Rodney J. Scott
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View article: Implementing <scp><i>DPYD</i></scp> genotyping to predict chemotherapy toxicity in Australia: a feasibility study
Implementing <span><i>DPYD</i></span> genotyping to predict chemotherapy toxicity in Australia: a feasibility study Open
Background Implementing pharmacogenomic‐guided management in cancer patients equitably and effectively in a large population presents challenges. DPYD genotyping determines clinically significant variants of patients at increased risk of d…
View article: Blood and Serum Copper and Zinc Levels and 10-Year Survival of Patients After Kidney Cancer Diagnosis
Blood and Serum Copper and Zinc Levels and 10-Year Survival of Patients After Kidney Cancer Diagnosis Open
Background/Objectives: Copper (Cu) and zinc (Zn) are essential trace elements, and an imbalance in their levels may influence the progression of cancer. The role of Cu and Zn levels in blood and serum, as well as 10-year survival rates in …
View article: Tumour mutational burden using a targeted panel approach for comprehensive tumour profiling focusing on colorectal cancer
Tumour mutational burden using a targeted panel approach for comprehensive tumour profiling focusing on colorectal cancer Open
There is an increasing recognition that comprehensive tumour profiling (CTP) represents an important adjunct to the diagnosis of malignancy providing not only an assessment of how many mutations there are in any given tumour which reflects…
View article: Copper and Zinc Levels, Prevalence of Common Variants of Genes Involved in Their Metabolism and Psoriasis Disease
Copper and Zinc Levels, Prevalence of Common Variants of Genes Involved in Their Metabolism and Psoriasis Disease Open
Background: The pathogenesis of psoriasis is poorly understood. Increased reactive oxygen species (ROS) and lipid peroxidation are crucial in the inflammatory processes, including psoriasis. Thus, microelements, such as zinc and copper, ma…
View article: Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres Open
Breast cancer remains a significant global health challenge. In Australia, the adoption of publicly-funded multigene panel testing for eligible cancer patients has increased accessibility to personalised care, yet has also highlighted the …
View article: Blood and Serum Se and Zn Levels and 10-Year Survival of Patients after a Diagnosis of Kidney Cancer
Blood and Serum Se and Zn Levels and 10-Year Survival of Patients after a Diagnosis of Kidney Cancer Open
The aim of the project was to evaluate the association between selenium (Se) and zinc (Zn) levels in blood and serum and kidney cancer mortality. In a prospective group of 284 consecutive, unselected patients with kidney cancer, we evaluat…
View article: Cobalt Serum Level as a Biomarker of Cause-Specific Survival among Prostate Cancer Patients
Cobalt Serum Level as a Biomarker of Cause-Specific Survival among Prostate Cancer Patients Open
Prostate cancer is the most common cancer diagnosed in men and the second leading cause of death in male cancer patients. The WHO suggests that cobalt is involved in the carcinogenesis of prostate cancer. There are, however, no studies ass…
View article: Bipedalism or bipedalisms: The os coxae of StW 573
Bipedalism or bipedalisms: The os coxae of StW 573 Open
There has been a long debate about the possibility of multiple contemporaneous species of Australopithecus in both eastern and southern Africa, potentially exhibiting different forms of bipedal locomotion. Here, we describe the previously …
View article: Antioxidant Properties of Zinc and Copper—Blood Zinc-to Copper-Ratio as a Marker of Cancer Risk BRCA1 Mutation Carriers
Antioxidant Properties of Zinc and Copper—Blood Zinc-to Copper-Ratio as a Marker of Cancer Risk BRCA1 Mutation Carriers Open
Pathogenic mutations in BRCA1 (BReast CAncer gene 1) confer high risks of both breast (up to 70%) and ovarian (up to 40%) cancers. Zinc (Zn) and copper (Cu) are essential for various physiological functions, including antioxidant reactions…
View article: Evaluation of early fluoropyrimidine toxicity in solid organ cancer patients: a retrospective observational study in Australia
Evaluation of early fluoropyrimidine toxicity in solid organ cancer patients: a retrospective observational study in Australia Open
Background Despite common global usage, fluoropyrimidine (FP; 5‐flurouracil and capecitabine)‐related chemotherapy toxicity is poorly reported in the literature, with serious toxicity ranging from 10% to 40% and early toxicity (within 60 d…
View article: O-095 Assessment of genome editing outcomes in human preimplantation embryos subjected to CRISPR-Cas9 – most loss of heterozygosity (LOH) events are caused by DNA repair deficiency
O-095 Assessment of genome editing outcomes in human preimplantation embryos subjected to CRISPR-Cas9 – most loss of heterozygosity (LOH) events are caused by DNA repair deficiency Open
Study question What is the cause of loss of heterozygosity, frequently observed in embryos subjected to CRISPR-Cas9, an interhomolog-homologous recombination repair (IH-HR) or deficiency in DNA repair? Summary answer Vast majority of LOH o…
View article: Folate Metabolism and Risk of Childhood Acute Lymphoblastic Leukemia: A Genetic Pathway Analysis from the Childhood Cancer and Leukemia International Consortium
Folate Metabolism and Risk of Childhood Acute Lymphoblastic Leukemia: A Genetic Pathway Analysis from the Childhood Cancer and Leukemia International Consortium Open
Background: Prenatal folate supplementation has been consistently associated with a reduced risk of childhood acute lymphoblastic leukemia (ALL). Previous germline genetic studies examining the one carbon (folate) metabolism pathway were l…
View article: Blood Iodine as a Potential Marker of the Risk of Cancer in BRCA1 Carriers
Blood Iodine as a Potential Marker of the Risk of Cancer in BRCA1 Carriers Open
Breast cancer and ovarian cancer pose a significant risk for BRCA1 carriers, with limited risk-reduction strategies. While improved screening helps in the early detection of breast cancer, preventive measures remain elusive. Emerging evide…
View article: Blood molybdenum level as a marker of cancer risk among BRCA1 carriers
Blood molybdenum level as a marker of cancer risk among BRCA1 carriers Open
Purpose:A large proportion of ovarian and breast cancer cases are due to genetic predisposition. Women with a mutation in the BRCA1 gene have an up to an 80% chance of developing breast cancer and 40% chance of developing ovarian cancer. N…
View article: Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres Open
Breast cancer remains a significant global health challenge. In Australia, the adoption of publicly-funded multigene panel testing for eligible cancer patients has increased accessibility to personalised care, yet has also highlighted the …
View article: Zinc and Its Antioxidant Properties: The Potential Use of Blood Zinc Levels as a Marker of Cancer Risk in BRCA1 Mutation Carriers
Zinc and Its Antioxidant Properties: The Potential Use of Blood Zinc Levels as a Marker of Cancer Risk in BRCA1 Mutation Carriers Open
BRCA1 mutations predispose women to breast and ovarian cancer. The anticancer effect of zinc is typically linked to its antioxidant abilities and protecting cells against oxidative stress. Zinc regulates key processes in cancer development…
View article: Commentary: The pharmacogenomic landscape of an Indigenous Australian population
Commentary: The pharmacogenomic landscape of an Indigenous Australian population Open
This article is a commentary on: The pharmacogenomic landscape of an Indigenous Australian population Read original article
View article: Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel Open
Background It is known that gene- and disease-specific evidence domains can potentially improve the capability of the ACMG/AMP classification criteria to categorize pathogenicity for variants. We aimed to include gene–disease-specific clin…
View article: Selenium and Arsenic Levels, Prevalence of Common Variants of Genes Involved in Their Metabolism, and Psoriasis Disease
Selenium and Arsenic Levels, Prevalence of Common Variants of Genes Involved in Their Metabolism, and Psoriasis Disease Open
Using an Inductively Coupled Plasma Mass Spectrometer we measured the concentration of selenium and arsenic in serum and blood samples from 336 unselected psoriatic patients and 336 matched healthy controls to evaluate any associations wit…
View article: Cortical similarities in psychiatric and mood disorders identified in federated VBM analysis via COINSTAC
Cortical similarities in psychiatric and mood disorders identified in federated VBM analysis via COINSTAC Open
Structural neuroimaging studies have identified a combination of shared and disorder-specific patterns of gray matter (GM) deficits across psychiatric disorders. Pooling large data allows for examination of a possible common neuroanatomica…
View article: Blood Lead Level as Marker of Increased Risk of Ovarian Cancer in BRCA1 Carriers
Blood Lead Level as Marker of Increased Risk of Ovarian Cancer in BRCA1 Carriers Open
BRCA1 mutations substantially elevate the risks of breast and ovarian cancer. Various modifiers, including environmental factors, can influence cancer risk. Lead, a known carcinogen, has been associated with various cancers, but its impact…