Zobrazeno 1 - 10
of 2 772
pro vyhledávání: '"MISMATCH REPAIR-DEFICIENCY"'
Autor:
Xuchen Zhang, Huiyun Wang, Yi Li, Weihua Yan, Yunqing Chen, Shanai Song, Ning Liu, Chuantao Zhang, Zhaojian Niu, Helei Hou
Publikováno v:
World Journal of Surgical Oncology, Vol 22, Iss 1, Pp 1-11 (2024)
Abstract Background Currently, PD-(L)1 blockade-based neoadjuvant treatment has shown promising outcomes in patients with potentially resectable gastric cancer. In this real-world study, we aimed to retrospectively observe the efficacy including tumo
Externí odkaz:
https://doaj.org/article/67011b2a7acc4f22a63b6df6b3c7d6e2
Publikováno v:
Cancer Imaging, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background Identifying DNA mismatch repair deficiency (MMRd) is important for prognosis risk stratification in patients with early-stage endometrial cancer (EC), but there is a notable absence of cost-effective and non-invasive preoperative
Externí odkaz:
https://doaj.org/article/9ab5a152abca4b13a88efa98a85cd429
Autor:
Milena Massumi Kozonoe, Jacqueline Justino Nabhen, Bruno Ribeiro Batista, Lucas Novello, Edenir Inêz Palmero, Sérgio Ossamu Ioshii, Júlia Costa Linhares
Publikováno v:
Surgical and Experimental Pathology, Vol 7, Iss 1, Pp 1-8 (2024)
Abstract Background Since the FDA approved immune-enhancing therapies for patients with high microsatellite instability (MSI-H) and/or mismatch repair deficiency (dMMR), recognizing these biomarkers in solid tumors has gained clinical importance. Alt
Externí odkaz:
https://doaj.org/article/9289c3e5441b494d8d549ec524986eff
Autor:
Vincent Jonchère, Hugo Montémont, Enora Le Scanf, Aurélie Siret, Quentin Letourneur, Emmanuel Tubacher, Christophe Battail, Assane Fall, Karim Labreche, Victor Renault, Toky Ratovomanana, Olivier Buhard, Ariane Jolly, Philippe Le Rouzic, Cody Feys, Emmanuelle Despras, Habib Zouali, Rémy Nicolle, Pascale Cervera, Magali Svrcek, Pierre Bourgoin, Hélène Blanché, Anne Boland, Jérémie Lefèvre, Yann Parc, Mehdi Touat, Franck Bielle, Danielle Arzur, Gwennina Cueff, Catherine Le Jossic-Corcos, Gaël Quéré, Gwendal Dujardin, Marc Blondel, Cédric Le Maréchal, Romain Cohen, Thierry André, Florence Coulet, Pierre de la Grange, Aurélien de Reyniès, Jean-François Fléjou, Florence Renaud, Agusti Alentorn, Laurent Corcos, Jean-François Deleuze, Ada Collura, Alex Duval
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-26 (2024)
Abstract Background Microsatellite instability (MSI) due to mismatch repair deficiency (dMMR) is common in colorectal cancer (CRC). These cancers are associated with somatic coding events, but the noncoding pathophysiological impact of this genomic i
Externí odkaz:
https://doaj.org/article/87efc7be65b6480c8bf4509103a6aab4
Autor:
A.H. Mohammad, E. Rohr, A. Moise, R.M. Abdulsalam, W. Davalan, A. Rizzolo, A.S. Liberman, C. Goudie, L. Palma, W.D. Foulkes
Publikováno v:
ESMO Gastrointestinal Oncology, Vol 6, Iss , Pp 100111- (2024)
Background: Underdiagnosis of constitutional mismatch repair deficiency (CMMRD) syndrome leads to suboptimal cancer surveillance and management of CMMRD patients. Assessing pitfalls that led to the misdiagnosis of CMMRD is important to improve care t
Externí odkaz:
https://doaj.org/article/bf0562c5a0e147b782277326517a9c6a
Autor:
Anne-Sophie van der Werf't Lam, Noah C. Helderman, Arnoud Boot, Diantha Terlouw, Hans Morreau, Hailian Mei, Rebecca E.E. Esveldt-van Lange, Inge M.M. Lakeman, Christi J. van Asperen, Emmelien Aten, Nandy Hofland, Pia A.M. de Koning Gans, Emily Rayner, Carli Tops, Niels de Wind, Tom van Wezel, Maartje Nielsen
Publikováno v:
Experimental and Molecular Pathology, Vol 140, Iss , Pp 104940- (2024)
Functional analyses are the main method to classify mismatch repair (MMR) gene variants of uncertain significance (VUSs). However, the pathogenicity remains unclear for many variants because of conflicting results between clinical, molecular, and fun
Externí odkaz:
https://doaj.org/article/495ee08f0dc6450c81f1b9f564d08794
Publikováno v:
Urology Case Reports, Vol 57, Iss , Pp 102833- (2024)
Molecular tumor profiling has become an important diagnostic for prostate cancer, allowing for personalized treatment regimens based on somatic and germline genetic information. We report a 67-year-old patient with metastatic castrate-resistant prost
Externí odkaz:
https://doaj.org/article/3281b92e6b0448a390931203100678b9
Akademický článek
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Autor:
Marta Mendiola, Victoria Heredia-Soto, Ignacio Ruz-Caracuel, Amparo Baillo, Jorge Luis Ramon-Patino, Alberto Berjon, Francisco Javier Escudero, Alberto Pelaez-Garcia, Alicia Hernandez, Jaime Feliu, David Hardisson, Andres Redondo
Publikováno v:
Molecular and Cellular Probes, Vol 77, Iss , Pp 101976- (2024)
Context: DNA mismatch repair (MMR) deficiency (dMMR) testing is now recommended in endometrial cancer. Defect identification in the molecules participating in this pathway, or the presence of microsatellite instability, are commonly employed for this
Externí odkaz:
https://doaj.org/article/032e9f693ff646a88b8aa17f12b69d57
Autor:
Marta Nowak, Faiz Jabbar, Ann-Katrin Rodewald, Luciana Gneo, Tijana Tomasevic, Andrea Harkin, Tim Iveson, Mark Saunders, Rachel Kerr, Karin Oein, Noori Maka, Jennifer Hay, Joanne Edwards, Ian Tomlinson, Owen Sansom, Caroline Kelly, Francesco Pezzella, David Kerr, Alistair Easton, Enric Domingo, Viktor H. Koelzer, David N. Church, Bengt Glimelius, Ismail Gogenur, Emma Jaeger, Hannah Morgan, Clare Orange, Claire Palles, Campbell Roxburgh
Publikováno v:
Cell Reports Medicine, Vol 5, Iss 9, Pp 101727- (2024)
Summary: Testing for DNA mismatch repair deficiency (MMRd) is recommended for all colorectal cancers (CRCs). Automating this would enable precision medicine, particularly if providing information on etiology not captured by deep learning (DL) methods
Externí odkaz:
https://doaj.org/article/0addef455aaa46a896ad776bd6ad5c75