A5020592939- Bladder and Urothelial Cancer Treatments
- Urinary and Genital Oncology Studies
- Epigenetics and DNA Methylation
- Ferroptosis and cancer prognosis
- Fibroblast Growth Factor Research
- Metastasis and carcinoma case studies
- Renal cell carcinoma treatment
- Esophageal Cancer Research and Treatment
- Cancer Genomics and Diagnostics
- Cancer Research and Treatments
- Ovarian cancer diagnosis and treatment
- Cancer, Lipids, and Metabolism
- Genomics and Phylogenetic Studies
- PI3K/AKT/mTOR signaling in cancer
- Telomeres, Telomerase, and Senescence
- Viral-associated cancers and disorders
- Genetic factors in colorectal cancer
- Mast cells and histamine
- Genetically Modified Organisms Research
- Genomic variations and chromosomal abnormalities
- Eosinophilic Disorders and Syndromes
- Diet, Metabolism, and Disease
- Molecular Biology Techniques and Applications
- DNA Repair Mechanisms
- Heat shock proteins research
St James's University Hospital
2014-2023
University of Leeds
2013-2023
Cancer Research UK
2003-2013
University of Greenwich
1997-2000
Swansea University
1995
FGF receptor 3 (FGFR3) is activated by mutation or over-expression in many bladder cancers. Here, we identify an additional mechanism of activation via chromosomal re-arrangement to generate constitutively fusion genes. FGFR3-transforming acid coiled coil (TACC3) fusions resulting from 4p16.3 re-arrangements and a t(4;7) that generates FGFR3-BAI1-associated protein 2-like 1 (BAIAP2L1) were identified 4 43 tumour cell lines 2 32 selected tissue samples including the which one was derived....
Abstract The molecular landscape in non-muscle-invasive bladder cancer (NMIBC) is characterized by large biological heterogeneity with variable clinical outcomes. Here, we perform an integrative multi-omics analysis of patients diagnosed NMIBC ( n = 834). Transcriptomic identifies four classes (1, 2a, 2b and 3) reflecting tumor biology disease aggressiveness. Both transcriptome-based subtyping the level chromosomal instability provide independent prognostic value beyond established...
Abstract Purpose: The phosphatidylinositol 3-kinase (PI3K) pathway can be activated by alterations affecting several components. For rational application of targeted therapies, detailed understanding tumor biology and approaches to predict efficacy in individual tumors are required. Our aim was assess the frequency distribution bladder cancer. Experimental Design: We examined components (PIK3CA, PTEN, TSC1, RHEB, LKB1) putative upstream regulators (FGFR3 RAS genes) for mutation, allelic...
Abstract Purpose: Clinically useful molecular markers predicting the clinical course of patients diagnosed with non–muscle-invasive bladder cancer are needed to improve treatment outcome. Here, we validated four previously reported gene expression signatures for diagnosis disease stage and carcinoma in situ (CIS) recurrence progression. Experimental Design: We analyzed tumors from 404 hospitals Denmark, Sweden, England, Spain, France using custom microarrays. Molecular classifications were...
There is a need for improved subclassification of urothelial carcinoma (UC) at diagnosis. A major aim this study was to search novel genomic subgroups.We assessed 160 tumors genome-wide copy number alterations and mutation in genes implicated UC. These comprised all tumor grades stages included 49 high-grade stage T1 (T1G3) tumors.Our findings point the existence subclasses "gold-standard" grade/stage groups. The T1G3 separated into 3 subgroups that differed with respect type events FGFR3...
Activating mutations in the PIK3CA gene have been identified a variety of human malignancies and are commonly detected hotspot codons located helical kinase domains exons 9 20. Existing methodologies for detection time-consuming and/or expensive. In present study we describe first application SNaPshot assay to screening frequent these exons.A simultaneous four (E542K, E545G, E545K H1047R) has developed evaluated. The combines multiplex PCR amplification with primer extension allow targeted...
Recently a number of randomized trials have shown that patients with advanced colorectal cancer do not benefit from therapies targeting the epidermal growth factor receptor when their tumors harbor mutations in KRAS, BRAF and PIK3CA genes. We developed two multiplex assays simultaneously screen 22 nucleotides NRAS, genes for mutations. The were validated on 294 tumor DNA samples cancer. In these 119 KRAS codon 12 13 had been identified by sequence analysis, 126 wild-type analysis failed 49...
Inactivating mutations of STAG2 have been reported at low frequency in several cancers. In glioblastoma, the function has related to maintenance euploidy via its role cohesin complex. a screen large series bladder tumours and cell lines, we found inactivating (nonsense, frameshift splicing) 67 307 (21.8%) 6 47 lines. Thirteen missense unknown significance were also identified. mutation was associated with tumour stage (P = 0.001) grade 0.0002). There relationship female patient gender...
Understanding the molecular determinants that underpin clinical heterogeneity of non-muscle-invasive bladder cancer (NMIBC) is essential for prognostication and therapy development. Stage T1 disease in particular presents a high risk progression requires improved understanding. We present detailed multi-omics study containing gene expression, copy number, mutational profiles show relationships to immune infiltration, recurrence, muscle invasion. compare expression genomic subtypes derived...
Abstract Recent evidence suggests that the ion channel TRPA1 is implicated in lung adenocarcinoma (LUAD), where its role and mechanism of action remain unknown. We have previously established membrane receptor FGFR2 drives LUAD progression through aberrant protein–protein interactions mediated via C-terminal proline-rich motif. Here we report N-terminal ankyrin repeats directly bind to motif inducing constitutive activation receptor, thereby prompting metastasis. Furthermore, show upon...
Genome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk the disease.We report here results a GWAS UBC including 1670 cases and 90 180 controls, followed by replication analysis in additional 5266 10 456 controls.We tested dataset containing 34.2 million variants, generated imputation based on whole-genome sequencing 2230 Icelanders.Several correlated 20p12, represented rs62185668, show genome-wide significant...