Publications by authors named "Joey Mark S Diaz"
Article Synopsis
- * The WNT/β-catenin pathway is significantly affected by G9a abnormalities, as G9a suppresses the WNT antagonist DKK1, contributing to tumor development.
- * Targeting mutated or amplified G9a could be an effective therapeutic strategy, as studies show it can promote a more immune-responsive "hot" tumor environment in melanoma and other cancers.
Purpose: Previously identified transcriptomic signatures have been based on primary and metastatic melanomas with relatively few American Joint Committee on Cancer (AJCC) stage I tumors, given difficulties in sampling small tumors. The advent of adjuvant therapies has highlighted the need for better prognostic and predictive biomarkers, especially for AJCC stage I and stage II disease.
Experimental Design: A total of 687 primary melanoma transcriptomes were generated from the Leeds Melanoma Cohort (LMC).
Systematic tumour profiling is essential for biomarker research and clinically for assessing response to therapy. Solving the challenge of delivering informative copy number (CN) profiles from formalin-fixed paraffin embedded (FFPE) material, the only likely readily available biospecimen for most cancers, involves successful processing of small quantities of degraded DNA. To investigate the potential for analysis of such lesions, whole-genome CNVseq was applied to 300 FFPE primary tumour samples, obtained from a large-scale epidemiological study of melanoma.
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- The study investigates genetic and environmental factors influencing the immune response in a large group of melanoma patients, revealing three immune signal subgroups: low, intermediate, and high.
- Bioinformatic analysis of tumor samples showed that high immune signal tumors are linked to specific pathways, while low immune signal tumors are associated with cell-cycle and metabolism pathways.
- The research also highlights how factors like MYC gene expression and cigarette smoking can suppress immune responses, ultimately impacting patient survival and response to immunotherapy.
Purpose: Circulating cell-free tumor DNA (ctDNA) reflects the heterogeneous spectrum of tumor-specific mutations, especially in systemic disease. We validated plasma-based assays that allow the dynamic quantitative detection of ctDNA as a prognostic biomarker for tumor load and prediction of therapy response in melanoma.
Materials And Methods: We analyzed plasma-derived ctDNA from a large training cohort (n = 96) of patients with advanced-stage melanoma, with assays for the and driver mutations as well as and promoter mutations.