Results 41 to 50 of about 1,149,362 (252)

Biallelic Mismatch Repair Deficiency in Children and Adolescents: A Review of Published and Unpublished Data from India—Need for an Indian Consortium

Indian Journal of Medical and Paediatric Oncology
Introduction Biallelic mismatch repair deficiency or constitutional mismatch repair deficiency (CMMRD) is a rare and aggressive pediatric cancer predisposition syndrome that occurs as a result of homozygous (biallelic) pathogenic variants in ...
Gazel Sainulabdin, Purva Kanvinde, Ritika Khurana, Sangeeta Mudaliar, Vasudeva Bhat K, Anju Shukla, V. P. Krishnan, Yamini Krishnan   +7 more
doaj   +1 more source

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

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 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

‘Guide and Prejudice’— How Argonautes recognize targets across domains of life

FEBS Letters, EarlyView.
Argonaute proteins use short nucleic‐acid guides to locate and regulate specific targets across all domains of life. Despite striking diversity—from human gene silencing to bacterial immune defence—all Argonautes share a conserved three‐stage recognition logic: guide‐directed sampling, progressive target pairing with a conformational checkpoint and ...
Jack P. K. Bravo
wiley   +1 more source

Membrane composition and thermodynamic identity as boundaries of life for synthetic cell research

FEBS Letters, EarlyView.
What makes a cell a cell? The boundary of a living cell is not just a wall. Read as a Markov blanket, the membrane separates internal from external states, generating identity and non‐equilibrium order. Can this identity be rebuilt from scratch in a synthetic cell?
Caterina Presutti, Bert Poolman
wiley   +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

Epigenetic heterogeneity and plasticity in therapy‐induced tumor states through single‐cell multi‐omics

Molecular Oncology, EarlyView.
Single‐cell multi‐omics reveals epigenetic heterogeneity across therapy‐adaptive tumor states, including quiescent/dormant, drug‐tolerant persister, and EMT‐like phenotypes. By linking regulatory features with state‐associated biomarkers, these approaches inform biomarker‐guided therapeutic strategies for evolving tumors.
Hee Jung Kim, Hwiyeong Lee, Jin Hong, Daechan Park   +3 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

Profiling neoadjuvant therapy response in rectal cancer using meta‐analysis of publicly available transcriptomic RNA‐seq datasets

Molecular Oncology, EarlyView.
This study integrates publicly available transcriptomic datasets to identify molecular signatures associated with response to neoadjuvant chemoradiotherapy in locally advanced rectal cancer. By analyzing a combination of multiple cohorts with bioinformatics approaches, we reveal biological pathways and immune‐related features that may improve ...
Aleksandra Stanojevic, Rafael Stroggilos, Mladen Marinkovic, Ana Djuric, Suzana Stojanovic‐Rundic, Radmila Jankovic, Sergi Castellvi‐Bel, Remond J.A. Fijneman, Antonia Vlahou, Jerome Zoidakis, Milena Cavic   +10 more
wiley   +1 more source