David Mossman

Implementing DPYD genotyping to predict chemotherapy toxicity in Australia: a feasibility study

Cassandra White, Christine Louise Paul, Esther Liet, Dilshan Kalpage et autres

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 developing grade3-5 fluoropyrimidine (FP) toxicity. FP chemotherapies are prescribed for ~16,000 Australians with a …

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Tumour mutational burden using a targeted panel approach for comprehensive tumour profiling focusing on colorectal cancer

Rodney J. Scott, Andrew Ziolkowski, David Mossman, Michael Hipwell

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 the probability of immune checkpoint inhibitor …

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Certainty in uncertainty: Determining the rate and reasons for reclassification of variants of uncertain significance in haematological malignancies

Anoop Kumar Enjeti, Natasha Walker, Oliver Fahey, Elizabeth Johnston et autres

Introduction: Variants of uncertain significance (VUS) are commonly reported in cancer with the widespread adoption of diagnostic massive parallel sequencing. The rate of reclassification of VUS in patients with haematological malignancy is not known and we evaluated this retrospectively. We also investigated …

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Feasibility of DPYD Genotyping in Australian Cancer Patients

Cassandra White, Christine Louise Paul, Esther Liet, Dilshan Kalpage et autres

Abstract Background. Fluoropyrimidine (FP) chemotherapies are widely prescribed for solid organ malignancies, including colorectal, gastrointestinal, breast and head and neck cancers. They are prescribed for over 10,000 Australian cancer patients per year. Between 10-40% of patients experience serious (grade 3-5) toxicities that …

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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Emma Tudini, James DeWitt Andrews, David Lawrence, Sarah L. King‐Smith et autres

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Dihydropyrimidine Dehydrogenase Deficiency and Implementation of Upfront DPYD Genotyping

Cassandra White, Rodney J. Scott, Christine Louise Paul, Andrew Ziolkowski et autres

Fluoropyrimidines (FP; 5-fluorouracil, capecitabine, and tegafur) are a commonly prescribed class of antimetabolite chemotherapies, used for various solid organ malignancies in over 2 million patients globally per annum. Dihydropyrimidine dehydrogenase (DPD), encoded by the DPYD gene, is the critical enzyme implicated in …

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Microsatellite instability testing in MMR-deficient endometrial cancer: Are we using the right markers?

Katie A. Ashton, David Mossman, James Scurry, Andrew Ziolkowski et autres

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Ethnic Diversity of DPD Activity and the DPYD Gene: Review of the Literature

Cassandra White, Rodney J. Scott, Christine Louise Paul, Andrew Ziolkowski et autres

Abstract: Pharmacogenomic screening can identify patients with gene variants that predispose them to the development of severe toxicity from fluoropyrimidine (FP) chemotherapy. Deficiency of the critical metabolic enzyme dihydropyrimidine dehydrogenase (DPD) leads to excessive toxicity on exposure to fluoropyrimidine chemotherapy. This can …

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Global DNA methylation and cognitive and behavioral outcomes at 4 years of age: A cross‐sectional study

Rachael Taylor, Roger F. Smith, Clare Elizabeth Collins, David Mossman et autres

BACKGROUND: Accumulating evidence suggests that breastfeeding exclusivity and duration are positively associated with child cognition. This study investigated whether DNA methylation, an epigenetic mechanism modified by nutrient intake, may contribute to the link between breastfeeding and child cognition. The aim was to …

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Author response for "Global DNA methylation and cognitive and behavioral outcomes at 4 years of age: A cross-sectional study"

Rachael Taylor, Roger F. Smith, Clare E. Collins, David Mossman et autres

Methyl-Donor and Cofactor Nutrient Intakes in the First 2–3 Years and Global DNA Methylation at Age 4: A Prospective Cohort Study

Rachael Taylor, Roger F. Smith, Clare Elizabeth Collins, David Mossman et autres

Background: During the early postnatal period, the impact of nutrition on DNA methylation has not been well studied in humans. The aim was to quantify the relationship between one-carbon metabolism nutrient intake during the first three years of life and global DNA …

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Meeting abstracts from the Annual Conference on Hereditary Cancers 2015

Ella R. Thompson, Michelle W. Wong‐Brown, Simone M. Rowley, S Dooley et autres

Conclusions 1) The concentration of selenium in the blood may be a marker of occurrence of age-related cataracts.2) The low selenium levels may be a risk factor for age-related cataract in the Polish population Keywords selenium, age-related cataract

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