Results 81 to 90 of about 44,419 (235)
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron +11 morewiley +1 more sourceNext‐Generation Surgery: Integrating Artificial Intelligence, Genetic Technologies, Bioengineering and Rehabilitation Into Modern Practices
Exploration, EarlyView.This graphic abstract depicts the convergence of artificial intelligence, genetic technologies, bioengineering, and rehabilitation as the core pillars of next‐generation surgery. These domains collectively enhance preoperative planning, intraoperative precision, tissue reconstruction, and postoperative recovery, driving a paradigm shift toward ...Dengxiong Li, Jie Wang, Zhipeng Wang, Ruicheng Wu, Zhouting Tuo, Fanglin Shao, Wenjing Ge, Ziyu Shu, Yubo Yang, Dilinaer Wusiman, Qingxin Yu, Luxia Ye, Alisha Pati‐Alam, Facai Zhang, Koo Han Yoo, Susan Heavey, William C. Cho, Dechao Feng +17 morewiley +1 more sourceImproving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics
International Journal of Cancer, EarlyView.Abstract
Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink +11 morewiley +1 more sourceBRCA2 gene mutations and coagulation-associated biomarkers
, 2015 Thromboembolic events are the second cause of death in cancer patients, although the mechanisms underlying this increased thromboembolic risk remain unclear.Pérez Segura, Pedro, Zamorano León, José Javier, Acosta, Daniel, Lahera Julia, Vicente, Rico Zalba, Luis, López Farre, Antonio José, Caldés, Trinidad, Díaz Millán, Isabel, Santos Sancho, Juana María, de la Hoya, Miguel, Díaz-Rubio García, Eduardo, Heras Jiménez, Natalia De Las, Modrego, Javier, Melander, Olle +13 morecore +1 more sourceTumor Infiltrating Lymphocyte Therapy Combined With PD‐1/LAG‐3 Inhibition in Patients With Recurrent Platinum‐Resistant Ovarian Cancer
International Journal of Cancer, EarlyView.The detection of tumor‐infiltrating lymphocytes (TILs) is a positive prognostic factor in ovarian cancer. Moreover, TILs are significantly boosted by immunotherapy, though ovarian cancer patients have seen limited benefit from immune therapies. This study investigated the safety and feasibility of TIL therapy combined with PD‐1 and LAG‐3 inhibitors in ...Tine J. Monberg, Cathrine L. Lorentzen, Marie C. W. Westergaard, Trine Z. Iversen, Troels H. Borch, Marco Donia, Sigrid M. Mannering, Stine E. W. Banke, Özcan Met, Inge Marie Svane +9 morewiley +1 more sourceSkp2 Overexpression Is Associated with Loss of BRCA2 Protein in Human Prostate Cancer [PDF]
The American Journal of Pathology, 2011 BRCA2 (breast cancer 2, early onset) is a tumor suppressor gene that confers increased susceptibility for prostate cancer (PCa). Previous in vitro experiments demonstrated that Skp2, an E3 ubiquitin ligase aberrantly overexpressed in PCa, is involved in the proteolytic degradation of BRCA2 in PCa cells, suggesting that the BRCA2-Skp2 interaction may ...Arbini AA, Greco M, Yao JL, Bourne P, Marra E, Hsieh JT, di Sant'agnese PA, Moro L +7 moreopenaire +4 more sourcesPancreatic Cancer Early Detection Biomarkers for High‐Risk Individuals: Insights From the PRECEDE Consortium
International Journal of Cancer, EarlyView.ABSTRACT
Pancreatic ductal adenocarcinoma (PDAC) remains one of the deadliest cancers due to its asymptomatic progression, late‐stage diagnosis, and treatment resistance. Efforts in early detection have centered on identifying imaging features and liquid biopsy biomarkers capable of detecting PDAC and its high‐grade precursors before clinical symptoms ...Christine Worthington, Maria Raitses‐Gurevich, Giulio Innamorati, Phil A. Hart, Thomas M. Wilkie, Noam Tau, Dana Brin, Doron Yablecovitch, Ido Laish, Dove Keith, Kurt Giles, Jennifer B. Permuth, Diane M. Simeone, George Zogopoulos, Randall E. Brand, John J. Graff, Julie Earl, On behalf of the PRECEDE Consortium, Nikhil Agarwal, Laufey Amundadottir, Michelle Anderson, Ajay Bansal, Todd Bauer, Georg Beyer, Yan Bi, Erkut Borazanci, Randy Brand, Teri Brentnall, Carol Burke, Darren Carpizo, Saurabh Chawla, Daniel Chung, Sourat Darabi, Michael Demeure, Timothy Donahue, Julie Earl, Whitney Espinel, James Farrell, Vigdís Fjóla Stefánsdóttir, Jared Forrester, Eitan Friedman, Paul Franklin, Srinivas Gaddam, Ana García García de Paredes, Steven Gallinger, Talia Golan, Ora Gordon, Robert Grant, William Greenhalf, Eli Marie Grindedal, Aaron Grossberg, Brenda Hafers, Heather Hannon, Sigurdís Haraldsdóttir, Stefán Haraldsson, Peter Hegyi, Melissa Hogg, Amy de Haar‐Holleman, Susan Hong, Greg Idos, Edward Kim, Fay Kastrinos, Bryson Katona, Vivek Kaul, Derk Klatte, Kelsey Klute, Kimberly Ku, Sonia Kupfer, Rich Kwon, Rosario Ligresti, James James Lin, Wei‐Chih (David) Liao, Aimee Lucas, Nipun Merchant, Andrew Metz, Whitney Maxwell, James McLoughlin, Sodech Miclette, Xavier Molero, Leticia Moreira, Takuji Okusaka Chigusa Morizane, Joanne Ngeow, Salvatore Paiella, Jennifer Permuth, Maricel Purcell, Joshua Raff, Vineet Rolston, Intan Schrader, Rosie Sears, Yan‐Shen Shan, Diane Simeone, Jens Siveke, Brett Sheppard, Tyler Stevens, Elena Stoffel, Dan Sussman, Margaret Tempero, Jose Trevino, Jennifer Valerin, Eva Vaquero, Ray Wadlow, Garrett Ward, David Weinberg, Ronald Wolf, Dana Zakalik, George Zogopoulos +105 morewiley +1 more sourceClinical Implementation and Oncological Relevance of Molecular Profiling in Brain Metastases Patients—A Multicenter Retrospective Cohort Study
International Journal of Cancer, EarlyView.While current guidelines recommend the analysis of established cancer driver genes in brain metastases, little is known about its real‐life implementation. This multicenter study revealed an upward trend in the profiling rates of surgically treated brain metastases over the past decade, with up to 60% of brain metastases samples undergoing analysis ...Maria Nikolaeva, Jacopo Bellomo, Meltem Gönel, Vittorio Stumpo, Victor Egon Staartjes, Flavio Vasella, Kevin Akeret, André Sagerer, Anna Maria Zeitlberger, David Wasilewski, Christopher Krämer, Sven König, Julia Onken, Tareq Juratli, Alexander Köpp, Regina Reimann, Marcus Czabanka, Peter Vajkoczy, Ilker Y. Eyüpoglu, Oliver Bozinov, Michael Weller, Emilie Le Rhun, Luca Regli, Carlo Serra, Marian C. Neidert, Stefanos Voglis +25 morewiley +1 more source