A single-center, cohort study of the mutational profile of Ukrainian patients with non-small cell lung cancer DOI Creative Commons
О. І. Vynnychenko, Yuliia Moskalenko, Roman Moskalenko

et al.

Український радіологічний та онкологічний журнал, Journal Year: 2024, Volume and Issue: 32(4), P. 504 - 517

Published: Dec. 3, 2024

Background. Lung cancer continues to be a significant health concern globally. Due the heterogeneity of disease, using innovative strategies for effective management and treatment patients is extremely important. Purpose – characterize mutational profile group non-small cell lung (NSCLC) utilizing next-generation sequencing technique. Materials Methods. A total 42 samples that were fixed in formalin embedded paraffin (FFPE) collected from Ukrainian diagnosed with who had surgery at Sumy Regional Clinical Oncology Center. DNA was extracted FFPE Omega Bio-tek E.Z.N.A.® Kit (USA) following manufacturerʼs instructions. Sequencing performed on Illumina NextSeq 550Dx platform 550 Mid-Output Kit. The Cancer Genome Atlas Program (TCGA) database (https://portal.gdc.cancer.gov/) used comparative analysis prevalence genomic mutations cohort Caucasian NSCLC. Statistical Stata V.18.0 software (StataCorp, Texas, USA; https://www.stata.com; 2024). paper belongs «description case series» category which type study recognized by evidence based medicine does not claim statistical significance result. Results. Among NSCLC samples, 11 (26.19%) carried driver such as EGFR (n=2; L858R), KRAS (n=7; G12C, G12D, G12A A146S), BRAF (n=1; V600E) translocation EML4(exon6) ALK (exon20) chr2:42503838 chr2:29447579). All mutually exclusive. No NRAS, ROS1, RET, MET, ERBB2, PIK3CA mutation cases detected. number never smoked significantly higher than former or current smokers (p=0.046). association found between age, sex, tumor stage, histology NSCLC, mutations. Conclusions. Molecular genetic profiling revealed 26.19% radically treated Most are oncogenic sensitive tyrosine kinase inhibitors.

Language: Английский

Incidentally Detected Ascending Thoracic Aortic Aneurysm and Bicuspid Aortic Valve DOI
Merlin G. Butler

JAMA, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 27, 2025

Language: Английский

Citations

0

Targeted Therapies for Slow‐Flow Vascular Malformations DOI Creative Commons
Grace X. Li, Deshan F. Sebaratnam, James P. Pham

et al.

Australasian Journal of Dermatology, Journal Year: 2025, Volume and Issue: unknown

Published: March 17, 2025

ABSTRACT Advances in genetic sequencing technologies have enabled the identification of key activating somatic variants cellular signalling pathways involved pathogenesis vascular malformations. Given that these are also implicated several cancers, repurposing targeted therapies developed oncology has been increasingly investigated for treating This review provides an update on current evidence slow‐flow malformations, particularly context gain‐of‐function PI3K/AKT/mTOR pathway.

Language: Английский

Citations

0

Neoantigen vaccines: advancing personalized cancer immunotherapy DOI Creative Commons
Alaa A. A. Aljabali,

Yassmen Hamzat,

Alaa Alqudah

et al.

Exploration of Immunology, Journal Year: 2025, Volume and Issue: 5

Published: April 8, 2025

Neoantigen vaccines are a promising strategy in cancer immunotherapy that leverage tumor-specific mutations to elicit targeted immune responses. Although they have considerable potential, development challenges related antigen prediction accuracy, manufacturing complexity, and scalability remain key obstacles their widespread clinical use. This literature review was conducted using PubMed, Scopus, Web of Science, Google Scholar databases identify relevant studies. Keywords included “neoantigen vaccines,” “personalized immunotherapy,” “tumor heterogeneity,” “bioinformatics pipelines,” “prediction algorithms”. Clinical trial data were sourced from ClinicalTrials.gov, Trialtrove, other publicly available registries. Eligible studies peer-reviewed research articles, systematic reviews, trials focusing on neoantigen vaccine development, bioinformatic strategies, immunotherapy. Tumor heterogeneity clonal evolution significantly impact efficacy, necessitating multi-epitope targeting adaptive design. Current algorithms suffer high false-positive false-negative rates, requiring further integration with multi-omics machine learning enhance accuracy. Manufacturing remains complex, time-intensive, costly, advancements standardization automation. Combination therapies, such as checkpoint inhibitors adoptive cell counteract the immunosuppressive tumor microenvironment, improving treatment outcomes. hold great potential for personalized therapy but require bioinformatics, scalability, immunomodulatory strategies efficacy. Continued interdisciplinary collaboration essential refining applications.

Language: Английский

Citations

0

Epigenetic Biomarkers in Alzheimer's Disease: Diagnostic and Prognostic Relevance DOI
Tapan Behl,

Ashishkumar Kyada,

R Roopashree

et al.

Ageing Research Reviews, Journal Year: 2024, Volume and Issue: 102, P. 102556 - 102556

Published: Oct. 30, 2024

Language: Английский

Citations

3

A biomarker identification model from protein protein interaction network using natural language processing and graph convolutional network DOI Open Access
Zannatul Ferdoush, Ziad Kobti

Procedia Computer Science, Journal Year: 2024, Volume and Issue: 246, P. 1548 - 1557

Published: Jan. 1, 2024

Language: Английский

Citations

1

Cancer genetics and treatment rift: Perspectives for coping challenges in low and middle-income countries DOI

Sonali Deore,

P. Deshpande,

Jitendra Bhawalkar

et al.

Current Problems in Cancer, Journal Year: 2024, Volume and Issue: 50, P. 101094 - 101094

Published: April 3, 2024

Language: Английский

Citations

0

Introduction to Prospectus of Application of Biotechnology and Genetic Tools in Research on Coldwater Fishes in the World DOI
Neetu Shahi

Published: Jan. 1, 2024

Biotechnology and genetic research in coldwater fishes have emerged as pivotal fields of study globally, aiming to unlock the vast potential these aquatic species. The utilization biotechnological tools, such engineering, selective breeding, genomic sequencing, has facilitated remarkable advancements understanding makeup, physiological traits, disease resistance mechanisms fish. These breakthroughs not only improved aquaculture practices but also contributed enhancing fish health, growth rates, nutritional quality. Moreover, application biotechnology extends environmental conservation, addressing challenges posed by climate change, habitat degradation, outbreaks. By deciphering resilience species, scientists aim develop strategies for preserving biodiversity, restoring ecosystems, ensuring sustainable fisheries management. However, ethical considerations, regulatory frameworks, public perceptions remain significant factors influencing implementation research. Balancing scientific innovation with standards societal concerns is essential navigate complex landscape manipulation interventions. Looking ahead, future holds promise further productivity, food security, conserving fragile ecosystems. Collaborative efforts among scientists, policymakers, industry stakeholders, communities are imperative harness full while ethical, environmental, implications development resources worldwide.

Language: Английский

Citations

0

Genome-wide discovery and prediction of microRNA-based biomarkers in head and neck squamous cell carcinoma DOI

Sayantika Das,

Arya J. Mohan,

Muskan Talreja

et al.

Elsevier eBooks, Journal Year: 2024, Volume and Issue: unknown, P. 157 - 181

Published: Jan. 1, 2024

Language: Английский

Citations

0

The current era of AyurGenomics and AyurProteomics DOI
Heena Saini, Richa Tripathi

Ayush journal of integrative oncology., Journal Year: 2024, Volume and Issue: 1(1&2), P. 10 - 12

Published: Jan. 1, 2024

Abstract Background: Ayurveda, traditionally known as “The Science of Life,” has been practiced in India for centuries, focusing on holistic well-being. Despite its longstanding application, Ayurveda faced challenges gaining scientific acceptance globally, primarily due to the absence standardized drug testing and certification. Objective: This study explores recent initiatives by Indian government globalize integrating modern molecular biology techniques high-throughput technologies provide a foundation Ayurvedic practices. Methods: The research examines integration genomics proteomics with giving rise Ayurgenomics Ayurproteomics. These emerging fields aim elucidate mechanisms underlying practices, leveraging contemporary tools. Results: interdisciplinary approach seeks generate evidence-based data diagnostics therapeutics, explore pharmacokinetics pharmacodynamics, ensure safety efficacy medicines. Additionally, highlights need validation, ethical guidelines, collaboration between traditional practitioners scientists. Conclusion: Integrating like potential validate practices lead development personalized medicine. Overcoming validation promoting collaborative are key success Ayurproteomics healthcare.

Language: Английский

Citations

0

Cardiac channelopathies in pediatrics: a genetic update DOI
Estefanía Martinez-Barrios, Óscar Campuzano, Andrea Greco

et al.

European Journal of Pediatrics, Journal Year: 2024, Volume and Issue: 183(11), P. 4635 - 4640

Published: Sept. 23, 2024

Language: Английский

Citations

0