McClure, Sarah; McCoy, Mark D.; Miller, Alicia Ventresca; Morrison, Michael; Matuzeviciute, Giedre Motuzaite; Muller, Johannes; Nayak, Ayushi; Noerwidi, Sofwan; Peres, Tanya M.; Peterson, Christian E.; Proctor, Lucas; Randall, Asa R.; Renette, Steve; Schug, Gwen Robbins; Ryzewski, Krysta; Saini, Rakesh; Scheinsohn, Vivian; Schmidt, Peter R.; Sebillaud, Pauline; Seitsonen, Oula; Simpson, Ian A.; Soltysiak, Arkadiusz; Speakman, Robert J.; Spengler, Robert N.; Steffen, Martina L.; Storozum, Michael J.; Strickland, Keir M.; Thompson, Jessica; Thurston, T.L.; Ulm, Sean; Ustunkaya, M. Cemre; Welker, Martin H.; West, Catherine; Williams, Patrick Ryan; Wright, David K.; Wright, Nathan; Zahir, Muhammad; Zerboni, Andrea; Beaudoin, Ella; Garcia, Santiago Munevar; Powell, Jeremy; Thornton, Alexa; Kaplan, Jed O.; Gaillard, Marie-Jose; Goldewijk, Kees Klein; Ellis, Erle (American Association for the Advancement of Science, 2019-08)

Environmentally transformative human use of land accelerated with the emergence of agriculture, but the extent, trajectory, and implications of these early changes are not well understood. An empirical global assessment ...

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus (2024)

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