Results 41 to 50 of about 29,309 (251)

DNA Mismatch Repair Proteins and BRAF V600E Detection by Immunohistochemistry in Colorectal Cancer Demonstrates Concordance with Next Generation Sequencing

Journal of Molecular Pathology, 2022
Background and Aims: Multiple laboratory methods are used to screen patients with colorectal cancer (CRC) for mismatch repair (MMR) protein deficiency to identify possible Lynch syndrome patients.
Joel Yambert, Leigh A. Henricksen, June Clements, Andrew Hannon, Alyssa Jordan, Shalini Singh, Katerina Dvorak, Colin C. Pritchard, Eric Q. Konnick   +8 more
doaj   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source

Case Report: Malignant Brain Tumors in Siblings With MSH6 Mutations

Frontiers in Oncology, 2022
BackgroundFamilial brain tumor incidences are low. Identifying the genetic alterations of familial brain tumors can help better understand the pathogenesis and make therapy regimens for these tumors.Case PresentationAn elder female and a younger male ...
Di Wu, Qingshan Chen, Jian Chen, Jian Chen   +3 more
doaj   +1 more source

Bridging the Gap in Neuroblastoma Care: Consensus‐Based Statements With Recommendations for Improved Patient and Caregiver Experiences

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Neuroblastoma's complex, heterogeneous biology poses significant diagnostic and therapeutic challenges, often requiring caregivers to absorb complex information and participate in time‐sensitive decisions. However, caregivers often feel unprepared to evaluate options.
Vickie Buenger, Joseph Bauer, Jennifer Diamond, Maggie Fader, Shae Hansen, Jacqueline M. Kraveka, Johanna Schoen, Amber Shearer, Dena Sherwood   +8 more
wiley   +1 more source

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

Prevalence and clinicopathological correlates of MSI/dMMR in colorectal cancer: a prospective multicenter registry study from Russia

Frontiers in Oncology
BackgroundMicrosatellite instability/mismatch repair deficiency are well-established predictive biomarkers for immune checkpoint inhibitor therapy and are used to identify candidates for Lynch syndrome screening in colorectal cancer.
Dmitrii Semenov, Sergey Achkasov, Natalya Bodunova, Ashot Avdalyan, Alexey Barinov, Anzhelika Chegodar, Ilya Chernikovskiy, Nikita Chizhikov, Mikhail Danilov, Irina Demidova, Vladislav Dmitriev, Dmitry Erygin, Mikhail Fedyanin, Mikhail Fedyanin, Mikhail Fedyanin, Vsevolod Galkin, Daria Ivanilova, Dmitriy Kanner, Nikolay Karnaukhov, Oleg Karpov, Igor Khatkov, Dina Kolesnikova, Ekaterina Kotova, Olga Maynovskaia, Oleg Penzin, Dmitry Pikunov, Andrey Pulin, Nikita Savelov, Anna Semenova, Vitaly Shatalov, Vitaly Shubin, Ilya Sklyar, Oleg Yudin, Evgeniy Zakurdaev, Ilya Pokataev, Alexey Tsukanov   +35 more
doaj   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

Testing for deficient mismatch repair and microsatellite instability

Die Pathologie, 2023
AbstractTesting to detect mismatch repair deficiency (dMMR) and high-grade microsatellite instability (MSI-H) has become an integral part of the routine diagnostic workup for colorectal cancer (CRC). While MSI was initially considered to be a possible indicator of a hereditary disposition to cancer (Lynch syndrome, LS), today the prediction of the ...
Rüschoff, Josef, Schildhaus, Hans-Ulrich, Rüschoff, Jan Hendrik, Jöhrens, Korinna, Bocker Edmonston, Tina, Dietmaier, Wolfgang, Bläker, Hendrik, Baretton, Gustavo, Horst, David, Dietel, Manfred, Hartmann, Arndt, Klauschen, Frederick, Merkelbach-Bruse, Sabine, Stenzinger, Albrecht, Schöniger, Sandra, Tiemann, Markus, Weichert, Wilko, Büttner, Reinhard   +17 more
openaire   +2 more sources

Longitudinal genome‐wide aneuploidy measurements in circulating cell‐free DNA to predict lack of benefit from pembrolizumab in patients with metastatic urothelial cancer

Molecular Oncology, EarlyView.
Many patients with urothelial cancer do not benefit from treatment with pembrolizumab, while at risk of severe side effects. Changes in the levels of circulating tumor DNA early during treatment, measured by a simple and affordable assay that can be easily implemented in the clinic, can be used as a prognostic tool to identify these patients.
Youssra Salhi, Stavros Makrodimitris, Sandra van Wilpe, Iris te Paske, Vanja de Weerd, Corine M. Beaufort, Hans M. Westgeest, Jens Voortman, Maureen J. B. Aarts, Maud Rijnders, Astrid A. M. van der Veldt, Ronald de Wit, Niven Mehra, Saskia M. Wilting, Debbie G. J. Robbrecht   +14 more
wiley   +1 more source