A5087430113- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Nutrition, Genetics, and Disease
- Family Support in Illness
- Colorectal Cancer Screening and Detection
- Childhood Cancer Survivors' Quality of Life
- Global Cancer Incidence and Screening
- Chronic Myeloid Leukemia Treatments
- Dietetics, Nutrition, and Education
- DNA Repair Mechanisms
- Prenatal Screening and Diagnostics
- Acute Lymphoblastic Leukemia research
- Epigenetics and DNA Methylation
- Climate Change Communication and Perception
- Chronic Lymphocytic Leukemia Research
- Patient-Provider Communication in Healthcare
- PARP inhibition in cancer therapy
- Cancer Risks and Factors
- Ethics in Clinical Research
- Cutaneous Melanoma Detection and Management
- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Skin Protection and Aging
The University of Sydney
2014-2024
Westmead Hospital
2015-2024
Westmead Institute for Medical Research
2012-2024
Cancer Services
2006-2023
Hunter Genetics
2006-2023
Western Sydney University
2022
Westmead Institute
2000-2021
University of Rochester Medical Center
2002-2021
Cancer Australia
2008-2018
Unity Health System
2015-2017
Abstract Heterogeneous subtypes of cancer-associated fibroblasts (CAFs) coexist within pancreatic cancer tissues and can both promote restrain disease progression. Here, we interrogate how cells harboring distinct alterations in p53 manipulate CAFs. We reveal the existence a p53-driven hierarchy, where with gain-of-function (GOF) mutant educate dominant population CAFs that establish pro-metastatic environment for GOF null alike. also demonstrate educated by may be reprogrammed either or...
Clinicopathologic data from a population-based endometrial cancer cohort, unselected for age or family history, were analyzed to determine the optimal scheme identification of patients with germline mismatch repair (MMR) gene mutations.Endometrial cancers 702 recruited into Australian National Endometrial Cancer Study (ANECS) tested MMR protein expression using immunohistochemistry (IHC) and MLH1 promoter methylation in MLH1-deficient cases. mutation testing was performed on DNA MMR-protein...
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,...
To determine the timing of pubertal development and frequency gonadal dysfunction in children who survive acute lymphoblastic leukemia, we assessed status plasma levels sex steroids, gonadotropin, inhibin 45 (20 girls 25 boys) had received combination chemotherapy along with 24 Gy irradiation to cranium (modified LSA2L2 protocol). We also reexamined testicular biopsy specimens, obtained at time cessation chemotherapy, for presence germ cells. Germ-cell damage, indicated by marked elevations...
Pathogenic germline MAX variants are associated with pheochromocytoma and paraganglioma (PPGL), pituitary neuroendocrine tumors and, possibly, other endocrine nonendocrine tumors.To report 2 families variants, pheochromocytomas (PCs) multiple tumors.Clinical, genetic, immunohistochemical, functional studies at University hospitals in Australia on undergoing usual clinical care. The main outcome measures were phenotyping; tumor sequencing; immunohistochemistry of PC tumors; variants.Family A...
Here we report the DNA methylation profile of 84 sporadic pancreatic neuroendocrine tumors (PanNETs) with associated clinical and genomic information. We identified three subgroups PanNETs, termed T1, T2 T3, distinct patterns methylation. The T1 subgroup was enriched for functional ATRX, DAXX MEN1 wild-type genotypes. contained mutations in recurrent chromosomal losses half genome no association between regions loss levels. were larger had lower MGMT gene body, which showed positive...
PURPOSE: To assess intention to undergo prophylactic bilateral mastectomy and psychologic determinants in unaffected women at increased risk of developing hereditary breast cancer. PATIENTS AND METHODS: Three hundred thirty-three who were awaiting their initial appointments for assessment, advice about surveillance, options one 14 familial cancer clinics participated a cross-sectional, questionnaire-based survey. RESULTS: Nineteen percent would consider 47% not mastectomy, should genetic...
The incidence and clinical implications of unusual patterns expression leucocyte differentiation antigens in acute leukaemia were assessed on 568 newly diagnosed paediatric adult cases undergoing immunophenotyping with a panel monoclonal antibodies at single centre. Among patients the precursor B (common) form lymphoblastic (ALL), major variant seen was group 15 myeloid surface antigens. 4.5% ALL tested antibody to CD-11b positive, 5.1% CD-13+, 10.8% CD-33+. All achieved complete remission...
Background Microseminoprotein-beta (MSMB) regulates apoptosis and using genome-wide association studies the rs10993994 single nucleotide polymorphism in MSMB promoter has been linked to an increased risk of developing prostate cancer. The location allele, its ability reduce activity, suggested that allele could result lowered benign tissue leading cancer risk. Methodology/Principal Findings expression malignant was examined immunohistochemistry compared with genotype. Urinary concentrations...
Telegenetics offers an alternative model of delivering genetic counseling to rural and outreach areas; however there is a dearth qualitative research into the patient's experience. Twelve women who had received telemedicine for hereditary breast and/or ovarian cancer (HBOC) within previous 12 months participated in semi-structured telephone interview. The interview explored women's experience with telegenetics, satisfaction, perceived advantages disadvantages quality interaction their...
PurposeWe evaluated the impact of personal melanoma genomic risk information on sun-related behaviors and psychological outcomes.MethodsIn this parallel group, open, randomized controlled trial, 1,025 Australians European ancestry without aged 18–69 years were recruited via Medicare database (3% consent). Participants to intervention (n = 513; saliva sample for genetic testing, personalized booklet based a 40-variant polygenic score, telephone-based counseling, educational booklet) 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...
The breast cancer susceptibility genes BRCA1 and BRCA2 are responsible for a large proportion of familial ovarian cancer, yet little is known how disruptions in the functions proteins these encode increased risk preferentially hormone-dependent tissue. There no information on whether germ-line mutation or causes hormone-signaling pathways normal breast. In this study markers hormone responsiveness were measured prophylactically removed tissue (n = 31) women bearing pathogenic one BRCA genes....
Abstract Background: Communication of personalized melanoma genomic risk information may improve prevention behaviors. Methods: We evaluated the feasibility and acceptability communicating to public its preliminary impact on behaviors psychosocial outcomes. One hundred eighteen people aged 22 69 years provided a saliva sample were randomized control (nonpersonalized educational materials) or intervention (personalized booklet presenting as absolute relative risks category based variants in...