Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.
Frontiers In Immunology
Miano, Maurizio M; Guardo, Daniela D; Grossi, Alice A; Palmisani, Elena E; Fioredda, Francesca F; Terranova, Paola P; Cappelli, Enrico E; Lupia, Michela M; Traverso, Monica M; Dell'Orso, Gianluca G; Corsolini, Fabio F; Beccaria, Andrea A; Lanciotti, Marina M; Ceccherini, Isabella I; Dufour, Carlo C
Publication Date: 2022
Variant appearance in text: CASP10: 1228G>A; Val410Ile
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Nature Genetics
Fachal, Laura L; Aschard, Hugues H; Beesley, Jonathan J; Barnes, Daniel R DR; Allen, Jamie J; Kar, Siddhartha S; Pooley, Karen A KA; Dennis, Joe J; Michailidou, Kyriaki K; Turman, Constance C; Soucy, Penny P; Lemaçon, Audrey A; Lush, Michael M; Tyrer, Jonathan P JP; Ghoussaini, Maya M; Moradi Marjaneh, Mahdi M; Jiang, Xia X; Agata, Simona S; Aittomäki, Kristiina K; Alonso, M Rosario MR; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antonenkova, Natalia N NN; Arason, Adalgeir A; Arndt, Volker V; Aronson, Kristan J KJ; Arun, Banu K BK; Auber, Bernd B; Auer, Paul L PL; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Barrowdale, Daniel D; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bermisheva, Marina M; Białkowska, Katarzyna K; Blanco, Amie M AM; Blomqvist, Carl C; Blot, William W; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bonanni, Bernardo B; Borg, Ake A; Bosse, Kristin K; Brauch, Hiltrud H; Brenner, Hermann H; Briceno, Ignacio I; Brock, Ian W IW; Brooks-Wilson, Angela A; Brüning, Thomas T; Burwinkel, Barbara B; Buys, Saundra S SS; Cai, Qiuyin Q; Caldés, Trinidad T; Caligo, Maria A MA; Camp, Nicola J NJ; Campbell, Ian I; Canzian, Federico F; Carroll, Jason S JS; Carter, Brian D BD; Castelao, Jose E JE; Chiquette, Jocelyne J; Christiansen, Hans H; Chung, Wendy K WK; Claes, Kathleen B M KBM; Clarke, Christine L CL; , ; , ; Collée, J Margriet JM; Cornelissen, Sten S; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; 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; Domchek, Susan M SM; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Droit, Arnaud A; Dubois, Stéphane S; Dumont, Martine M; Duran, Mercedes M; Durcan, Lorraine L; Dwek, Miriam M; Eccles, Diana M DM; Engel, Christoph C; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Fletcher, Olivia O; Floris, Giuseppe G; Flyger, Henrik H; Foretova, Lenka L; Foulkes, William D WD; Friedman, Eitan E; Fritschi, Lin L; Frost, Debra D; Gabrielson, Marike M; Gago-Dominguez, Manuela M; Gambino, Gaetana G; Ganz, Patricia A PA; Gapstur, Susan M SM; Garber, Judy J; García-Sáenz, José A JA; Gaudet, Mia M MM; Georgoulias, Vassilios V; Giles, Graham G GG; Glendon, Gord G; Godwin, Andrew K AK; Goldberg, Mark S MS; Goldgar, David E DE; González-Neira, Anna A; Tibiletti, Maria Grazia MG; Greene, Mark H MH; Grip, Mervi M; Gronwald, Jacek J; Grundy, Anne A; Guénel, Pascal P; Hahnen, Eric E; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Hamann, Ute U; Harrington, Patricia A PA; Hartikainen, Jaana M JM; Hartman, Mikael M; He, Wei W; Healey, Catherine S CS; Heemskerk-Gerritsen, Bernadette A M BAM; Heyworth, Jane J; Hillemanns, Peter P; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Hopper, John L JL; Howell, Anthony A; Huang, Guanmengqian G; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Iwasaki, Motoki M; Jager, Agnes A; Jakimovska, Milena M; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; Jankowitz, Rachel C RC; John, Esther M EM; Johnson, Nichola N; Jones, Michael E ME; Jukkola-Vuorinen, Arja A; Jung, Audrey A; Kaaks, Rudolf R; Kang, Daehee D; Kapoor, Pooja Middha PM; Karlan, Beth Y BY; Keeman, Renske R; Kerin, Michael J MJ; Khusnutdinova, Elza E; Kiiski, Johanna I JI; Kirk, Judy J; Kitahara, Cari M CM; Ko, Yon-Dschun YD; Konstantopoulou, Irene I; Kosma, Veli-Matti VM; Koutros, Stella S; Kubelka-Sabit, Katerina K; Kwong, Ava A; Kyriacou, Kyriacos K; Laitman, Yael Y; Lambrechts, Diether D; Lee, Eunjung E; Leslie, Goska G; Lester, Jenny J; Lesueur, Fabienne F; Lindblom, Annika A; Lo, Wing-Yee WY; Long, Jirong J; Lophatananon, Artitaya A; Loud, Jennifer T JT; Lubiński, Jan J; MacInnis, Robert J RJ; Maishman, Tom T; Makalic, Enes E; Mannermaa, Arto A; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martinez, Maria Elena ME; Matsuo, Keitaro K; Maurer, Tabea T; Mavroudis, Dimitrios D; Mayes, Rebecca R; McGuffog, Lesley L; McLean, Catriona C; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Miller, Nicola N; Montagna, Marco M; Moreno, Fernando F; Muir, Kenneth K; Mulligan, Anna Marie AM; Muñoz-Garzon, Victor M VM; Muranen, Taru A TA; Narod, Steven A SA; Nassir, Rami R; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Neven, Patrick P; Nielsen, Finn C FC; Nikitina-Zake, Liene L; Norman, Aaron A; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Olsson, Håkan H; Orr, Nick N; Osorio, Ana A; Pankratz, V Shane VS; Papp, Janos J; Park, Sue K SK; Park-Simon, Tjoung-Won TW; Parsons, Michael T MT; Paul, James J; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Peshkin, Beth B; Peterlongo, Paolo P; Peto, Julian J; Plaseska-Karanfilska, Dijana D; Prajzendanc, Karolina K; Prentice, Ross R; Presneau, Nadege N; Prokofyeva, Darya D; Pujana, Miquel Angel MA; Pylkäs, Katri K; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Rau-Murthy, Rohini R; Rennert, Gad G; Risch, Harvey A HA; Robson, Mark M; Romero, Atocha A; Rossing, Maria M; Saloustros, Emmanouil E; Sánchez-Herrero, Estela E; Sandler, Dale P DP; Santamariña, Marta M; Saunders, Christobel C; Sawyer, Elinor J EJ; Scheuner, Maren T MT; Schmidt, Daniel F DF; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Schoemaker, Minouk J MJ; Schöttker, Ben B; Schürmann, Peter P; Scott, Christopher C; Scott, Rodney J RJ; Senter, Leigha L; Seynaeve, Caroline M CM; Shah, Mitul M; Sharma, Priyanka P; Shen, Chen-Yang CY; Shu, Xiao-Ou XO; Singer, Christian F CF; Slavin, Thomas P TP; Smichkoska, Snezhana S; Southey, Melissa C MC; Spinelli, John J JJ; Spurdle, Amanda B AB; Stone, Jennifer J; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Tan, Yen Yen YY; Tapper, William J WJ; Taylor, Jack A JA; Teixeira, Manuel R MR; Tengström, Maria M; Teo, Soo Hwang SH; Terry, Mary Beth MB; Teulé, Alex A; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Tollenaar, Rob A E M RAEM; Tomlinson, Ian I; Torres, Diana D; Torres-Mejía, Gabriela G; Troester, Melissa A MA; Truong, Thérèse T; Tung, Nadine N; Tzardi, Maria M; Ulmer, Hans-Ulrich HU; Vachon, Celine M CM; van Asperen, Christi J CJ; van der Kolk, Lizet E LE; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Vijai, Joseph J; Vogel, Maartje J MJ; Wang, Qin Q; Wappenschmidt, Barbara B; Weinberg, Clarice R CR; Weitzel, Jeffrey N JN; Wendt, Camilla C; Wildiers, Hans H; Winqvist, Robert R; Wolk, Alicja A; Wu, Anna H AH; Yannoukakos, Drakoulis D; Zhang, Yan Y; Zheng, Wei W; Hunter, David D; Pharoah, Paul D P PDP; Chang-Claude, Jenny J; García-Closas, Montserrat M; Schmidt, Marjanka K MK; Milne, Roger L RL; Kristensen, Vessela N VN; French, Juliet D JD; Edwards, Stacey L SL; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Simard, Jacques J; Easton, Douglas F DF; Kraft, Peter P; Dunning, Alison M AM
Publication Date: 2020-01
Variant appearance in text: CASP10: V410I; rs13010627
Suzuki, Hiromichi H; Kumar, Sachin A SA; Shuai, Shimin S; Diaz-Navarro, Ander A; Gutierrez-Fernandez, Ana A; De Antonellis, Pasqualino P; Cavalli, Florence M G FMG; Juraschka, Kyle K; Farooq, Hamza H; Shibahara, Ichiyo I; Vladoiu, Maria C MC; Zhang, Jiao J; Abeysundara, Namal N; Przelicki, David D; Skowron, Patryk P; Gauer, Nicole N; Luu, Betty B; Daniels, Craig C; Wu, Xiaochong X; Forget, Antoine A; Momin, Ali A; Wang, Jun J; Dong, Weifan W; Kim, Seung-Ki SK; Grajkowska, Wieslawa A WA; Jouvet, Anne A; Fèvre-Montange, Michelle M; Garrè, Maria Luisa ML; Nageswara Rao, Amulya A AA; Giannini, Caterina C; Kros, Johan M JM; French, Pim J PJ; Jabado, Nada N; Ng, Ho-Keung HK; Poon, Wai Sang WS; Eberhart, Charles G CG; Pollack, Ian F IF; Olson, James M JM; Weiss, William A WA; Kumabe, Toshihiro T; López-Aguilar, Enrique E; Lach, Boleslaw B; Massimino, Maura M; Van Meir, Erwin G EG; Rubin, Joshua B JB; Vibhakar, Rajeev R; Chambless, Lola B LB; Kijima, Noriyuki N; Klekner, Almos A; Bognár, László L; Chan, Jennifer A JA; Faria, Claudia C CC; Ragoussis, Jiannis J; Pfister, Stefan M SM; Goldenberg, Anna A; Wechsler-Reya, Robert J RJ; Bailey, Swneke D SD; Garzia, Livia L; Morrissy, A Sorana AS; Marra, Marco A MA; Huang, Xi X; Malkin, David D; Ayrault, Olivier O; Ramaswamy, Vijay V; Puente, Xose S XS; Calarco, John A JA; Stein, Lincoln L; Taylor, Michael D MD
Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry.
Ebiomedicine
Yang, Yaohua Y; Shu, Xiang X; Shu, Xiao-Ou XO; Bolla, Manjeet K MK; Kweon, Sun-Seog SS; Cai, Qiuyin Q; Michailidou, Kyriaki K; Wang, Qin Q; Dennis, Joe J; Park, Boyoung B; Matsuo, Keitaro K; Kwong, Ava A; Park, Sue Kyung SK; Wu, Anna H AH; Teo, Soo Hwang SH; Iwasaki, Motoki M; Choi, Ji-Yeob JY; Li, Jingmei J; Hartman, Mikael M; Shen, Chen-Yang CY; Muir, Kenneth K; Lophatananon, Artitaya A; Li, Bingshan B; Wen, Wanqing W; Gao, Yu-Tang YT; Xiang, Yong-Bing YB; Aronson, Kristan J KJ; Spinell, John J JJ; Gago-Dominguez, Manuela M; John, Esther M EM; Kurian, Allison W AW; Chang-Claude, Jenny J; Chen, Shou-Tung ST; Dörk, Thilo T; Evans, D Gareth R DGR; Schmidt, Marjanka K MK; Shin, Min-Ho MH; Giles, Graham G GG; Milne, Roger L RL; Simard, Jacques J; Kubo, Michiaki M; Kraft, Peter P; Kang, Daehee D; Easton, Douglas F DF; Zheng, Wei W; Long, Jirong J
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: CASP10: V410I; rs13010627
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Genetic variants in genes related to inflammation, apoptosis and autophagy in breast cancer risk.
Plos One
Schuetz, Johanna M JM; Grundy, Anne A; Lee, Derrick G DG; Lai, Agnes S AS; Kobayashi, Lindsay C LC; Richardson, Harriet H; Long, Jirong J; Zheng, Wei W; Aronson, Kristan J KJ; Spinelli, John J JJ; Brooks-Wilson, Angela R AR
Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Muranen, Taru A TA; Greco, Dario D; Blomqvist, Carl C; Aittomäki, Kristiina K; Khan, Sofia S; Hogervorst, Frans F; Verhoef, Senno S; Pharoah, Paul D P PDP; Dunning, Alison M AM; Shah, Mitul M; Luben, Robert R; Bojesen, Stig E SE; Nordestgaard, Børge G BG; Schoemaker, Minouk M; Swerdlow, Anthony A; García-Closas, Montserrat M; Figueroa, Jonine J; Dörk, Thilo T; Bogdanova, Natalia V NV; Hall, Per P; Li, Jingmei J; Khusnutdinova, Elza E; Bermisheva, Marina M; Kristensen, Vessela V; Borresen-Dale, Anne-Lise AL; , ; Peto, Julian J; Dos Santos Silva, Isabel I; Couch, Fergus J FJ; Olson, Janet E JE; Hillemans, Peter P; Park-Simon, Tjoung-Won TW; Brauch, Hiltrud H; Hamann, Ute U; Burwinkel, Barbara B; Marme, Frederik F; Meindl, Alfons A; Schmutzler, Rita K RK; Cox, Angela A; Cross, Simon S SS; Sawyer, Elinor J EJ; Tomlinson, Ian I; Lambrechts, Diether D; Moisse, Matthieu M; Lindblom, Annika A; Margolin, Sara S; Hollestelle, Antoinette A; Martens, John W M JWM; Fasching, Peter A PA; Beckmann, Matthias W MW; Andrulis, Irene L IL; Knight, Julia A JA; , ; Anton-Culver, Hoda H; Ziogas, Argyrios A; Giles, Graham G GG; Milne, Roger L RL; Brenner, Hermann H; Arndt, Volker V; Mannermaa, Arto A; Kosma, Veli-Matti VM; Chang-Claude, Jenny J; Rudolph, Anja A; Devilee, Peter P; Seynaeve, Caroline C; Hopper, John L JL; Southey, Melissa C MC; John, Esther M EM; Whittemore, Alice S AS; Bolla, Manjeet K MK; Wang, Qin Q; Michailidou, Kyriaki K; Dennis, Joe J; Easton, Douglas F DF; Schmidt, Marjanka K MK; Nevanlinna, Heli H
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11
Variant appearance in text: CASP10: V410I; rs13010627
Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.
Clinical Immunology (Orlando, Fla.)
Kienzler, Anne-Kathrin AK; van Schouwenburg, Pauline A PA; Taylor, John J; Marwah, Ishita I; Sharma, Richa U RU; Noakes, Charlotte C; Thomson, Kate K; Sadler, Ross R; Segal, Shelley S; Ferry, Berne B; Taylor, Jenny C JC; Blair, Edward E; Chapel, Helen H; Patel, Smita Y SY
Publication Date: 2016-02
Variant appearance in text: CASP10: 1228G>A; Val410Ile; rs13010627
MicroRNA related polymorphisms and breast cancer risk.
Plos One
Khan, Sofia S; Greco, Dario D; Michailidou, Kyriaki K; Milne, Roger L RL; Muranen, Taru A TA; Heikkinen, Tuomas T; Aaltonen, Kirsimari K; Dennis, Joe J; Bolla, Manjeet K MK; Liu, Jianjun J; Hall, Per P; Irwanto, Astrid A; Humphreys, Keith K; Li, Jingmei J; Czene, Kamila K; Chang-Claude, Jenny J; Hein, Rebecca R; Rudolph, Anja A; Seibold, Petra P; Flesch-Janys, Dieter D; Fletcher, Olivia O; Peto, Julian J; dos Santos Silva, Isabel I; Johnson, Nichola N; Gibson, Lorna L; Aitken, Zoe Z; Hopper, John L JL; Tsimiklis, Helen H; Bui, Minh M; Makalic, Enes E; Schmidt, Daniel F DF; Southey, Melissa C MC; Apicella, Carmel C; Stone, Jennifer J; Waisfisz, Quinten Q; Meijers-Heijboer, Hanne H; Adank, Muriel A MA; van der Luijt, Rob B RB; Meindl, Alfons A; Schmutzler, Rita K RK; Müller-Myhsok, Bertram B; Lichtner, Peter P; Turnbull, Clare C; Rahman, Nazneen N; Chanock, Stephen J SJ; Hunter, David J DJ; Cox, Angela A; Cross, Simon S SS; Reed, Malcolm W R MW; Schmidt, Marjanka K MK; Broeks, Annegien A; Van't Veer, Laura J LJ; Hogervorst, Frans B FB; Fasching, Peter A PA; Schrauder, Michael G MG; Ekici, Arif B AB; Beckmann, Matthias W MW; Bojesen, Stig E SE; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Flyger, Henrik H; Benitez, Javier J; Zamora, Pilar M PM; Perez, Jose I A JI; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Fredrick F; Le Marchand, Loic L; Pharoah, Paul D P PD; Dunning, Alison M AM; Shah, Mitul M; Luben, Robert R; Brown, Judith J; Couch, Fergus J FJ; Wang, Xianshu X; Vachon, Celine C; Olson, Janet E JE; Lambrechts, Diether D; Moisse, Matthieu M; Paridaens, Robert R; Christiaens, Marie-Rose MR; Guénel, Pascal P; Truong, Thérèse T; Laurent-Puig, Pierre P; Mulot, Claire C; Marme, Frederick F; Burwinkel, Barbara B; Schneeweiss, Andreas A; Sohn, Christof C; Sawyer, Elinor J EJ; Tomlinson, Ian I; Kerin, Michael J MJ; Miller, Nicola N; Andrulis, Irene L IL; Knight, Julia A JA; Tchatchou, Sandrine S; Mulligan, Anna Marie AM; Dörk, Thilo T; Bogdanova, Natalia V NV; Antonenkova, Natalia N NN; Anton-Culver, Hoda H; Darabi, Hatef H; Eriksson, Mikael M; Garcia-Closas, Montserrat M; Figueroa, Jonine J; Lissowska, Jolanta J; Brinton, Louise L; Devilee, Peter P; Tollenaar, Robert A E M RA; Seynaeve, Caroline C; van Asperen, Christi J CJ; Kristensen, Vessela N VN; , ; , ; Slager, Susan S; Toland, Amanda E AE; Ambrosone, Christine B CB; Yannoukakos, Drakoulis D; Lindblom, Annika A; Margolin, Sara S; Radice, Paolo P; Peterlongo, Paolo P; Barile, Monica M; Mariani, Paolo P; Hooning, Maartje J MJ; Martens, John W M JW; Collée, J Margriet JM; Jager, Agnes A; Jakubowska, Anna A; Lubinski, Jan J; Jaworska-Bieniek, Katarzyna K; Durda, Katarzyna K; Giles, Graham G GG; McLean, Catriona C; Brauch, Hiltrud H; Brüning, Thomas T; Ko, Yon-Dschun YD; , ; Brenner, Hermann H; Dieffenbach, Aida Karina AK; Arndt, Volker V; Stegmaier, Christa C; Swerdlow, Anthony A; Ashworth, Alan A; Orr, Nick N; Jones, Michael M; Simard, Jacques J; Goldberg, Mark S MS; Labrèche, France F; Dumont, Martine M; Winqvist, Robert R; Pylkäs, Katri K; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Mannermaa, Arto A; Hamann, Ute U; Chenevix-Trench, Georgia G; Blomqvist, Carl C; Aittomäki, Kristiina K; Easton, Douglas F DF; Nevanlinna, Heli H
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: CASP10: V410I; rs13010627
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Peterlongo, Paolo P; Chang-Claude, Jenny J; Moysich, Kirsten B KB; Rudolph, Anja A; Schmutzler, Rita K RK; Simard, Jacques J; Soucy, Penny P; Eeles, Rosalind A RA; Easton, Douglas F DF; Hamann, Ute U; Wilkening, Stefan S; Chen, Bowang B; Rookus, Matti A MA; Schmidt, Marjanka K MK; van der Baan, Frederieke H FH; Spurdle, Amanda B AB; Walker, Logan C LC; Lose, Felicity F; Maia, Ana-Teresa AT; Montagna, Marco M; Matricardi, Laura L; Lubinski, Jan J; Jakubowska, Anna A; Gómez Garcia, Encarna B EB; Olopade, Olufunmilayo I OI; Nussbaum, Robert L RL; Nathanson, Katherine L KL; Domchek, Susan M SM; Rebbeck, Timothy R TR; Arun, Banu K BK; Karlan, Beth Y BY; Orsulic, Sandra S; Lester, Jenny J; Chung, Wendy K WK; Miron, Alex A; Southey, Melissa C MC; Goldgar, David E DE; Buys, Saundra S SS; Janavicius, Ramunas R; Dorfling, Cecilia M CM; van Rensburg, Elizabeth J EJ; Ding, Yuan Chun YC; Neuhausen, Susan L SL; Hansen, Thomas V O TV; Gerdes, Anne-Marie AM; Ejlertsen, Bent B; Jønson, Lars L; Osorio, Ana A; Martínez-Bouzas, Cristina C; Benitez, Javier J; Conway, Edye E EE; Blazer, Kathleen R KR; Weitzel, Jeffrey N JN; Manoukian, Siranoush S; Peissel, Bernard B; Zaffaroni, Daniela D; Scuvera, Giulietta G; Barile, Monica M; Ficarazzi, Filomena F; Mariette, Frederique F; Fortuzzi, Stefano S; Viel, Alessandra A; Giannini, Giuseppe G; Papi, Laura L; Martayan, Aline A; Tibiletti, Maria Grazia MG; Radice, Paolo P; Vratimos, Athanassios A; Fostira, Florentia F; Garber, Judy E JE; Donaldson, Alan A; Brewer, Carole C; Foo, Claire C; Evans, D Gareth R DG; Frost, Debra D; Eccles, Diana D; Brady, Angela A; Cook, Jackie J; Tischkowitz, Marc M; Adlard, Julian J; Barwell, Julian J; Walker, Lisa L; Izatt, Louise L; Side, Lucy E LE; Kennedy, M John MJ; Rogers, Mark T MT; Porteous, Mary E ME; Morrison, Patrick J PJ; Platte, Radka R; Davidson, Rosemarie R; Hodgson, Shirley V SV; Ellis, Steve S; Cole, Trevor T; , ; Godwin, Andrew K AK; Claes, Kathleen K; Van Maerken, Tom T; Meindl, Alfons A; Gehrig, Andrea A; Sutter, Christian C; Engel, Christoph C; Niederacher, Dieter D; Steinemann, Doris D; Plendl, Hansjoerg H; Kast, Karin K; Rhiem, Kerstin K; Ditsch, Nina N; Arnold, Norbert N; Varon-Mateeva, Raymonda R; Wappenschmidt, Barbara B; Wang-Gohrke, Shan S; Bressac-de Paillerets, Brigitte B; Buecher, Bruno B; Delnatte, Capucine C; Houdayer, Claude C; Stoppa-Lyonnet, Dominique D; Damiola, Francesca F; Coupier, Isabelle I; Barjhoux, Laure L; Venat-Bouvet, Laurence L; Golmard, Lisa L; Boutry-Kryza, Nadia N; Sinilnikova, Olga M OM; Caron, Olivier O; Pujol, Pascal P; Mazoyer, Sylvie S; Belotti, Muriel M; , ; Piedmonte, Marion M; Friedlander, Michael L ML; Rodriguez, Gustavo C GC; Copeland, Larry J LJ; de la Hoya, Miguel M; Segura, Pedro Perez PP; Nevanlinna, Heli H; Aittomäki, Kristiina K; van Os, Theo A M TA; Meijers-Heijboer, Hanne E J HE; van der Hout, Annemarie H AH; Vreeswijk, Maaike P G MP; Hoogerbrugge, Nicoline N; Ausems, Margreet G E M MG; van Doorn, Helena C HC; Collée, J Margriet JM; , ; Olah, Edith E; Diez, Orland O; Blanco, Ignacio I; Lazaro, Conxi C; Brunet, Joan J; Feliubadalo, Lidia L; Cybulski, Cezary C; Gronwald, Jacek J; Durda, Katarzyna K; Jaworska-Bieniek, Katarzyna K; Sukiennicki, Grzegorz G; Arason, Adalgeir A; Chiquette, Jocelyne J; Teixeira, Manuel R MR; Olswold, Curtis C; Couch, Fergus J FJ; Lindor, Noralane M NM; Wang, Xianshu X; Szabo, Csilla I CI; Offit, Kenneth K; Corines, Marina M; Jacobs, Lauren L; Robson, Mark E ME; Zhang, Liying L; Joseph, Vijai V; Berger, Andreas A; Singer, Christian F CF; Rappaport, Christine C; Kaulich, Daphne Geschwantler DG; Pfeiler, Georg G; Tea, Muy-Kheng M MK; Phelan, Catherine M CM; Greene, Mark H MH; Mai, Phuong L PL; Rennert, Gad G; Mulligan, Anna Marie AM; Glendon, Gord G; Tchatchou, Sandrine S; Andrulis, Irene L IL; Toland, Amanda Ewart AE; Bojesen, Anders A; Pedersen, Inge Sokilde IS; Thomassen, Mads M; Jensen, Uffe Birk UB; Laitman, Yael Y; Rantala, Johanna J; von Wachenfeldt, Anna A; Ehrencrona, Hans H; Askmalm, Marie Stenmark MS; Borg, Åke Å; Kuchenbaecker, Karoline B KB; McGuffog, Lesley L; Barrowdale, Daniel D; Healey, Sue S; Lee, Andrew A; Pharoah, Paul D P PD; Chenevix-Trench, Georgia G; , ; Antoniou, Antonis C AC; Friedman, Eitan E
Silencer of death domains controls cell death through tumour necrosis factor-receptor 1 and caspase-10 in acute lymphoblastic leukemia.
Plos One
Cisterne, Adam A; Baraz, Rana R; Khan, Naveed I NI; Welschinger, Robert R; Basnett, Jordan J; Fung, Carina C; Rizos, Helen H; Bradstock, Kenneth F KF; Bendall, Linda J LJ
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Prognostic Impact of Polymorphisms in the CASPASE Genes on Survival of Patients with Colorectal Cancer.
Cancer Research And Treatment
Choi, Jun Young JY; Kim, Jong Gwang JG; Lee, You Jin YJ; Chae, Yee Soo YS; Sohn, Sang Kyun SK; Moon, Joon Ho JH; Kang, Byung Woog BW; Jung, Min Kyu MK; Jeon, Seong Woo SW; Park, Jun Seok JS; Choi, Gyu Seog GS
Publication Date: 2012-03
Variant appearance in text: CASP10: V410I; rs13010627
Genome-wide association analysis identifies three new breast cancer susceptibility loci.
Nature Genetics
Ghoussaini, Maya M; Fletcher, Olivia O; Michailidou, Kyriaki K; Turnbull, Clare C; Schmidt, Marjanka K MK; Dicks, Ed E; Dennis, Joe J; Wang, Qin Q; Humphreys, Manjeet K MK; Luccarini, Craig C; Baynes, Caroline C; Conroy, Don D; Maranian, Melanie M; Ahmed, Shahana S; Driver, Kristy K; Johnson, Nichola N; Orr, Nicholas N; dos Santos Silva, Isabel I; Waisfisz, Quinten Q; Meijers-Heijboer, Hanne H; Uitterlinden, Andre G AG; Rivadeneira, Fernando F; , ; Hall, Per P; Czene, Kamila K; Irwanto, Astrid A; Liu, Jianjun J; Nevanlinna, Heli H; Aittomäki, Kristiina K; Blomqvist, Carl C; Meindl, Alfons A; Schmutzler, Rita K RK; Müller-Myhsok, Bertram B; Lichtner, Peter P; Chang-Claude, Jenny J; Hein, Rebecca R; Nickels, Stefan S; Flesch-Janys, Dieter D; Tsimiklis, Helen H; Makalic, Enes E; Schmidt, Daniel D; Bui, Minh M; Hopper, John L JL; Apicella, Carmel C; Park, Daniel J DJ; Southey, Melissa M; Hunter, David J DJ; Chanock, Stephen J SJ; Broeks, Annegien A; Verhoef, Senno S; Hogervorst, Frans B L FB; Fasching, Peter A PA; Lux, Michael P MP; Beckmann, Matthias W MW; Ekici, Arif B AB; Sawyer, Elinor E; Tomlinson, Ian I; Kerin, Michael M; Marme, Frederik F; Schneeweiss, Andreas A; Sohn, Christof C; Burwinkel, Barbara B; Guénel, Pascal P; Truong, Thérèse T; Cordina-Duverger, Emilie E; Menegaux, Florence F; Bojesen, Stig E SE; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Flyger, Henrik H; Milne, Roger L RL; Alonso, M Rosario MR; González-Neira, Anna A; Benítez, Javier J; Anton-Culver, Hoda H; Ziogas, Argyrios A; Bernstein, Leslie L; Dur, Christina Clarke CC; Brenner, Hermann H; Müller, Heiko H; Arndt, Volker V; Stegmaier, Christa C; , ; Justenhoven, Christina C; Brauch, Hiltrud H; Brüning, Thomas T; , ; Wang-Gohrke, Shan S; Eilber, Ursula U; Dörk, Thilo T; Schürmann, Peter P; Bremer, Michael M; Hillemanns, Peter P; Bogdanova, Natalia V NV; Antonenkova, Natalia N NN; Rogov, Yuri I YI; Karstens, Johann H JH; Bermisheva, Marina M; Prokofieva, Darya D; Khusnutdinova, Elza E; Lindblom, Annika A; Margolin, Sara S; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Lambrechts, Diether D; Yesilyurt, Betul T BT; Floris, Giuseppe G; Leunen, Karin K; Manoukian, Siranoush S; Bonanni, Bernardo B; Fortuzzi, Stefano S; Peterlongo, Paolo P; Couch, Fergus J FJ; Wang, Xianshu X; Stevens, Kristen K; Lee, Adam A; Giles, Graham G GG; Baglietto, Laura L; Severi, Gianluca G; McLean, Catriona C; Alnaes, Grethe Grenaker GG; Kristensen, Vessela V; Børrensen-Dale, Anne-Lise AL; John, Esther M EM; Miron, Alexander A; Winqvist, Robert R; Pylkäs, Katri K; Jukkola-Vuorinen, Arja A; Kauppila, Saila S; Andrulis, Irene L IL; Glendon, Gord G; Mulligan, Anna Marie AM; Devilee, Peter P; van Asperen, Christie J CJ; Tollenaar, Rob A E M RA; Seynaeve, Caroline C; Figueroa, Jonine D JD; Garcia-Closas, Montserrat M; Brinton, Louise L; Lissowska, Jolanta J; Hooning, Maartje J MJ; Hollestelle, Antoinette A; Oldenburg, Rogier A RA; van den Ouweland, Ans M W AM; Cox, Angela A; Reed, Malcolm W R MW; Shah, Mitul M; Jakubowska, Ania A; Lubinski, Jan J; Jaworska, Katarzyna K; Durda, Katarzyna K; Jones, Michael M; Schoemaker, Minouk M; Ashworth, Alan A; Swerdlow, Anthony A; Beesley, Jonathan J; Chen, Xiaoqing X; , ; , ; Muir, Kenneth R KR; Lophatananon, Artitaya A; Rattanamongkongul, Suthee S; Chaiwerawattana, Arkom A; Kang, Daehee D; Yoo, Keun-Young KY; Noh, Dong-Young DY; Shen, Chen-Yang CY; Yu, Jyh-Cherng JC; Wu, Pei-Ei PE; Hsiung, Chia-Ni CN; Perkins, Annie A; Swann, Ruth R; Velentzis, Louiza L; Eccles, Diana M DM; Tapper, Will J WJ; Gerty, Susan M SM; Graham, Nikki J NJ; Ponder, Bruce A J BA; Chenevix-Trench, Georgia G; Pharoah, Paul D P PD; Lathrop, Mark M; Dunning, Alison M AM; Rahman, Nazneen N; Peto, Julian J; Easton, Douglas F DF
Fine-mapping CASP8 risk variants in breast cancer.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Camp, Nicola J NJ; Parry, Marina M; Knight, Stacey S; Abo, Ryan R; Elliott, Graeme G; Rigas, Sushilaben H SH; Balasubramanian, Sabapathy P SP; Reed, Malcolm W R MW; McBurney, Helen H; Latif, Ayse A; Newman, William G WG; Cannon-Albright, Lisa A LA; Evans, D Gareth DG; Cox, Angela A
Publication Date: 2012-01
Variant appearance in text: CASP10: V410I; rs13010627
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Engel, Christoph C; Versmold, Beatrix B; Wappenschmidt, Barbara B; Simard, Jacques J; Easton, Douglas F DF; Peock, Susan S; Cook, Margaret M; Oliver, Clare C; Frost, Debra D; Mayes, Rebecca R; Evans, D Gareth DG; Eeles, Rosalind R; Paterson, Joan J; Brewer, Carole C; , ; McGuffog, Lesley L; Antoniou, Antonis C AC; Stoppa-Lyonnet, Dominique D; Sinilnikova, Olga M OM; Barjhoux, Laure L; Frenay, Marc M; Michel, Cécile C; Leroux, Dominique D; Dreyfus, Helene H; Toulas, Christine C; Gladieff, Laurence L; Uhrhammer, Nancy N; Bignon, Yves-Jean YJ; Meindl, Alfons A; Arnold, Norbert N; Varon-Mateeva, Raymonda R; Niederacher, Dieter D; Preisler-Adams, Sabine S; Kast, Karin K; Deissler, Helmut H; Sutter, Christian C; Gadzicki, Dorothea D; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Chen, Xiaoqing X; Beesley, Jonathan J; , ; Olsson, Håkan H; Kristoffersson, Ulf U; Ehrencrona, Hans H; Liljegren, Annelie A; , ; van der Luijt, Rob B RB; van Os, Theo A TA; van Leeuwen, Flora E FE; , ; Domchek, Susan M SM; Rebbeck, Timothy R TR; Nathanson, Katherine L KL; Osorio, Ana A; Ramón y Cajal, Teresa T; Konstantopoulou, Irene I; Benítez, Javier J; Friedman, Eitan E; Kaufman, Bella B; Laitman, Yael Y; Mai, Phuong L PL; Greene, Mark H MH; Nevanlinna, Heli H; Aittomäki, Kristiina K; Szabo, Csilla I CI; Caldes, Trinidad T; Couch, Fergus J FJ; Andrulis, Irene L IL; Godwin, Andrew K AK; Hamann, Ute U; Schmutzler, Rita K RK; ,
Publication Date: 2010-11
Variant appearance in text: CASP10: V410I; rs13010627
The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck.
Cancer Prevention Research (Philadelphia, Pa.)
Li, Chunying C; Lu, Jiachun J; Liu, Zhensheng Z; Wang, Li-E LE; Zhao, Hui H; El-Naggar, Adel K AK; Sturgis, Erich M EM; Wei, Qingyi Q
Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Gaudet, Mia M MM; Milne, Roger L RL; Cox, Angela A; Camp, Nicola J NJ; Goode, Ellen L EL; Humphreys, Manjeet K MK; Dunning, Alison M AM; Morrison, Jonathan J; Giles, Graham G GG; Severi, Gianluca G; Baglietto, Laura L; English, Dallas R DR; Couch, Fergus J FJ; Olson, Janet E JE; Wang, Xianshu X; Chang-Claude, Jenny J; Flesch-Janys, Dieter D; Abbas, Sascha S; Salazar, Ramona R; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; Lindblom, Annika A; Margolin, Sara S; Heikkinen, Tuomas T; Kämpjärvi, Kati K; Aaltonen, Kirsimari K; Nevanlinna, Heli H; Bogdanova, Natalia N; Coinac, Irina I; Schürmann, Peter P; Dörk, Thilo T; Bartram, Claus R CR; Schmutzler, Rita K RK; Tchatchou, Sandrine S; Burwinkel, Barbara B; Brauch, Hiltrud H; Torres, Diana D; Hamann, Ute U; Justenhoven, Christina C; Ribas, Gloria G; Arias, José I JI; Benitez, Javier J; Bojesen, Stig E SE; Nordestgaard, Børge G BG; Flyger, Henrik L HL; Peto, Julian J; Fletcher, Olivia O; Johnson, Nichola N; Dos Santos Silva, Isabel I; Fasching, Peter A PA; Beckmann, Matthias W MW; Strick, Reiner R; Ekici, Arif B AB; Broeks, Annegien A; Schmidt, Marjanka K MK; van Leeuwen, Flora E FE; Van't Veer, Laura J LJ; Southey, Melissa C MC; Hopper, John L JL; Apicella, Carmel C; Haiman, Christopher A CA; Henderson, Brian E BE; Le Marchand, Loic L; Kolonel, Laurence N LN; Kristensen, Vessela V; Grenaker Alnaes, Grethe G; Hunter, David J DJ; Kraft, Peter P; Cox, David G DG; Hankinson, Susan E SE; Seynaeve, Caroline C; Vreeswijk, Maaike P G MP; Tollenaar, Rob A E M RA; Devilee, Peter P; Chanock, Stephen S; Lissowska, Jolanta J; Brinton, Louise L; Peplonska, Beata B; Czene, Kamila K; Hall, Per P; Li, Yuqing Y; Liu, Jianjun J; Balasubramanian, Sabapathy S; Rafii, Saeed S; Reed, Malcolm W R MW; Pooley, Karen A KA; Conroy, Don D; Baynes, Caroline C; Kang, Daehee D; Yoo, Keun-Young KY; Noh, Dong-Young DY; Ahn, Sei-Hyun SH; Shen, Chen-Yang CY; Wang, Hui-Chun HC; Yu, Jyh-Cherng JC; Wu, Pei-Ei PE; Anton-Culver, Hoda H; Ziogoas, Argyrios A; Egan, Kathleen K; Newcomb, Polly P; Titus-Ernstoff, Linda L; Trentham Dietz, Amy A; Sigurdson, Alice J AJ; Alexander, Bruce H BH; Bhatti, Parveen P; Allen-Brady, Kristina K; Cannon-Albright, Lisa A LA; Wong, Jathine J; , ; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Beesley, Jonathan J; Pharoah, Paul D P PD; Easton, Doug F DF; Garcia-Closas, Montserrat M; ,
Caspase-10 is recruited to and activated at the native TRAIL and CD95 death-inducing signalling complexes in a FADD-dependent manner but can not functionally substitute caspase-8.
The Embo Journal
Sprick, Martin R MR; Rieser, Eva E; Stahl, Heiko H; Grosse-Wilde, Anne A; Weigand, Markus A MA; Walczak, Henning H