Kátia Nones
A5085661408- Cancer Genomics and Diagnostics
- Melanoma and MAPK Pathways
- Animal Nutrition and Physiology
- Pancreatic and Hepatic Oncology Research
- Epigenetics and DNA Methylation
- Genetic and phenotypic traits in livestock
- Genetic factors in colorectal cancer
- Genetic Mapping and Diversity in Plants and Animals
- Computational Drug Discovery Methods
- Lung Cancer Treatments and Mutations
- RNA modifications and cancer
- PARP inhibition in cancer therapy
- Genomic variations and chromosomal abnormalities
- Cancer-related molecular mechanisms research
- DNA Repair Mechanisms
- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Genomics and Chromatin Dynamics
- AI and HR Technologies
- Human Resource Development and Performance Evaluation
- Cancer-related gene regulation
- Occupational and environmental lung diseases
- Ovarian cancer diagnosis and treatment
- Esophageal Cancer Research and Treatment
- Cancer Cells and Metastasis
QIMR Berghofer Medical Research Institute
2016-2025
The University of Queensland
2015-2025
Royal Brisbane and Women's Hospital
2017-2019
Sullivan Nicolaides Pathology
2019
Garvan Institute of Medical Research
2019
Westmead Institute for Medical Research
2019
Peter MacCallum Cancer Centre
2019
University of Cambridge
2019
Wesley Hospital
2017
Queensland Health
2017
Abstract Background Variants of microRNAs (miRNAs), called isomiRs, are commonly reported in deep-sequencing studies; however, the functional significance these variants remains controversial. Observational studies show that isomiR patterns non-random, hinting molecules could be regulated and therefore functional, although no conclusive biological role has been demonstrated for molecules. Results To assess relevance we have performed ultra-deep miRNA-seq on ten adult human tissues, created...
Oesophageal adenocarcinoma (EAC) incidence is rapidly increasing in Western countries. A better understanding of EAC underpins efforts to improve early detection and treatment outcomes. While large exome sequencing date have found recurrent loss-of-function mutations, oncogenic driving events been underrepresented. Here we use a combination whole-genome (WGS) single-nucleotide polymorphism-array profiling show that genomic catastrophes are frequent EAC, with almost third (32%, n=40/123)...
Abstract Knowledge of key drivers and therapeutic targets in mucosal melanoma is limited due to the paucity comprehensive mutation data on this rare tumor type. To better understand genomic landscape melanoma, here we describe whole genome sequencing analysis 67 tumors validation driver gene mutations by exome 45 tumors. Tumors have a low point burden high numbers structural variants, including recurrent rearrangements targeting TERT, CDK4 MDM2 . Significantly mutated genes are NRAS , BRAF...
The importance of epigenetic modifications such as DNA methylation in tumorigenesis is increasingly being appreciated. To define the genome-wide pattern pancreatic ductal adenocarcinomas (PDAC), we captured profiles 167 untreated resected PDACs and compared them to a panel 29 adjacent nontransformed pancreata using high-density arrays. A total 11,634 CpG sites associated with 3,522 genes were significantly differentially methylated (DM) PDAC capable segregating from non-malignant pancreas,...
Abstract To increase understanding of the genomic landscape acral melanoma, a rare form melanoma occurring on palms, soles or nail beds, whole genome sequencing 87 tumors with matching transcriptome for 63 was performed. Here we report that mutational signature analysis reveals subset tumors, mostly subungual, an ultraviolet radiation signature. Significantly mutated genes are BRAF, NRAS , NF1 NOTCH2 PTEN and TYRP1 . Mutations amplification KIT also common. Structural rearrangement copy...
Abstract The lysyl oxidase family represents a promising target in stromal targeting of solid tumors due to the importance this crosslinking and stabilizing fibrillar collagens its known role tumor desmoplasia. Using small-molecule drug-design approaches, we generated validated PXS-5505, first-in-class highly selective potent pan-lysyl inhibitor. We demonstrate vitro vivo that inhibition decreases chemotherapy-induced pancreatic desmoplasia stiffness, reduces cancer cell invasion metastasis,...
Metastasis is a complex, multistep process involved in the progression of cancer from localized primary tissue to distant sites, often characteristic more aggressive forms this disease. Despite being studied great detail recent years, mechanisms that govern remain poorly understood. In study, we identify novel role for miR-139-5p inhibition breast progression. We highlight its clinical relevance by reviewing expression across wide variety subtypes using in-house generated and online data...
Abstract Background MicroRNAs (miRNAs) bind to mRNAs and target them for translational inhibition or transcriptional degradation. It is thought that most miRNA-mRNA interactions involve the seed region at 5′ end of miRNA. The importance sites supported by experimental evidence, although there growing interest in mediated central miRNA, termed centered sites. To investigate prevalence these interactions, we apply a biotin pull-down method determine direct targets ten human miRNAs, including...
MicroRNAs are noncoding regulators of gene expression, which act by repressing protein translation and/or degrading mRNA. Many have been shown to drive tumorigenesis in cancer, but functional studies understand their mode action typically limited single-target genes. In this study, we use synthetic biotinylated miRNA pull down endogenous targets miR-182-5p. We identified more than 1000 genes as potential miR-182-5p, most a known function pathways underlying tumor biology. Specifically,...
Pancreatic cancer is one of the most lethal and molecularly diverse malignancies. Repurposing therapeutics that target specific molecular mechanisms in different disease types offers potential for rapid improvements outcome. Although HER2 amplification occurs pancreatic cancer, it inadequately characterized to exploit anti-HER2 therapies.HER2 was detected further analyzed using multiple genomic sequencing approaches. Standardized reference laboratory assays defined a large cohort patients (n...
Abstract Treatment options for patients with brain metastases ( BMs ) have limited efficacy and the mortality rate is virtually 100%. Targeted therapy critically under‐utilized, our understanding of mechanisms underpinning metastatic outgrowth in limited. To address these deficiencies, we investigated genomic transcriptomic landscapes 36 from breast, lung, melanoma oesophageal cancers, using DNA copy‐number analysis exome‐ RNA ‐sequencing. The key findings were as follows. (a) Identification...
Abstract Metaplastic breast carcinoma (MBC) is relatively rare but accounts for a significant proportion of global cancer mortality. This group extremely heterogeneous and by definition exhibits metaplastic change to squamous and/or mesenchymal elements, including spindle, squamous, chondroid, osseous, rhabdomyoid features. Clinically, patients are more likely present with large primary tumours (higher stage), distant metastases, overall, have shorter 5‐year survival compared invasive...
Whole-genome sequencing (WGS) is a powerful method for revealing the diversity and complexity of somatic mutation burden tumours. Here, we investigated utility tumour matched germline WGS understanding aetiology treatment opportunities high-risk individuals with familial breast cancer.