A5065972235- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Nutrition, Genetics, and Disease
- Genetic factors in colorectal cancer
- Epigenetics and DNA Methylation
- Ovarian cancer diagnosis and treatment
- Cancer Genomics and Diagnostics
- PARP inhibition in cancer therapy
- Cancer-related Molecular Pathways
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Genomics and Rare Diseases
- Genomics and Chromatin Dynamics
- CRISPR and Genetic Engineering
- Bladder and Urothelial Cancer Treatments
- Cancer, Lipids, and Metabolism
- Cancer-related molecular mechanisms research
- Cancer-related gene regulation
- Plant Virus Research Studies
- Cell death mechanisms and regulation
- Skin Protection and Aging
- Bipolar Disorder and Treatment
- Viral-associated cancers and disorders
- Genetics, Bioinformatics, and Biomedical Research
- Cancer Mechanisms and Therapy
University of Newcastle Australia
2014-2024
Hunter Medical Research Institute
2013-2024
Peter MacCallum Cancer Centre
2016-2018
Hunter Genetics
2013-2018
Campbell University
2016
John Hunter Hospital
2016
National Institutes of Health
2012
United States Department of Defense
2012
Eunice Kennedy Shriver National Institute of Child Health and Human Development
2012
Chinese University of Hong Kong
2006
Gene panel sequencing is revolutionizing germline risk assessment for hereditary breast cancer. Despite scant evidence supporting the role of many these genes in cancer predisposition, results are often reported to families as definitive explanation their family history. We assessed frequency mutations 18 included panels among index cases from with and matched population controls.Cases (n = 2,000) were predominantly cancer-affected women referred specialized Familial Cancer Centers on basis...
Mutation of p53 is a common feature cancer. Breast cancer the most malignancy that develops in women; however, somatic mutation rare, suggesting becomes inactivated by other mechanisms. expressed as smaller isoforms, some which inhibit wild-type p53. There are no studies have examined relative expression all isoforms this disease. We analysed messenger RNA Δ40, Δ133, β and γ panel 6 breast cell lines, 148 cancers specimens 31 matched normal adjacent tissues semi-quantitative real-time...
Abstract Triple negative breast cancer (TNBC) is the most aggressive subtype with worst prognosis and no targeted treatments. TNBC patients are more likely to develop metastases relapse than other subtypes. We aimed identify TNBC-specific genes associated lymph node metastasis, one of first signs metastatic spread. A total 33 TNBCs were used; 17 which had matched normal adjacent tissues available 15 metastases. Gene expression microarray analysis was used reveal that differentially expressed...
Abstract Triple negative breast cancer (TNBC) is the most aggressive subtype with no targeted treatment available. Our previous study identified 38 TNBC-specific genes altered expression comparing tumour to normal samples. This aimed establish whether DNA methylation contributed these changes in same cohort as well disease progression from primary lymph node metastasis associated epigenome. We obtained 23 TNBC samples, 12 matched metastases, and 11 adjacent tissues assayed for differential...
PALB2 is emerging as a high-penetrance breast cancer predisposition gene in the order of BRCA1 and BRCA2. However, large studies that have evaluated full rather than just most common variants both cases controls are required before all truncating can be included familial variant testing. In this study we analyse almost 2000 sourced from individuals referred to clinics, thus representing typical presenting clinical practice. These were compared similar number population-based cancer-free...
Abstract The breast cancer predisposition gene, BRCA2 , has a large number of genetic variants unknown effect. variant rs11571833, an A > T transversion in the final exon gene that leads to creation stop codon 93 amino acids early (K3326*), is reported as neutral polymorphism but there some evidence suggest association with increased risk cancer. We assessed whether this was enriched cohort cases ascertained through familial clinics compared population-based non-cancer controls using...
<h3>Background</h3> McCune Albright syndrome (MAS), a disorder caused by somatic activating mutations in the <i>GNAS</i> gene, usually presents with cutaneous, skeletal, and endocrine manifestations. While focal lesions involving multiple tissues have been identified MAS, almost nothing is known about gastrointestinal this disease. <h3>Methods</h3> Two MAS patients perioral freckling, resembling Peutz–Jeghers (PJS), two without similar pigmentation underwent endoscopy to establish if they...
Platinum chemoresistance results in high-grade serous ovarian cancer (HGSOC) disease recurrence. Recent treatment advances using checkpoint inhibitor immunotherapy has not benefited platinum-resistant HGSOC. In cancer, DNA methyltransferase inhibitors (DNMTi) block methylation and allow expression of silenced genes, primarily affecting immune reactivation pathways. We aimed to determine the epigenome transcriptome response sequential with DNMTi carboplatin HGSOC.In vitro studies azacitidine...
3p21 is an important locus harbouring critical tumour suppressor genes (TSG), which are implicated in the pathogenesis of multiple tumours, including oesophageal carcinoma. RASSF1A a 3p21.3 candidate TSG frequently inactivated by promoter methylation tumours. We investigated and gene expression Chinese squamous cell carcinoma (ESCC) to compare it data from Japanese patients. Methylation-specific PCR (MSP) showed that was partially methylated 3/7 (43%) lines; 22/64 (34%) primary tumours 3/64...
Abstract Breast cancer (BC) has a significant heritable component but the genetic contribution remains unresolved in majority of high-risk BC families. This study aims to investigate monogenic causes underlying familial aggregation beyond BRCA1 and BRCA2 , including identification new predisposing genes. A total 11,511 non-BRCA cases population-matched cancer-free female controls BEACCON were investigated two sequencing phases: 1303 candidate genes up 3892 controls, followed by validation...
Raynaud's phenomenon is a well-described pathologic state in which there episodic vasospasm followed by vasodilation. It described most commonly the digits but also has been shown to affect nipple vasculature. of may result discontinuation breastfeeding secondary pain and disruption maternal-infant bonding process.We present cases two patients with painful associated color changes nipple. Owing clinical presentation similar fungal infections, were treated repeatedly antifungals before...
Breast cancer is the most common female cancer, but it has relatively low rates of p53 mutations, suggesting other mechanisms are responsible for inactivation. We have shown that isoform, Δ40p53, highly expressed in breast where may contribute to Δ40p53 can be produced by alternative splicing intron 2 and this regulated formation G-quadruplex structures 3, from which nucleotides forming these overlap with a polymorphism, rs17878362. rs17878362 alters decrease fully spliced messenger RNA...
During the early postnatal period, impact of nutrition on DNA methylation has not been well studied in humans. The aim was to quantify relationship between one-carbon metabolism nutrient intake during first three years life and global levels at four years.
Triple-negative breast cancer (TNBC) is a tumour classification that defined by oestrogen receptor, progesterone receptor and human epidermal growth factor 2 negativity. TNBCs share similar gene expression profile to BRCA-mutated tumours, have been shown carry high proportion of BRCA mutations more adverse prognosis compared other types tumours. PALB2 has be moderate-penetrance susceptibility involved in the same DNA damage repair pathway as BRCA1 BRCA2; this raises possibility germline may...
Excision repair cross-complementation group 2 (ERCC2) encodes the DNA helicase xeroderma pigmentosum D, which functions in transcription and nucleotide excision repair. Point mutations ERCC2 are putative drivers around 10% of bladder cancers (BLCAs) a potential positive biomarker for cisplatin therapy response. Nevertheless, prognostic significance directly attributed to its pathogenic role genome instability remain poorly understood. We first demonstrated that mutant is an independent...
Zusammenfassung Alkohol- und substanzassoziierte Störungen (ASUD), insbesondere Abhängigkeitserkrankungen gehören zu den häufigsten komorbiden bei bipolar affektiven Erkrankungen (BAS). Diese haben signifikanten Einfluss auf die Schwere der Erkrankung deren Verlauf. Basierend einer Literaturrecherche ist das Ziel dieser Übersicht, aktuelle Befunde zur Epidemitologie, Ursachen Verlauf beider komorbider Störungsbilder darzustellen daraus Schlüsse für Therapie Betroffenen ziehen. Hierzu werden...
Abstract Background Accumulating evidence suggests that breastfeeding exclusivity and duration are positively associated with child cognition. This study investigated whether DNA methylation, an epigenetic mechanism modified by nutrient intake, may contribute to the link between The aim was quantify relationship global methylation cognition behavior at 4 years of age. Methods Child were measured age using Wechsler Preschool Primary Scale Intelligence, third version (WPPSI‐III), Behavior...