Zobrazeno 1 - 10 of 1 227 pro vyhledávání: '"L. Nathanson"'
1
Akademický článek
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity
Autor: Ryan D. Chow, Katherine L. Nathanson, Ravi B. Parikh
Publikováno v: npj Precision Oncology, Vol 8, Iss 1, Pp 1-7 (2024)
Abstract Deep learning models for predicting variant pathogenicity have not been thoroughly evaluated on real-world clinical phenotypes. Here, we apply state-of-the-art pathogenicity prediction models to hereditary breast cancer gene variants in UK B
Externí odkaz: https://doaj.org/article/6b81794c36b84ea9a37372ef28d22623
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2
Akademický článek
Protocol for a type 3 hybrid implementation cluster randomized clinical trial to evaluate the effect of patient and clinician nudges to advance the use of genomic medicine across a diverse health system
Autor: Anna C. Raper, Benita L. Weathers, Theodore G. Drivas, Colin A. Ellis, Colleen Morse Kripke, Randall A. Oyer, Anjali T. Owens, Anurag Verma, Paul E. Wileyto, Colin C. Wollack, Wenting Zhou, Marylyn D. Ritchie, Robert A. Schnoll, Katherine L. Nathanson
Publikováno v: Implementation Science, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background Germline genetic testing is recommended for an increasing number of conditions with underlying genetic etiologies, the results of which impact medical management. However, genetic testing is underutilized in clinics due to system,
Externí odkaz: https://doaj.org/article/74eb2115f4614d7abd18eefde9e0794d
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3
Akademický článek
Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions
Autor: Lillian Phung, Elisabeth Wood, Brian Egleston, Lily Hoffman-Andrews, Demetrios Ofidis, Sarah Howe, Rajia Mim, Hannah Griffin, Dominique Fetzer, Anjali Owens, Susan Domchek, Reed Pyeritz, Bryson Katona, Staci Kallish, Giorgio Sirugo, JoEllen Weaver, Katherine L. Nathanson, Daniel J. Rader, Angela R. Bradbury
Publikováno v: HGG Advances, Vol 5, Iss 4, Pp 100346- (2024)
Summary: Research participants report interest in receiving genetic research results. How best to return results remains unclear. In this randomized pilot study, we sought to assess the feasibility of returning actionable research results through a t
Externí odkaz: https://doaj.org/article/edde831edd684ca4b063e29b4c08d9d3
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4
Akademický článek
A comprehensive characterisation of phaeochromocytoma and paraganglioma tumours through histone protein profiling, DNA methylation and transcriptomic analysis genome wide
Autor: Prodromos Chatzikyriakou, Dimitria Brempou, Mark Quinn, Lauren Fishbein, Roberta Noberini, Ioannis N. Anastopoulos, Nicola Tufton, Eugenie S. Lim, Rupert Obholzer, Johnathan G. Hubbard, Mufaddal Moonim, Tiziana Bonaldi, Katherine L. Nathanson, Louise Izatt, Rebecca J. Oakey
Publikováno v: Clinical Epigenetics, Vol 15, Iss 1, Pp 1-16 (2023)
Abstract Background Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours. Pathogenic variants have been identified in more than 15 susceptibility genes; associated tumours are grouped into three Clusters, reinforced by their
Externí odkaz: https://doaj.org/article/66cb18fe933b4376a23415ba736e406b
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6
Akademický článek
Using the Translational Science Benefits Model to assess the impact of the Penn Implementation Science Center in Cancer Control
Autor: Robert Schnoll, Justin E. Bekelman, Daniel Blumenthal, David A. Asch, Alison M. Buttenheim, Krisda H. Chaiyachati, Susan M. Domchek, Oluwadamilola M. Fayanju, Peter Gabriel, Brian P. Jenssen, Frank T. Leone, Anne Marie McCarthy, Katherine L. Nathanson, Ravi B. Parikh, Katharine A. Rendle, Rachel C. Shelton, Lawrence N. Shulman, Samuel U. Takvorian, Susan Ware, E. Paul Wileyto, Rinad S. Beidas
Publikováno v: Journal of Clinical and Translational Science, Vol 8 (2024)
Traditional approaches for evaluating the impact of scientific research – mainly scholarship (i.e., publications, presentations) and grant funding – fail to capture the full extent of contributions that come from larger scientific initiatives. Th
Externí odkaz: https://doaj.org/article/28e1c778aebb48eca09592f466d027dc
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7
Akademický článek
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers
Autor: Jennifer B. Shah, Dana Pueschl, Bradley Wubbenhorst, Mengyao Fan, John Pluta, Kurt D’Andrea, Anna P. Hubert, Jake S. Shilan, Wenting Zhou, Adam A. Kraya, Alba Llop Guevara, Catherine Ruan, Violeta Serra, Judith Balmaña, Michael Feldman, Pat J. Morin, Anupma Nayak, Kara N. Maxwell, Susan M. Domchek, Katherine L. Nathanson
Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)
Carriers of pathogenic BRCA1/2 variants have a higher risk of breast and ovarian cancers, which recur frequently. Here, the authors sequence primary and recurrent tumours of BRCA1/2 mutation carriers, finding PARP1 amplifications, differential BRCA2
Externí odkaz: https://doaj.org/article/86e2b8acb27543e9aad8ac4d1b5b8463
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8
Akademický článek
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Autor: Christopher Hakkaart, John F. Pearson, Louise Marquart, Joe Dennis, George A. R. Wiggins, Daniel R. Barnes, Bridget A. Robinson, Peter D. Mace, Kristiina Aittomäki, Irene L. Andrulis, Banu K. Arun, Jacopo Azzollini, Judith Balmaña, Rosa B. Barkardottir, Sami Belhadj, Lieke Berger, Marinus J. Blok, Susanne E. Boonen, Julika Borde, Angela R. Bradbury, Joan Brunet, Saundra S. Buys, Maria A. Caligo, Ian Campbell, Wendy K. Chung, Kathleen B. M. Claes, GEMO Study Collaborators, EMBRACE Collaborators, Marie-Agnès Collonge-Rame, Jackie Cook, Casey Cosgrove, Fergus J. Couch, Mary B. Daly, Sita Dandiker, Rosemarie Davidson, Miguel de la Hoya, Robin de Putter, Capucine Delnatte, Mallika Dhawan, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Alan Donaldson, Jacqueline Eason, Douglas F. Easton, Hans Ehrencrona, Christoph Engel, D. Gareth Evans, Ulrike Faust, Lidia Feliubadaló, Florentia Fostira, Eitan Friedman, Megan Frone, Debra Frost, Judy Garber, Simon A. Gayther, Andrea Gehrig, Paul Gesta, Andrew K. Godwin, David E. Goldgar, Mark H. Greene, Eric Hahnen, Christopher R. Hake, Ute Hamann, Thomas V. O. Hansen, Jan Hauke, Julia Hentschel, Natalie Herold, Ellen Honisch, Peter J. Hulick, Evgeny N. Imyanitov, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul A. James, Ramunas Janavicius, Esther M. John, Vijai Joseph, Beth Y. Karlan, Zoe Kemp, Judy Kirk, Irene Konstantopoulou, Marco Koudijs, Ava Kwong, Yael Laitman, Fiona Lalloo, Christine Lasset, Charlotte Lautrup, Conxi Lazaro, Clémentine Legrand, Goska Leslie, Fabienne Lesueur, Phuong L. Mai, Siranoush Manoukian, Véronique Mari, John W. M. Martens, Lesley McGuffog, Noura Mebirouk, Alfons Meindl, Austin Miller, Marco Montagna, Lidia Moserle, Emmanuelle Mouret-Fourme, Hannah Musgrave, Sophie Nambot, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Joanne Ngeow Yuen Yie, Tu Nguyen-Dumont, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I. Olopade, Ana Osorio, Claus-Eric Ott, Sue K. Park, Michael T. Parsons, Inge Sokilde Pedersen, Ana Peixoto, Pedro Perez-Segura, Paolo Peterlongo, Timea Pocza, Paolo Radice, Juliane Ramser, Johanna Rantala, Gustavo C. Rodriguez, Karina Rønlund, Efraim H. Rosenberg, Maria Rossing, Rita K. Schmutzler, Payal D. Shah, Saba Sharif, Priyanka Sharma, Lucy E. Side, Jacques Simard, Christian F. Singer, Katie Snape, Doris Steinemann, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R. Teixeira, Soo Hwang Teo, Mads Thomassen, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Alison H. Trainer, Vishakha Tripathi, Nadine Tung, Klaartje van Engelen, Elizabeth J. van Rensburg, Ana Vega, Alessandra Viel, Lisa Walker, Jeffrey N. Weitzel, Marike R. Wevers, Georgia Chenevix-Trench, Amanda B. Spurdle, Antonis C. Antoniou, Logan C. Walker
Publikováno v: Communications Biology, Vol 5, Iss 1, Pp 1-15 (2022)
The risk of germline copy number variants (CNVs) in BRCA1 and BRCA2 pathogenic variant carriers in breast cancer is assessed, with CNVs overlapping SULT1A1 decreasing breast cancer risk in BRCA1 carriers.
Externí odkaz: https://doaj.org/article/2008d12983b5437282b0bdff8c8a6bb0
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