Juliet D. French
- RNA modifications and cancer
- Genomics and Chromatin Dynamics
- RNA Research and Splicing
- CRISPR and Genetic Engineering
- BRCA gene mutations in cancer
- Cancer-related molecular mechanisms research
- Cancer Genomics and Diagnostics
- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- Molecular Biology Techniques and Applications
- Gene expression and cancer classification
- Parasites and Host Interactions
- RNA and protein synthesis mechanisms
- Parasite Biology and Host Interactions
- Genetic factors in colorectal cancer
- Cancer-related gene regulation
- DNA Repair Mechanisms
- Bioinformatics and Genomic Networks
- MicroRNA in disease regulation
- Breast Cancer Treatment Studies
- Circular RNAs in diseases
- Animal Genetics and Reproduction
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Wnt/β-catenin signaling in development and cancer
QIMR Berghofer Medical Research Institute
2016-2025
The University of Queensland
2011-2024
Queensland University of Technology
2023-2024
Peter MacCallum Cancer Centre
2021
Long noncoding RNAs (lncRNAs) are increasingly recognized to play major regulatory roles in development and disease. To identify novel regulators breast biology, we identified differentially regulated lncRNAs during mouse mammary development. Among the highest most expressed was a transcript ( Zfas1 ) antisense 5′ end of protein-coding gene Znfx1 . In vivo, RNA is localized within ducts alveoli gland. intronically hosts three previously undescribed C/D box snoRNAs (SNORDs): Snord12 ,...
Epigenetic alterations in the cancer methylome are common breast and provide novel options for tumour stratification. Here, we perform whole-genome methylation capture sequencing on small amounts of DNA isolated from formalin-fixed, paraffin-embedded tissue triple-negative (TNBC) matched normal samples. We identify differentially methylated regions (DMRs) enriched with promoters associated transcription factor binding sites hypersensitive sites. Importantly, stratify TNBCs into three...
The 85-kb breast cancer-associated gene BRCA1 is an established tumor suppressor gene, but its regulation poorly understood. We demonstrate by conformation analysis in both human cell lines and mouse mammary tissue that loops are imposed on between the promoter, introns, terminator region. Significantly, association promoter regions change upon estrogen stimulation during lactational development. Loop formation transcription-dependent, suggesting transcriptional elongation plays active role...
Abstract Mendelian-like inheritance of germline DNA methylation in cancer susceptibility genes has been previously reported. We aimed to scan the genome for heritable marks associated with breast by studying 25 Australian multiple-case families. Here we report genome-wide measured 210 peripheral blood samples provided family members using Infinium HumanMethylation450. develop and apply a new statistical method identify based on complex segregation analysis. estimate carrier probabilities...
Schistosomiasis is a disease that significantly impacts human health in the developing world. Effective diagnostics are urgently needed for improved control of this disease. CRISPR-based technology has rapidly accelerated development revolutionary and powerful platform, resulting advancement class ultrasensitive, specific, cost-effective portable diagnostics, typified by applications COVID-19/cancer diagnosis.
Long noncoding RNAs (lncRNAs) have surpassed the number of protein-coding genes, yet majority no known function. We previously discovered 844 lncRNAs that were genetically linked to breast cancer through genome-wide association studies (GWAS). Here, we show a subset these alter risk by modulating cell proliferation, and provide evidence reduced expression on one lncRNA increases aberrant DNA replication repair.
OLIG2-expressing tumor stem cells have been shown to drive recurrence in Sonic Hedgehog (SHH)-subgroup medulloblastoma (MB) and patients urgently need specific therapies target this cell population. Here, we investigate the therapeutic potential of brain-penetrant orally bioavailable, OLIG2 inhibitor CT-179, using SHH-MB explant organoids, PDX GEM models. We find that CT-179 disrupts dimerization, phosphorylation DNA binding alters cell-cycle kinetics, increasing differentiation apoptosis....
MicroRNAs (miRNAs) are small non-coding RNAs of ∼20 nt in length that capable modulating gene expression post-transcriptionally. Although miRNAs have been implicated cancer, including breast the regulation miRNA transcription and role defects this process cancer is not well understood. In study we mapped promoters 93 cancer-associated miRNAs, then looked for associations between DNA methylation 15 these cells. The with clearest association included a previously described novel promoter...
Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects 50 case-control in Breast Cancer Association Consortium (BCAC). With for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495–45,364,167; NCBI build 37), found evidence least three independent signals: strongest signal, consisting single SNP rs10941679, was...
Predicting response to endocrine therapy and survival in oestrogen receptor positive breast cancer is a significant clinical challenge novel prognostic biomarkers are needed. Long-range regulators of gene expression emerging as promising therapeutic targets for human diseases, so we have explored the potential distal enhancer elements non-coding RNAs prognostication survival. HOTAIR long RNA that overexpressed, promotes metastasis predictive decreased Here, describe long-range...
Genome-wide association studies (GWAS) have identified markers within the WNT4 region on chromosome 1p36.12 showing consistent and strong with increasing endometriosis risk. Fine mapping using sequence imputed genotype data has revealed candidates for causal SNPs these critical regions; however, molecular pathogenesis of is currently unknown. We used gene expression collected from whole blood 862 individuals endometrial tissue 136 independent populations European descent to examine mechanism...
Abstract Background Genome-wide association studies (GWAS) have identified > 200 loci associated with breast cancer risk. The majority of candidate causal variants are in non-coding regions and likely modulate risk by regulating gene expression. However, pinpointing the exact target association, identifying phenotype it mediates, is a major challenge interpretation translation GWAS. Results Here, we show that pooled CRISPR screens highly effective at GWAS genes defining phenotypes they...
Breast cancer outcome, including response to therapy, risk of metastasis and survival, is difficult predict using currently available methods, highlighting the urgent need for more informative biomarkers. Androgen receptor (AR) has been implicated in breast carcinogenesis however its potential be an biomarker yet fully explored. In this study, AR protein levels were determined a cohort 73 Grade III invasive ductal adenocarcinomas.The tumour samples was by immunohistochemistry results...
Mono-allelic germline pathogenic variants in the Partner And Localizer of BRCA2 (PALB2) gene predispose to a high-risk breast cancer development, consistent with role PALB2 homologous recombination (HR) DNA repair. Here, we sought define repertoire somatic genetic alterations PALB2-associated cancers (BCs), and whether BCs display bi-allelic inactivation and/or genomic features HR-deficiency (HRD). Twenty-four patients mutations were analyzed by whole-exome sequencing (WES, n = 16) or...
PURPOSE Establishing accurate age-related penetrance figures for the broad range of cancer types that occur in individuals harboring a pathogenic germline variant TP53 gene is essential to determine most effective clinical management strategies. These also permit optimal use cosegregation data classification variants unknown significance. Penetrance estimation can easily be affected by bias from ascertainment criteria, an issue not commonly addressed previous studies. MATERIALS AND METHODS...