Amanda B. Spurdle
- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Ovarian cancer diagnosis and treatment
- Cancer-related molecular mechanisms research
- CRISPR and Genetic Engineering
- Nutrition, Genetics, and Disease
- RNA Research and Splicing
- Endometrial and Cervical Cancer Treatments
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- DNA Repair Mechanisms
- Prostate Cancer Treatment and Research
- Genetics, Bioinformatics, and Biomedical Research
- Molecular Biology Techniques and Applications
- Estrogen and related hormone effects
- RNA and protein synthesis mechanisms
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cancer-related Molecular Pathways
- Prostate Cancer Diagnosis and Treatment
- Genomics and Chromatin Dynamics
- Colorectal Cancer Screening and Detection
The University of Queensland
2008-2025
QIMR Berghofer Medical Research Institute
2016-2025
The University of Melbourne
2000-2024
Medical Research Institute
2024
Hunter Medical Research Institute
2015-2024
Services Australia
2024
Faculty (United Kingdom)
2024
The Royal Melbourne Hospital
2010-2024
Peter MacCallum Cancer Centre
2000-2024
University of California, Santa Cruz
2024
Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to predict risk developing cancer. In general, sequence-based germline DNA used determine whether an individual carries a change that clearly likely disrupt normal gene function. may detect changes are pathogenic, neutral, or variants unclear significance. Such present considerable challenge the diagnostic laboratory and receiving clinician terms interpretation clear presentation implications result...
Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone (PR) expression status of the tumors.
Abstract Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 2,568 to analyze the pathology invasive breast, ovarian, contralateral cancers. Results: There was strong evidence proportion estrogen receptor (ER)-negative decreased with age at diagnosis among (P-trend = 1.2 × 10−5), but increased BRCA2, 6.8 10−6)....
The causal direction and magnitude of the association between telomere length incidence cancer non-neoplastic diseases is uncertain owing to susceptibility observational studies confounding reverse causation.
A three-stage genome-wide association study recently identified single nucleotide polymorphisms (SNPs) in five loci (fibroblast growth receptor 2 (FGFR2), trinucleotide repeat containing 9 (TNRC9), mitogen-activated protein kinase 3 K1 (MAP3K1), 8q24, and lymphocyte-specific 1 (LSP1)) associated with breast cancer risk. We investigated whether the associations between these SNPs risk varied by clinically important tumor characteristics up to 23,039 invasive cases 26,273 controls from 20...
Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 ovarian (OC) risk. Several of these are also BC or OC for women who carry a pathogenic mutation in the high-risk genes BRCA1 BRCA2. The combined effects variants on BRCA2 carriers not yet been assessed while their clinical management could benefit from improved personalized estimates. We constructed polygenic scores (PRS) using susceptibility...
As genetic testing for predisposition to human diseases has become an increasingly common practice in medicine, the need clear interpretation of test results is apparent. However, many disease genes, including breast cancer susceptibility genes BRCA1 and BRCA2, a significant fraction tests detection variant which association not known. The finding "unclassified" (UV)/variant uncertain significance (VUS) complicates reporting counseling. these variants are individually rare, large...
Pathogenic variants in highly penetrant genes are useful for the diagnosis, therapy, and surveillance hereditary breast cancer. Large-scale studies needed to inform future testing variant classification processes Japanese. We performed a case-control association study coding regions of 11 cancer 7051 unselected patients 11,241 female controls Japanese ancestry. Here, we identify 244 germline pathogenic variants. found 5.7% patients, ranging from 15% women diagnosed <40 years 3.2% ≥80 years,...
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...
The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some these are with breast risk as high those rare BRCA2 mutations. We aimed the relative risks specific variants via a multicentre case-control study.
<h3>Abstract</h3> <h3>Objectives</h3> To develop and validate a genetic tool to predict age of onset aggressive prostate cancer (PCa) guide decisions who screen at what age. <h3>Design</h3> Analysis genotype, PCa status, select single nucleotide polymorphisms (SNPs) associated with diagnosis. These were incorporated into survival analysis estimate their effects on diagnosis (that is, not eligible for surveillance according National Comprehensive Cancer Network guidelines; any Gleason score...
The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 BRCA2 data support highly collaborative research activities. Its goal generate an informed current understanding of impact genetic variation on cancer risk across iconic predisposition genes, BRCA2. Initially, reported variants in available from public databases were integrated into single, newly created site, www.brcaexchange.org. purpose Exchange...