Whole Exome Sequencing reveals NOTCH1 mutations in anaplastic large cell lymphoma and points to Notch both as a key pathway and a potential therapeutic target.
Haematologica
Larose, Hugo H; Prokoph, Nina N; Matthews, Jamie D JD; Schlederer, Michaela M; Högler, Sandra S; Alsulami, Ali F AF; Ducray, Stephen P SP; Nuglozeh, Edem E; Fazaludeen, Feroze M S FMS; Elmouna, Ahmed A; Ceccon, Monica M; Mologni, Luca L; Gambacorti-Passerini, Carlo C; Hoefler, Gerald G; Lobello, Cosimo C; Pospisilova, Sarka S; Janikova, Andrea A; Woessmann, Wilhelm W; Damm-Welk, Christine C; Zimmermann, Martin M; Federova, Alina A; Malone, Andrea A; Smith, Owen O; Wasik, Mariusz M; Inghirami, Giorgio G; Lamant, Laurence L; Blundell, Tom L TL; Klapper, Wolfram W; Merkel, Olaf O; Burke, Amos G A AGA; Mian, Shahid S; Ashankyty, Ibraheem I; Kenner, Lukas L; Turner, Suzanne D SD
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
Npj Breast Cancer
Figlioli, Gisella G; Bogliolo, Massimo M; Catucci, Irene I; Caleca, Laura L; Lasheras, Sandra Viz SV; Pujol, Roser R; Kiiski, Johanna I JI; Muranen, Taru A TA; Barnes, Daniel R DR; Dennis, Joe J; Michailidou, Kyriaki K; Bolla, Manjeet K MK; Leslie, Goska G; Aalfs, Cora M CM; , ; Adank, Muriel A MA; Adlard, Julian J; Agata, Simona S; Cadoo, Karen K; Agnarsson, Bjarni A BA; Ahearn, Thomas T; Aittomäki, Kristiina K; Ambrosone, Christine B CB; Andrews, Lesley L; Anton-Culver, Hoda H; Antonenkova, Natalia N NN; Arndt, Volker V; Arnold, Norbert N; Aronson, Kristan J KJ; Arun, Banu K BK; Asseryanis, Ella E; Auber, Bernd B; Auvinen, Päivi P; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Barrowdale, Daniel D; Barwell, Julian J; Beane Freeman, Laura E LE; Beauparlant, Charles Joly CJ; Beckmann, Matthias W MW; Behrens, Sabine S; Benitez, Javier J; Berger, Raanan R; Bermisheva, Marina M; Blanco, Amie M AM; Blomqvist, Carl C; Bogdanova, Natalia V NV; Bojesen, Anders A; Bojesen, Stig E SE; Bonanni, Bernardo B; Borg, Ake A; Brady, Angela F AF; Brauch, Hiltrud H; Brenner, Hermann H; Brüning, Thomas T; Burwinkel, Barbara B; Buys, Saundra S SS; Caldés, Trinidad T; Caliebe, Almuth A; Caligo, Maria A MA; Campa, Daniele D; Campbell, Ian G IG; Canzian, Federico F; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Claes, Kathleen B M KBM; Clarke, Christine L CL; Collavoli, Anita A; Conner, Thomas A TA; Cox, David G DG; Cybulski, Cezary C; Czene, Kamila K; Daly, Mary B MB; de la Hoya, Miguel M; Devilee, Peter P; Diez, Orland O; Ding, Yuan Chun YC; Dite, Gillian S GS; Ditsch, Nina N; Domchek, Susan M SM; Dorfling, Cecilia M CM; Dos-Santos-Silva, Isabel I; Durda, Katarzyna K; Dwek, Miriam M; Eccles, Diana M DM; Ekici, Arif B AB; Eliassen, A Heather AH; Ellberg, Carolina C; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Foulkes, William D WD; Friebel, Tara M TM; Friedman, Eitan E; Gabrielson, Marike M; Gaddam, Pragna P; Gago-Dominguez, Manuela M; Gao, Chi C; Gapstur, Susan M SM; Garber, Judy J; García-Closas, Montserrat M; García-Sáenz, José A JA; Gaudet, Mia M MM; Gayther, Simon A SA; , ; Giles, Graham G GG; Glendon, Gord G; Godwin, Andrew K AK; Goldberg, Mark S MS; Goldgar, David E DE; Guénel, Pascal P; Gutierrez-Barrera, Angelica M AM; Haeberle, Lothar L; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Hamann, Ute U; Harrington, Patricia A PA; Hein, Alexander A; Heyworth, Jane J; Hillemanns, Peter P; Hollestelle, Antoinette A; Hopper, John L JL; Hosgood, H Dean HD; Howell, Anthony A; Hu, Chunling C; Hulick, Peter J PJ; Hunter, David J DJ; Imyanitov, Evgeny N EN; , ; Isaacs, Claudine C; Jakimovska, Milena M; Jakubowska, Anna A; James, Paul P; Janavicius, Ramunas R; Janni, Wolfgang W; John, Esther M EM; Jones, Michael E ME; Jung, Audrey A; Kaaks, Rudolf R; Karlan, Beth Y BY; Khusnutdinova, Elza E; Kitahara, Cari M CM; Konstantopoulou, Irene I; Koutros, Stella S; Kraft, Peter P; Lambrechts, Diether D; Lazaro, Conxi C; Le Marchand, Loic L; Lester, Jenny J; Lesueur, Fabienne F; Lilyquist, Jenna J; Loud, Jennifer T JT; Lu, Karen H KH; Luben, Robert N RN; Lubinski, Jan J; Mannermaa, Arto A; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martens, John W M JWM; Maurer, Tabea T; Mavroudis, Dimitrios D; Mebirouk, Noura N; Meindl, Alfons A; Menon, Usha U; Miller, Austin A; Montagna, Marco M; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Newman, William G WG; Nguyen-Dumont, Tu T; Nielsen, Finn Cilius FC; Nielsen, Sarah S; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Olshan, Andrew F AF; Olson, Janet E JE; Olsson, Håkan H; Osorio, Ana A; Ottini, Laura L; Peissel, Bernard B; Peixoto, Ana A; Peto, Julian J; Plaseska-Karanfilska, Dijana D; Pocza, Timea T; Presneau, Nadege N; Pujana, Miquel Angel MA; Punie, Kevin K; Rack, Brigitte B; Rantala, Johanna J; Rashid, Muhammad U MU; Rau-Murthy, Rohini R; Rennert, Gad G; Lejbkowicz, Flavio F; Rhenius, Valerie V; Romero, Atocha A; Rookus, Matti A MA; Ross, Eric A EA; Rossing, Maria M; Rudaitis, Vilius V; Ruebner, Matthias M; Saloustros, Emmanouil E; Sanden, Kristin K; Santamariña, Marta M; Scheuner, Maren T MT; Schmutzler, Rita K RK; Schneider, Michael M; Scott, Christopher C; Senter, Leigha L; Shah, Mitul M; Sharma, Priyanka P; Shu, Xiao-Ou XO; Simard, Jacques J; Singer, Christian F CF; Sohn, Christof C; Soucy, Penny P; Southey, Melissa C MC; Spinelli, John J JJ; Steele, Linda L; Stoppa-Lyonnet, Dominique D; Tapper, William J WJ; Teixeira, Manuel R MR; Terry, Mary Beth MB; Thomassen, Mads M; Thompson, Jennifer J; Thull, Darcy L DL; Tischkowitz, Marc M; Tollenaar, Rob A E M RAEM; Torres, Diana D; Troester, Melissa A MA; Truong, Thérèse T; Tung, Nadine N; Untch, Michael M; Vachon, Celine M CM; van Rensburg, Elizabeth J EJ; van Veen, Elke M EM; Vega, Ana A; Viel, Alessandra A; Wappenschmidt, Barbara B; Weitzel, Jeffrey N JN; Wendt, Camilla C; Wieme, Greet G; Wolk, Alicja A; Yang, Xiaohong R XR; Zheng, Wei W; Ziogas, Argyrios A; Zorn, Kristin K KK; Dunning, Alison M AM; Lush, Michael M; Wang, Qin Q; McGuffog, Lesley L; Parsons, Michael T MT; Pharoah, Paul D P PDP; Fostira, Florentia F; Toland, Amanda E AE; Andrulis, Irene L IL; Ramus, Susan J SJ; Swerdlow, Anthony J AJ; Greene, Mark H MH; Chung, Wendy K WK; Milne, Roger L RL; Chenevix-Trench, Georgia G; Dörk, Thilo T; Schmidt, Marjanka K MK; Easton, Douglas F DF; Radice, Paolo P; Hahnen, Eric E; Antoniou, Antonis C AC; Couch, Fergus J FJ; Nevanlinna, Heli H; Surrallés, Jordi J; Peterlongo, Paolo P
Association between single nucleotide polymorphisms within genes encoding sirtuin families and diabetic nephropathy in Japanese subjects with type 2 diabetes.