Rosemary L. Balleine
- Estrogen and related hormone effects
- Cancer Genomics and Diagnostics
- Ovarian cancer diagnosis and treatment
- BRCA gene mutations in cancer
- Breast Cancer Treatment Studies
- Pharmacogenetics and Drug Metabolism
- HER2/EGFR in Cancer Research
- Drug Transport and Resistance Mechanisms
- Receptor Mechanisms and Signaling
- Inflammatory mediators and NSAID effects
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- Gene expression and cancer classification
- Advanced Proteomics Techniques and Applications
- Computational Drug Discovery Methods
- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- Cancer-related molecular mechanisms research
- Nutrition, Genetics, and Disease
- Genomics and Chromatin Dynamics
- Cancer Cells and Metastasis
- Breast Lesions and Carcinomas
- Molecular Biology Techniques and Applications
- PARP inhibition in cancer therapy
- Cancer Mechanisms and Therapy
The University of Sydney
2014-2025
Children's Medical Research Institute
2018-2025
Westmead Institute for Medical Research
2013-2024
Westmead Institute
2008-2023
Westmead Hospital
2007-2023
Sydney South West Area Health Service
2008-2023
New South Wales Department of Health
2021
Peter MacCallum Cancer Centre
2021
Royal Prince Alfred Hospital
2005-2018
Roche (Switzerland)
2018
The human progesterone receptor (PR) is expressed as two isoforms, PRA and PRB, that function ligand-activated transcription factors. In vitro studies suggest the isoforms differ functionally relative levels in a target cell may determine nature magnitude of response to progesterone. However, it not known whether are normally coexpressed vivo. To understand functional significance PR isoform expression normal physiology, essential PRB same cell. This study reports development dual...
Abstract Introduction Metastases to the brain from breast cancer have a high mortality, and basal-like cancers propensity for metastases. However, mechanisms that allow cells colonize are unclear. Methods We used morphology, immunohistochemistry, gene expression somatic mutation profiling analyze 39 matched pairs of primary metastases, 22 unmatched metastases cancer, 11 non-breast 6 autopsy cases patients with multiple sites, including brain. Results Most were triple negative . The...
Abstract Triple-negative breast cancers are an aggressive subtype of cancer with poor survival, but there remains little known about the etiologic factors that promote its initiation and development. Commonly inherited risk identified through genome-wide association studies display heterogeneity effect among subtypes as defined by status estrogen progesterone receptors. In Triple Negative Breast Cancer Consortium (TNBCC), 22 common susceptibility variants were investigated in 2,980 Caucasian...
Abstract Introduction The distribution of histopathological features invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that individuals with no known mutation. Histopathological thus have utility for prediction, including statistical modeling to assess pathogenicity variants uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium Investigators Modifiers /2 (CIMBA) and Breast Cancer Association (BCAC) reassess predictors...
Abstract Reproducible research is the bedrock of experimental science. To enable deployment large-scale proteomics, we assess reproducibility mass spectrometry (MS) over time and across instruments develop computational methods for improving quantitative accuracy. We perform 1560 data independent acquisition (DIA)-MS runs eight samples containing known proportions ovarian prostate cancer tissue yeast, or control HEK293T cells. Replicates are run on six spectrometers operating continuously...
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...
Low-grade serous ovarian carcinomas (LGSC) are Ras pathway-mutated, TP53 wild-type, and frequently associated with borderline tumors. Patients LGSCs respond poorly to platinum-based chemotherapy may benefit from pathway-targeted agents. High-grade (HGSC) TP53-mutated thought be rarely We sought determine whether histology grade 2 or 3 carcinoma was an indicator of mutation, we explored the molecular relationship between coexisting invasive histologies.We reviewed >1,200 patients identified...
The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) is a multidisciplinary, collaborative framework the investigation of familial breast cancer. Based in Australia, primary aim kConFab to facilitate high-quality research by amassing large and comprehensive resource epidemiological clinical data with biospecimens from individuals at high risk and/or ovarian cancer, their close relatives. Epidemiological, family history lifestyle data, as well...
The aim of this study was to explore the impact individual variation in drug elimination on imatinib disposition. Twenty-two patients with gastrointestinal stromal tumor or chronic myeloid leukemia initially received 600 mg daily dosage subsequently toxicity adjusted. Pharmacokinetic parameters day 1 and at steady-state were compared phenotype single-nucleotide polymorphisms CYP3A5 ABCB1. A fivefold estimated clearance (CL/F) present mean CL/F had fallen by 26% steady state. This reduction...
Proliferation in the nonpregnant human breast is highest luteal phase of menstrual cycle when serum progesterone levels are high, and exposure to analogues hormone replacement therapy known elevate cancer risk, yet proliferative effects poorly understood. In a model normal breast, we have shown that increased incorporation 5-bromo-2′-deoxyuridine cell numbers by activation pathways involved DNA replication licensing, including E2F transcription factors, chromatin licensing factor 1 (Cdt1),...
Endoxifen is the major mediator of tamoxifen effect and endoxifen levels <15 nmol/L may be associated with increased risk breast cancer recurrence. We dose in patients low assessed influence various parameters on reaching 15 30 levels.Tamoxifen was those below nmol/L. Toxicity, including hot flash score, measured. CYP2D6 metabolizer status classified as ultra-rapid (UM), extensive (EM), intermediate (IM), or poor (PM) based genotype somatic DNA.Dosage escalated 68 122 participants. On 20 mg...
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...
The human progesterone receptor (PR) expressed as two isoforms, PRA and PRB, which function ligand-activated transcription factors. In-vitro studies suggest that the isoforms differ functionally their relative expression in a target cell may determine nature magnitude of response progesterone. We have shown recently PRB are co-expressed cells endometrium. purpose this study was to investigate homogeneity uterus throughout menstrual cycle. In functionalis, were comparable levels glandular...
Abstract Recurrent chromosome 8q gain in ovarian carcinoma is likely to reflect the existence of multiple target loci, as separate bands 8q21 and 8q24 has been reported independent studies. Since tumor protein D52 ( TPD52 ) identified a amplification breast prostate carcinoma, we compared expression normal epithelium n = 9), benign serous adenomas 11), borderline tumors 6) invasive carcinomas major histologic subtypes 57) using immunohistochemistry. These analyses revealed that all samples...
To evaluate the utility of Ki67 as a prognostic marker in series patients with node-negative breast cancer untreated adjuvant systemic therapy.The cohort consisted 203 cases treated conserving surgery and radiation only; median follow-up was 183 months (range 156-277 months). An immunohistochemical panel oestrogen receptor (ER), progesterone (PR), cytokeratin (CK)5/6 human epidermal growth factor 2 situ hybridization (HER2-ISH) performed on tumour samples. scores were evaluable 193/203...
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...
Abstract Background Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants differential associations by estrogen receptor (ER) status, but how relate with other tumor features and intrinsic molecular subtypes is unclear. Methods Among 106,571 invasive cases 95,762 controls European ancestry data on 173 in previous GWAS, we used novel two-stage polytomous logistic regression models to evaluate relation (ER,...
Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral (CBC) risk cancer-specific survival (BCSS) is scarce. The aim of this study was to assess the association protein-truncating (PTVs) rare missense (MSVs) nine known (ATM, BARD1, CHEK2, PALB2, RAD51C, RAD51D, TP53) 25 suspected BC-susceptibility CBC BCSS. Hazard ratios (HRs) 95% confidence intervals (CIs) were estimated Cox regression models. Analyses...