Zobrazeno 1 - 10
of 1 996
pro vyhledávání: '"A Spurdle"'
Autor:
Srilakshmi Srinivasan, Thomas Kryza, Nathalie Bock, Brian W. C. Tse, Kamil A. Sokolowski, Panchadsaram Janaththani, Achala Fernando, Leire Moya, Carson Stephens, Ying Dong, Joan Röhl, Saeid Alinezhad, Ian Vela, Joanna L. Perry-Keene, Katie Buzacott, Robert Nica, The IMPACT Study, Manuela Gago-Dominguez, The PROFILE Study Steering Committee, Johanna Schleutker, Christiane Maier, Kenneth Muir, Catherine M. Tangen, Henrik Gronberg, Nora Pashayan, Demetrius Albanes, Alicja Wolk, Janet L. Stanford, Sonja I. Berndt, Lorelei A. Mucci, Stella Koutros, Olivier Cussenot, Karina Dalsgaard Sorensen, Eli Marie Grindedal, Ruth C. Travis, Christopher A. Haiman, Robert J. MacInnis, Ana Vega, Fredrik Wiklund, David E. Neal, Manolis Kogevinas, Kathryn L. Penney, Børge G. Nordestgaard, Hermann Brenner, Esther M. John, Marija Gamulin, Frank Claessens, Olle Melander, Anders Dahlin, Pär Stattin, Göran Hallmans, Christel Häggström, Robert Johansson, Elin Thysell, Ann-Charlotte Rönn, Weiqiang Li, Nigel Brown, Goce Dimeski, Benjamin Shepherd, Tokhir Dadaev, Mark N. Brook, Amanda B. Spurdle, Ulf-Håkan Stenman, Hannu Koistinen, Zsofia Kote-Jarai, Robert J. Klein, Hans Lilja, Rupert C. Ecker, Rosalind Eeles, The Practical Consortium, The Australian Prostate Cancer BioResource, Judith Clements, Jyotsna Batra
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
Abstract Genetic variation at the 19q13.3 KLK locus is linked with prostate cancer susceptibility in men. The non-synonymous KLK3 single nucleotide polymorphism (SNP), rs17632542 (c.536 T > C; Ile163Thr-substitution in PSA) is associated with reduced
Externí odkaz:
https://doaj.org/article/8eafcf751cfb463fb1624d18ac08892c
Autor:
Giovanni Innella, Cristina Fortuno, Laura Caleca, Bing‐Jian Feng, Courtney Carroll, Michael T. Parsons, Sara Miccoli, Marco Montagna, Daniele Calistri, Laura Cortesi, Barbara Pasini, Siranoush Manoukian, Daniela Giachino, Laura Matricardi, Maria Cristina Foti, Valentina Zampiga, Claudia Piombino, Elena Barbieri, Francesca Vignolo Lutati, Jacopo Azzolini, Rita Danesi, Valentina Arcangeli, Sandrine M. Caputo, Nadia Boutry‐Kryza, Vincent Goussot, Susan Hiraki, Marcy Richardson, Hereditary Breast/Ovarian Cancer IOV network (HBOC IOVnet), Simona Ferrari, Paolo Radice, Amanda B. Spurdle, Daniela Turchetti
Publikováno v:
Cancer Medicine, Vol 13, Iss 16, Pp n/a-n/a (2024)
Abstract Background BRCA1:c.5017_5019del (p.His1673del) is a founder variant relatively frequent in Northern Italy. Despite previous suggestion of pathogenicity, variant classification in public databases is still conflicting, needing additional evid
Externí odkaz:
https://doaj.org/article/32f976e151b24f91bbf40981195926b1
Autor:
Richardson, Marcy E. 1, ∗, Holdren, Megan 2, Brannan, Terra 1, de la Hoya, Miguel 3, Spurdle, Amanda B. 4, Tavtigian, Sean V. 5, Young, Colin C. 1, Zec, Lauren 6, Hiraki, Susan 7, Anderson, Michael J. 8, Walker, Logan C. 9, McNulty, Shannon 10, Turnbull, Clare 11, Tischkowitz, Marc 12, Schon, Katherine 12, Slavin, Thomas 13, Foulkes, William D. 14, Cline, Melissa 15, Monteiro, Alvaro N. 16, Pesaran, Tina 1, Couch, Fergus J. 2, ∗∗
Publikováno v:
In The American Journal of Human Genetics 7 November 2024 111(11):2411-2426
Autor:
Parsons, Michael T. 1, ∗, de la Hoya, Miguel 2, Richardson, Marcy E. 3, Tudini, Emma 1, Anderson, Michael 4, Berkofsky-Fessler, Windy 5, Caputo, Sandrine M. 6, Chan, Raymond C. 7, Cline, Melissa S. 8, Feng, Bing-Jian 9, Fortuno, Cristina 1, Gomez-Garcia, Encarna 10, Hadler, Johanna 1, Hiraki, Susan 5, Holdren, Megan 11, Houdayer, Claude 12, Hruska, Kathleen 5, James, Paul 13, Karam, Rachid 3, Leong, Huei San 14, Martins, Alexandra 15, Mensenkamp, Arjen R. 16, Monteiro, Alvaro N. 17, Nathan, Vaishnavi 1, O'Connor, Robert 7, Pedersen, Inge Sokilde 18, 19, 20, Pesaran, Tina 3, Radice, Paolo 21, Schmidt, Gunnar 22, Southey, Melissa 23, 24, 25, Tavtigian, Sean 26, Thompson, Bryony A. 27, Toland, Amanda E. 28, Turnbull, Clare 29, Vogel, Maartje J. 30, Weyandt, Jamie 3, Wiggins, George A.R. 31, Zec, Lauren 32, Couch, Fergus J. 11, Walker, Logan C. 31, Vreeswijk, Maaike P.G. 33, Goldgar, David E. 9, Spurdle, Amanda B. 1, 34, ∗∗
Publikováno v:
In The American Journal of Human Genetics 5 September 2024 111(9):2044-2058
Autor:
Azmanov, Dimitar N., Barnett, Christopher P., Barry, Simon C., Baynam, Gareth, Berkovic, Samuel F., Christodoulou, John, Coman, David J., Cooper, Sandra, Corbett, Mark A., Delatycki, Martin, Dudding, Tracy E., Fletcher, Sue, Gardner, Alison E., Gecz, Jozef, Higgins, Megan J., Hildebrand, Michael S., Jolly, Lachlan A., Lister, Ryan, McGaughran, Julie, Pflueger, Christian, Poulton, Cathryn, Roscioli, Tony, Hamish S. Scott, Ingrid Scheffer, Sinclair, Andrew H., Spurdle, Amanda B., Tan, Tiong Y., van Eyk, Clare L., Voineagu, Irina, Nicolas-Martinez, Emmylou C. 1, 2, Robinson, Olivia 1, 2, Gardner, Alison 1, 5, Ritchie, Tarin 1, 5, Kroes, Thessa 1, 5, Scheffer, Ingrid E. 6, 7, 8, 9, Barnier, Jean-Vianney 10, Rousseau, Véronique 10, Genevieve, David 11, Haushalter, Virginie 12, Piton, Amélie 12, Denommé-Pichon, Anne-Sophie 13, 14, Bruel, Ange-Line 13, 14, Nambot, Sophie 13, 14, Isidor, Bertrand 13, 14, Grigg, John 15, Gonzalez, Tina 16, Ghedia, Sondhya 16, Marchant, Rhett G. 17, 18, Bournazos, Adam 17, 19, Wong, Wui-Kwan 17, 19, 20, Webster, Richard I. 20, Evesson, Frances J. 17, 18, 19, Jones, Kristi J. 17, 19, 21, Cooper, Sandra T. 17, 18, 19
Publikováno v:
In The American Journal of Human Genetics 8 August 2024 111(8):1673-1699
Autor:
Ines Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, Ieva Miceikaite, Daniel Sdogati, Martin J. Larsen, Qin Hao, Henriette Roed Nielsen, Susanne E. Boonen, Anne-Bine Skytte, Uffe Birk Jensen, Louise K. Høffding, Arcangela De Nicolo, Alessandra Viel, Emma Tudini, Michael T. Parsons, Thomas V. O. Hansen, Maria Rossing, Torben A. Kruse, Amanda B. Spurdle, Mads Thomassen
Publikováno v:
Breast Cancer Research, Vol 26, Iss 1, Pp 1-14 (2024)
Abstract Background Reports of dual carriers of pathogenic BRCA1 variants in trans are extremely rare, and so far, most individuals have been associated with a Fanconi Anemia-like phenotype. Methods We identified two families with a BRCA1 in-frame ex
Externí odkaz:
https://doaj.org/article/7555813f6f454c71871a5c318d759708
Autor:
Villani, Rehan M. 1, McKenzie, Maddison E. 1, Davidson, Aimee L. 1, Spurdle, Amanda B. 1, 2, ∗
Publikováno v:
In The American Journal of Human Genetics 11 July 2024 111(7):1301-1315
Autor:
Sahlberg, Kristine K., Børresen-Dale, Anne-Lise, Gram, Inger Torhild, Olsen, Karina Standahl, Engebråten, Olav, Naume, Bjørn, Geisler, Jürgen, OSBREAC, Grenaker Alnæs, Grethe I., Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Cao, Michelle, Chakrabarti, Anannya, Chauhan, Deepa, Chauhan, Manisha, Chenevix-Trench, Georgia, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Courtney, Eliza, Cummings, Margaret, Dawson, Sarah-Jane, DeFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edkins, Ted, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, James, Paul, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lee, Jason, Li, Shuai, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Loi, Sherene, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Meiser, Bettina, Milne, Roger, Nightingale, Sophie, O'Connell, Shona, O'Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Pang, Jia-Min, Pathak, Gargi, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Ramus, Susan, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Skandarajah, Anita, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Scott, Rodney, Scott, Clare, Sexton, Adrienne, Shelling, Andrew, Simpson, Peter, Southey, Melissa, Spurdle, Amanda, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, Young, Mary Ann, Zaheed, Milita, Morra, Anna 1, ∗, Mavaddat, Nasim 2, Muranen, Taru A. 3, Ahearn, Thomas U. 4, Allen, Jamie 2, Andrulis, Irene L. 5, 6, Auvinen, Päivi 7, 8, 9, Becher, Heiko 10, Behrens, Sabine 11, Blomqvist, Carl 12, Bojesen, Stig E. 13, 14, 15, Bolla, Manjeet K. 2, Brauch, Hiltrud 16, 17, 18, Camp, Nicola J. 19, Carvalho, Sara 2, Castelao, Jose E. 20, Cessna, Melissa H. 21, Chang-Claude, Jenny 11, 22, Czene, Kamila 34, Decker, Brennan 2, 35, Dennis, Joe 2, Dörk, Thilo 36, Dorling, Leila 2, Dunning, Alison M. 37, Ekici, Arif B. 38, Eriksson, Mikael 34, Evans, D. Gareth 39, 40, Fasching, Peter A. 41, Figueroa, Jonine D. 4, 42, 43, Flyger, Henrik 44, Gago-Dominguez, Manuela 45, 46, García-Closas, Montserrat 4, Geurts-Giele, Willemina R.R. 47, Giles, Graham G. 48, 49, 50, Guénel, Pascal 51, Gündert, Melanie 52, 53, 54, Hahnen, Eric 55, 56, Hall, Per 34, 57, Hamann, Ute 58, Harrington, Patricia A. 37, He, Wei 34, Heikkilä, Päivi 59, Hooning, Maartje J. 60, Hoppe, Reiner 16, 61, Howell, Anthony 62, Humphreys, Keith 34, Jakubowska, Anna 65, 66, Jung, Audrey Y. 11, Keeman, Renske 1, Kristensen, Vessela N. 25, 31, Lubiński, Jan 65, Mannermaa, Arto 7, 67, 68, Manoochehri, Mehdi 58, Manoukian, Siranoush 69, Margolin, Sara 57, 70, Mavroudis, Dimitrios 71, Milne, Roger L. 48, 49, 50, Mulligan, Anna Marie 72, 73, Newman, William G. 39, 40, Park-Simon, Tjoung-Won 36, Peterlongo, Paolo 74, Pharoah, Paul D.P. 2, 37, Rhenius, Valerie 37, Saloustros, Emmanouil 75, Sawyer, Elinor J. 76, Schmutzler, Rita K. 55, 56, 77, Shah, Mitul 37, Spurdle, Amanda B. 78, Tomlinson, Ian 79, 80, Truong, Thérèse 51, van Veen, Elke M. 39, 40, Vreeswijk, Maaike P.G. 81, Wang, Qin 2, Wendt, Camilla 57, 70, Yang, Xiaohong R. 4, Nevanlinna, Heli 3, Devilee, Peter 81, 82, Easton, Douglas F. 2, 37, Schmidt, Marjanka K. 1, 83, ∗∗
Publikováno v:
In The American Journal of Human Genetics 2 March 2023 110(3):475-486
Autor:
Byrne, Alicia, Spurdle, Amanda, Palculict, Blake, Coe, Bradley, Deqiong, Ma, Lyon, Elaine, Groopman, Emily, Qian, Emily, Puffenberger, Erik, Riggs, Erin, Couch, Fergus, Maston, Glenn, Dziadzio, Hannah, Harraway, James, Mester, Jessica, Garcia, John, Lerner-Ellis, Jordan, Benson, Katherine, Avello, Kayleigh, McGoldrick, Kelly, Conlin, Laura, Zec, Lauren, Steeves, Marcie, Richardson, Marcy, Lebo, Matt, Kelly, Melissa, Gollob, Michael, Luo, Minjie, Ganapathi, Mythily, Watkins, Nicholas, Niu, Nifang, Sergouniotis, Panagiotis, Bayrak-Toydemir, Pinar, Schmidt, Ryan, Schilit, Samantha, Richards, Sarah, Pesaran, Tina, Pollin, Toni, Jobanputra, Vaidehi, Zhang, Wenying, Chen, Wuyan, Fan, Yuxin, Schmidt, Ryan J. 1, ∗, Benson, Katherine A. 4, Coe, Bradley P. 5, Conlin, Laura K. 6, 7, Gollob, Michael H. 10, Ma, Deqiong 12, Palculict, T. Blake 15, Pollin, Toni I. 16, Rehm, Heidi L. 18, Riggs, Erin R. 19, Schilit, Samantha L.P. 20, Sergouniotis, Panagiotis I. 21, Tvrdik, Tatiana 22, Lebo, Matthew S. 26, ∗
Publikováno v:
In Genetics in Medicine March 2024 26(3)
Autor:
Aimee L. Davidson, Uwe Dressel, Sarah Norris, Daffodil M. Canson, Dylan M. Glubb, Cristina Fortuno, Georgina E. Hollway, Michael T. Parsons, Miranda E. Vidgen, Oliver Holmes, Lambros T. Koufariotis, Vanessa Lakis, Conrad Leonard, Scott Wood, Qinying Xu, Amy E. McCart Reed, Hilda A. Pickett, Mohammad K. Al-Shinnag, Rachel L. Austin, Jo Burke, Elisa J. Cops, Cassandra B. Nichols, Annabel Goodwin, Marion T. Harris, Megan J. Higgins, Emilia L. Ip, Catherine Kiraly-Borri, Chiyan Lau, Julia L. Mansour, Michael W. Millward, Melissa J. Monnik, Nicholas S. Pachter, Abiramy Ragunathan, Rachel D. Susman, Sharron L. Townshend, Alison H. Trainer, Simon L. Troth, Katherine M. Tucker, Mathew J. Wallis, Maie Walsh, Rachel A. Williams, Ingrid M. Winship, Felicity Newell, Emma Tudini, John V. Pearson, Nicola K. Poplawski, Helen G. Mar Fan, Paul A. James, Amanda B. Spurdle, Nicola Waddell, Robyn L. Ward
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
Abstract Background Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk f
Externí odkaz:
https://doaj.org/article/e7517b7792c7450392b54b67bde9ca87