Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Sabine Topka"'
Autor:
Aurel Prosz, Haohui Duan, Viktoria Tisza, Pranshu Sahgal, Sabine Topka, Gregory T. Klus, Judit Börcsök, Zsofia Sztupinszki, Timothy Hanlon, Miklos Diossy, Laura Vizkeleti, Dag Rune Stormoen, Istvan Csabai, Helle Pappot, Joseph Vijai, Kenneth Offit, Thomas Ried, Nilay Sethi, Kent W. Mouw, Sandor Spisak, Shailja Pathania, Zoltan Szallasi
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Due to a demonstrated lack of DNA repair deficiencies, clear cell renal cell carcinoma (ccRCC) has not benefitted from targeted synthetic lethality-based therapies. We investigated whether nucleotide excision repair (NER) deficiency is prese
Externí odkaz:
https://doaj.org/article/939969bbc4324201be410156a45cd9e5
Autor:
Philip J. Law, Sonja I. Berndt, Helen E. Speedy, Nicola J. Camp, Georgina P. Sava, Christine F. Skibola, Amy Holroyd, Vijai Joseph, Nicola J. Sunter, Alexandra Nieters, Silvia Bea, Alain Monnereau, David Martin-Garcia, Lynn R. Goldin, Guillem Clot, Lauren R. Teras, Inés Quintela, Brenda M. Birmann, Sandrine Jayne, Wendy Cozen, Aneela Majid, Karin E. Smedby, Qing Lan, Claire Dearden, Angela R. Brooks-Wilson, Andrew G. Hall, Mark P. Purdue, Tryfonia Mainou-Fowler, Claire M. Vajdic, Graham H. Jackson, Pierluigi Cocco, Helen Marr, Yawei Zhang, Tongzhang Zheng, Graham G. Giles, Charles Lawrence, Timothy G. Call, Mark Liebow, Mads Melbye, Bengt Glimelius, Larry Mansouri, Martha Glenn, Karen Curtin, W Ryan Diver, Brian K. Link, Lucia Conde, Paige M. Bracci, Elizabeth A. Holly, Rebecca D. Jackson, Lesley F. Tinker, Yolanda Benavente, Paolo Boffetta, Paul Brennan, Marc Maynadie, James McKay, Demetrius Albanes, Stephanie Weinstein, Zhaoming Wang, Neil E. Caporaso, Lindsay M. Morton, Richard K. Severson, Elio Riboli, Paolo Vineis, Roel C. H. Vermeulen, Melissa C. Southey, Roger L. Milne, Jacqueline Clavel, Sabine Topka, John J. Spinelli, Peter Kraft, Maria Grazia Ennas, Geoffrey Summerfield, Giovanni M. Ferri, Robert J. Harris, Lucia Miligi, Andrew R. Pettitt, Kari E. North, David J. Allsup, Joseph F. Fraumeni, James R. Bailey, Kenneth Offit, Guy Pratt, Henrik Hjalgrim, Chris Pepper, Stephen J. Chanock, Chris Fegan, Richard Rosenquist, Silvia de Sanjose, Angel Carracedo, Martin J. S. Dyer, Daniel Catovsky, Elias Campo, James R. Cerhan, James M. Allan, Nathanial Rothman, Richard Houlston, Susan Slager
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)
Chronic lymphocytic leukaemia has a hereditary component, much of which remains to be identified. Here, the authors perform a genome-wide association study and find new risk loci for the disease, which are associated with genes involved in immune fun
Externí odkaz:
https://doaj.org/article/7260f008ee8e4abd981c7eed2433bb15
Autor:
Sabine Topka, Joseph Vijai, Michael F Walsh, Lauren Jacobs, Ann Maria, Danylo Villano, Pragna Gaddam, Gang Wu, Rose B McGee, Emily Quinn, Hiroto Inaba, Christine Hartford, Ching-Hon Pui, Alberto Pappo, Michael Edmonson, Michael Y Zhang, Polina Stepensky, Peter Steinherz, Kasmintan Schrader, Anne Lincoln, James Bussel, Steve M Lipkin, Yehuda Goldgur, Mira Harit, Zsofia K Stadler, Charles Mullighan, Michael Weintraub, Akiko Shimamura, Jinghui Zhang, James R Downing, Kim E Nichols, Kenneth Offit
Publikováno v:
PLoS Genetics, Vol 11, Iss 6, p e1005262 (2015)
Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose to ALL remain poorly understood. Here we identify a novel germline ETV6 p. L349P mutation in
Externí odkaz:
https://doaj.org/article/857b67bb97a141dd80ae77fd0dd250d4
Autor:
Sami Belhadj, Aliya Khurram, Chaitanya Bandlamudi, Guillermo Palou-Márquez, Vignesh Ravichandran, Zoe Steinsnyder, Temima Wildman, Amanda Catchings, Yelena Kemel, Semanti Mukherjee, Benjamin Fesko, Kanika Arora, Miika Mehine, Sita Dandiker, Aalin Izhar, John Petrini, Susan Domchek, Katherine L. Nathanson, Jamie Brower, Fergus Couch, Zsofia Stadler, Mark Robson, Michael Walsh, Joseph Vijai, Michael Berger, Fran Supek, Rachid Karam, Sabine Topka, Kenneth Offit
Publikováno v:
Clinical Cancer Research. 29:422-431
Purpose: To explore the role of NBN as a pan-cancer susceptibility gene. Experimental Design: Matched germline and somatic DNA samples from 34,046 patients were sequenced using Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Canc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6765ccc4641ab647bf5501bae4821a3
https://doi.org/10.1158/1078-0432.ccr-22-1703
https://doi.org/10.1158/1078-0432.ccr-22-1703
Autor:
Kenneth Offit, Gad Rennert, Larry Norton, Katherine L. Nathanson, Fergus J. Couch, Mark J. Daly, Jeffrey N. Weitzel, Mark Robson, Zsofia K. Stadler, Hedy Rennert, Flavio Lejbkowicz, Liying Zhang, Michael F. Walsh, Susan L. Neuhausen, Steve M. Lipkin, Steven N. Hart, Kasmintan A. Schrader, Shai Carmi, Brandon Wenz, Sarah Kazzaz, Anne Lincoln, Pragna Gaddam, Tinu Thomas, Ann Maria, Kara N. Maxwell, Vignesh Ravichandran, Danylo Villano, Sabine Topka, Joseph Vijai
Supplementary Figure 1. Electropherogram. Supplementary Figure 2. Ramachandran plot. Supplementary Figure 3. Modeling ERCC3 R109X via CRISPR/Cas9 genome editing. Supplementary Figure 4. Haplotype analyses from the TAGC heterozygote carriers. Suppleme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08baa6836c82c06efac7bc4ec1541105
https://doi.org/10.1158/2159-8290.22531127.v1
https://doi.org/10.1158/2159-8290.22531127.v1
Autor:
Kenneth Offit, Sabine Topka, Rachid Karam, Fran Supek, Michael Berger, Joseph Vijai, Michael Walsh, Mark Robson, Zsofia Stadler, Fergus Couch, Jamie Brower, Katherine L. Nathanson, Susan Domchek, John Petrini, Aalin Izhar, Sita Dandiker, Miika Mehine, Kanika Arora, Benjamin Fesko, Semanti Mukherjee, Yelena Kemel, Amanda Catchings, Temima Wildman, Zoe Steinsnyder, Vignesh Ravichandran, Guillermo Palou-Márquez, Chaitanya Bandlamudi, Aliya Khurram, Sami Belhadj
Supplementary Figure S1. Germline and somatic data from The Cancer Genome Atlas (TCGA) project, representing 10,268 cancer patients with whole exome sequencing data.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::692cfa22cc2afd66084d69faebdf809c
https://doi.org/10.1158/1078-0432.22489497.v1
https://doi.org/10.1158/1078-0432.22489497.v1
Autor:
Kenneth Offit, Sabine Topka, Rachid Karam, Fran Supek, Michael Berger, Joseph Vijai, Michael Walsh, Mark Robson, Zsofia Stadler, Fergus Couch, Jamie Brower, Katherine L. Nathanson, Susan Domchek, John Petrini, Aalin Izhar, Sita Dandiker, Miika Mehine, Kanika Arora, Benjamin Fesko, Semanti Mukherjee, Yelena Kemel, Amanda Catchings, Temima Wildman, Zoe Steinsnyder, Vignesh Ravichandran, Guillermo Palou-Márquez, Chaitanya Bandlamudi, Aliya Khurram, Sami Belhadj
Purpose:To explore the role of NBN as a pan-cancer susceptibility gene.Experimental Design:Matched germline and somatic DNA samples from 34,046 patients were sequenced using Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200403439bb586cbeb17c3f2103efbec
https://doi.org/10.1158/1078-0432.c.6532968
https://doi.org/10.1158/1078-0432.c.6532968
Autor:
Kenneth Offit, Joseph Vijai, Elisa de Stanchina, Barry S. Taylor, Jonathan E. Rosenberg, Dean F. Bajorin, Michael F. Berger, David B. Solit, Semanti Mukherjee, Steven M. Lipkin, Gopa Iyer, Charles M. Rudin, Ouathek Ouerfelli, Helena Furberg, Mogens Winkel Madsen, Chaitanya Bandlamudi, Yelena Kemel, Kaitlyn Tkachuk, Vignesh Ravichandran, Zoe Steinsnyder, Sabine Topka
Supplementary Tables S2-S5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3458e65307ebd8def100735c379f2d9c
https://doi.org/10.1158/1078-0432.22483661
https://doi.org/10.1158/1078-0432.22483661
Autor:
Kenneth Offit, Joseph Vijai, Elisa de Stanchina, Barry S. Taylor, Jonathan E. Rosenberg, Dean F. Bajorin, Michael F. Berger, David B. Solit, Semanti Mukherjee, Steven M. Lipkin, Gopa Iyer, Charles M. Rudin, Ouathek Ouerfelli, Helena Furberg, Mogens Winkel Madsen, Chaitanya Bandlamudi, Yelena Kemel, Kaitlyn Tkachuk, Vignesh Ravichandran, Zoe Steinsnyder, Sabine Topka
Supplementary Methods, Supplementary Figures S1-S11, Supplementary Tables S1, S6, S8-11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::294a79ae415a08b5a67bd31b76b28290
https://doi.org/10.1158/1078-0432.22483667
https://doi.org/10.1158/1078-0432.22483667
Autor:
Kenneth Offit, Joseph Vijai, Elisa de Stanchina, Barry S. Taylor, Jonathan E. Rosenberg, Dean F. Bajorin, Michael F. Berger, David B. Solit, Semanti Mukherjee, Steven M. Lipkin, Gopa Iyer, Charles M. Rudin, Ouathek Ouerfelli, Helena Furberg, Mogens Winkel Madsen, Chaitanya Bandlamudi, Yelena Kemel, Kaitlyn Tkachuk, Vignesh Ravichandran, Zoe Steinsnyder, Sabine Topka
Supplementary Table S7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c0f3472bda8c7cc1dae519a19d44a82
https://doi.org/10.1158/1078-0432.22483664
https://doi.org/10.1158/1078-0432.22483664