A5050429268- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Pancreatic and Hepatic Oncology Research
- Radiation Dose and Imaging
- Genetic Associations and Epidemiology
- Tuberous Sclerosis Complex Research
- Radiation Therapy and Dosimetry
- Health Systems, Economic Evaluations, Quality of Life
- Global Cancer Incidence and Screening
- Tumors and Oncological Cases
- Nuclear and radioactivity studies
- CRISPR and Genetic Engineering
- Nuclear Physics and Applications
- Colorectal Cancer Screening and Detection
- Family Support in Illness
- Ethics in Clinical Research
- Epigenetics and DNA Methylation
- Pancreatitis Pathology and Treatment
- Effects of Radiation Exposure
- Prenatal Screening and Diagnostics
Austin Health
2018-2024
Austin Hospital
2019-2021
Ricardo AEA (United Kingdom)
1994
University of Iowa
1966
University of the West Indies
1966
Studies of the mortality among nuclear industry workforces have been carried out, and nationally combined analyses performed, in U.S., UK Canada. This paper presents results internationally data on 95,673 workers (85.4% men) monitored for external exposure to ionizing radiation employed 6 months or longer one three countries. These were undertaken obtain a more precise direct assessment carcinogenic effects protracted low-level external, predominantly gamma, radiation. The combination from...
Polygenic risk scores (PRSs) are increasingly being implemented to assess breast cancer risk. This study aimed and determine factors associated with uptake of PRS among women at increased for whom genetic testing date had been uninformative. Participants were recruited from the Variants in Practice which calculated. Four hundred notified by letter availability their invited complete a self-administered survey comprising several validated scales. Considering non-participants, was between...
Significant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing for children with rare diseases in many centres, but there remains a service gap adults. The Austin Health Adult Undiagnosed Disease Program (AHA-UDP) was designed complement existing UDP programs that focus on paediatric address an area of unmet diagnostic need adults undiagnosed conditions Victoria, Australia. It conducted at large Victorian hospital demonstrate the benefits...
Background Current guidelines recommend a step‐wise screening algorithm for all colorectal carcinomas (CRC) to identify patients with Lynch syndrome (LS). Aim To describe the frequencies of mismatch repair deficiency (dMMR), BRAFV600E mutations and MLH1 methylation in resected CRC, evaluate impact universal on LS detection. Methods Retrospectively, 1171 consecutive cases CRC were identified between 2010 2017 from large multi‐centre pathology service. Testing dMMR by immunohistochemistry...
Background The strength of evidence supporting the validity gene-disease relationships is variable. Hereditary cancer has additional complexity low or moderate penetrance for some confirmed disease-associated alleles. Methods To promote national consistency in interpretation hereditary cancer/tumour gene test results, we requested opinions representatives from Australian Family Cancer Clinics regarding clinical utility 157 genes initially collated a research project. Viewpoints were sought...
The Australian Pancreatic Cancer Screening Program (APCSP) offers endoscopic ultrasound surveillance for individuals at increased risk of pancreatic ductal adenocarcinoma (PDAC) with all participants requiring assessment by a Familial Service before or after study enrolment. Individuals aged 40-80 years (or 10 younger than the earliest PDAC diagnosis) were eligible APCSP entry if they had 1) ≥ two blood relatives (at least one first-degree association); 2) clinical genetic diagnosis...
Abstract Hereditary breast cancer is associated with known genetic changes: either variants that affect function in a few rare genes or an ever‐increasing number of common genomic risk variants, which combine to produce cumulative effect, as polygenic (PR) score. While the clinical validity and utility PR scores are still being determined, communication new challenge for health professionals. This study investigated how discussed familial clinic compared previous assessing monogenic (MR)...
In a recent case-control study among UKAEA employees an elevated incidence of prostate cancer was associated with potential exposure to 51Cr, 65Zn, 60Co, 59Fe and 3H. The authors highlighted 65Zn as the most likely carcinogen because zinc is concentrated in gland effective doses from its Auger electrons may be very high at short range. However, predictions BEIR V models are that radiation dose least 17 Sv would required account for observed risk cancer. calculate maximum conceivable intakes...
The pioneering Compensation Agreement between BNFL and its signatory Staff Trade Unions was introduced in 1982, initially limited to cases where a cancer had caused death. In 1987 the extended include developed but not death United Kingdom Atomic Energy Authority joined with operating Agreement. It originally recognised that technical basis of would require review, order benefit from experience gained during initial period operation scheme permit incorporation revised estimates effects...
Abstract Background Significant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing for children with rare diseases in many centres, but there remains a service gap adults. The Austin Health Adult Undiagnosed Disease Program (AHA-UDP) was designed complement existing UDP programs that focus on paediatric address an area of unmet diagnostic need adults undiagnosed conditions Victoria, Australia. It conducted at large Victorian hospital...
Following publication of the original article [1], an error was identified in affiliation 6. The correct 6 is: University New South Wales, St Vincent's Clinical School and Prince Wales School, Randwick, NSW 2031, Australia [1] has been corrected.