ORCID Profile
0000-0003-1593-6365
Current Organisations
Macquarie University
,
University of Technology Sydney
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Research Topics
In Research Link Australia (RLA), "Research Topics" refer to ANZSRC FOR and SEO codes. These topics are either sourced from ANZSRC FOR and SEO codes listed in researchers' related grants or generated by a large language model (LLM) based on their publications.
Top 5 Research Topics
ANZSRC Field of Research (FoR)
Early Childhood Education (excl. Māori) | Applied Linguistics and Educational Linguistics | Education Systems | Educational Psychology
ANZSRC Socio-Economic Objective (SEO)
Learner and Learning Achievement | Learner and Learning Processes | Pedagogy |
Related Links
Publications
Toddler-educator decontextualised talk and its value for toddlers’ learning
Publisher: Informa UK Limited
Date: 25-11-2022
Female hormonal factors and the risk of endometrial cancer in Lynch syndrome
Publisher: American Medical Association (AMA)
Date: 07-07-2015
High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry
Publisher: Springer Science and Business Media LLC
Date: 13-08-2014
Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome.
Publisher: Oxford University Press (OUP)
Date: 28-08-2012
DOI: 10.1093/JNCI/DJS351
Semiotic software through the lens of systemic functional theory
Publisher: Bloomsbury Academic
Date: 2022
Identification of a melanoma susceptibility locus and somatic mutation inTET2
Publisher: Oxford University Press (OUP)
Date: 30-06-2014
Semiotic technology and practice
Publisher: Walter de Gruyter GmbH
Date: 2014
Communication and Language Development in Early Childhood Education (Australia)
Publisher: Bloomsbury Publishing Plc
Date: 2019
Early‐life exposure to sibling modifies the relationship between CD14 polymorphisms and allergic sensitization
Publisher: Wiley
Date: 13-11-2018
DOI: 10.1111/CEA.13290
Abstract: Markers of microbial exposure are thought to be associated with risk of allergic sensitization however, the associations are inconsistent and may be related to gene-environment interactions. To examine the relationship between polymorphisms in the CD14 gene and allergic sensitization and whether sibling exposure, as a marker of microbial exposure, modified this relationship. We used data from the Tasmanian Longitudinal Health Study and the Melbourne Atopy Cohort Study. Two CD14 polymorphisms were genotyped. Allergic sensitization was defined by a positive response to a skin prick test. Sibling exposure was measured as cumulative exposure to siblings before age 6 months, 2 and 4 years. Logistic regression and multi-level mixed-effects logistic regression were used to examine the associations. Effect estimates across the cohorts were pooled using random-effects meta-analysis. CD14 SNPs were not in idually associated with allergic sensitization in either cohort. In TAHS, cumulative sibling exposure before age 6 months, 2 and 4 years was each associated with a reduced risk of allergic sensitization at age 45 years. A similar effect was observed in MACS. Meta-analysis across the two cohorts showed consistent evidence of an interaction between cumulative sibling exposure before 6 months and the rs5744455-SNP (P = 0.001) but not with the rs2569190-SNP (P = 0.60). The pooled meta-analysis showed that the odds of sensitization with increasing cumulative exposure to sibling before 6 months of age was 20.9% smaller in those with the rs5744455-C-allele than the T-allele (OR = 0.83 vs 1.05, respectively). Cumulative sibling exposure reduced the risk of sensitization from childhood to middle age in genetically susceptible in iduals.
MC1R genotype as a predictor of early-onset melanoma, compared with self-reported and physician-measured traditional risk factors: An Australian case-control-family study
Publisher: Springer Science and Business Media LLC
Date: 04-09-2013
Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK
Publisher: BMJ
Date: 15-02-2011
Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer
Publisher: Elsevier BV
Date: 03-2005
DOI: 10.1016/S1542-3565(04)00673-1
Abstract: Recently, an alternative pathway of tumorigenesis has been identified in the colorectum associated with serrated precursor lesions, variable levels of microsatellite instability (MSI-V), and driven in part by activating mutations in the BRAF proto-oncogene (V599E). Somatic BRAF mutations in hereditary nonpolyposis colon cancer (HNPCC) are rarely observed. Here, we discuss their role in the development of other familial colorectal cancers (CRC). We studied non-FAP, non-HNPCC CRC families characterized by tumors that varied in their level of MSI between in idual members. A subset of tumors from a total of 55 collected (25 polyps and 30 cancers) from 43 in iduals across 11 families underwent pathology review, examination for V599E using allele-specific polymerase chain reaction, and for methylation of the MINT31 CpG island. All MSI-V families met the current revised Bethesda Guidelines and 6 of 11 (55%) met the Amsterdam I criteria. V599E was observed in 12 of 19 (63%) polyps and 14 of 20 (70%) cancers (4 of 4 high MSI, 2 of 4 low MSI, and 8 of 12 stable MSI), a significant increase over HNPCC (0 of 15 or 0%), and unselected CRC (30 of 197 or 15.2%) ( P < .05). Eight of the 10 (80%) cancers that underwent analysis showed hypermethylation of MINT31. CRCs showed early age at onset and were more likely to show a serrated architecture than unselected CRCs ( P < .05). These data provide evidence that the families described here represent a syndrome of familial CRC that is distinct from HNPCC. High levels of BRAF mutation and MINT31 hypermethylation suggest an origin in the serrated pathway of CRC development.
Benefits, Harms, and Cost-Effectiveness of Potential Age Extensions to the National Bowel Cancer Screening Program in Australia
Publisher: American Association for Cancer Research (AACR)
Date: 12-2018
DOI: 10.1158/1055-9965.EPI-18-0128
Abstract: The Australian National Bowel Cancer Screening Program (NBCSP) is rolling out 2-yearly immunochemical fecal occult blood test screening in people aged 50 to 74 years. This study aimed to evaluate the benefits, harms, and cost-effectiveness of extending the NBCSP to younger and/or older ages. A comprehensive validated microsimulation model, Policy1-Bowel, was used to simulate the fully rolled-out NBCSP and alternative strategies assuming screening starts at 40 or 45 years and/or ceases at 79 or 84 years given three scenarios: (i) perfect adherence (100%), (ii) high adherence (60%), and (ii) low adherence (40%, as currently achieved). The current NBCSP will reduce colorectal cancer incidence (mortality) by 23% to 51% (36% to 74%) compared with no screening (range reflects participation) extending screening to younger or older ages would result in additional reductions of 2 to 6 (2 to 9) or 1 to 3 (3 to 7) percentage points, respectively. With an indicative willingness-to-pay threshold of A$50,000/life-year saved (LYS), only screening from 50 to 74 years [incremental cost-effective ratio (ICER): A$2,984–5,981/LYS) or from 45 to 74 years (ICER: A$17,053–29,512/LYS) remained cost-effective in all participation scenarios. The number-needed-to-colonoscope to prevent a death over the lifetime of a cohort in the current NBCSP is 35 to 49. Starting screening at 45 years would increase colonoscopy demand for program-related colonoscopies by 3% to 14% and be associated with 55 to 170 additional colonoscopies per additional death prevented. Starting screening at 45 years could be cost-effective, but it would increase colonoscopy demand and would be associated with a less favorable incremental benefits-to-harms trade-off than screening from 50 to 74 years. The study underpins recently updated Australian colorectal cancer management guidelines that recommend that the NBCSP continues to offer bowel screening from 50 to 74 years.
Heritable DNA methylation marks associated with susceptibility to breast cancer
Publisher: Springer Science and Business Media LLC
Date: 28-02-2018
DOI: 10.1038/S41467-018-03058-6
Abstract: Mendelian-like inheritance of germline DNA methylation in cancer susceptibility genes has been previously reported. We aimed to scan the genome for heritable methylation marks associated with breast cancer susceptibility by studying 25 Australian multiple-case breast cancer families. Here we report genome-wide DNA methylation measured in 210 peripheral blood DNA s les provided by family members using the Infinium HumanMethylation450. We develop and apply a new statistical method to identify heritable methylation marks based on complex segregation analysis. We estimate carrier probabilities for the 1000 most heritable methylation marks based on family structure, and we use Cox proportional hazards survival analysis to identify 24 methylation marks with corresponding carrier probabilities significantly associated with breast cancer. We replicate an association with breast cancer risk for four of the 24 marks using an independent nested case–control study. Here, we report a novel approach for identifying heritable DNA methylation marks associated with breast cancer risk.
Table 2 from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk
Publisher: American Association for Cancer Research (AACR)
Date: 08-2023
DOI: 10.1158/0008-5472.23814632
Abstract: Summary of G × BMI analyses using 1DF, two-step, and 3DF analyses.
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report
Publisher: Springer Science and Business Media LLC
Date: 10-10-2017
Risks of Colorectal and Other Cancers After Endometrial Cancer for Women With Lynch Syndrome
Publisher: Oxford University Press (OUP)
Date: 02-2013
DOI: 10.1093/JNCI/DJS525
Van Leeuwen, Theo
Publisher: Wiley
Date: 05-11-2013
DOI: 10.1002/9781405198431.WBEAL1248
Abstract: Theo van Leeuwen (1947– ) is a cofounder, alongside Gunther Kress, of multimodality as a discipline within applied linguistics, education, and media and cultural studies.
Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene
Publisher: Springer Science and Business Media LLC
Date: 23-07-2015
Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery
Publisher: BMJ
Date: 30-12-2010
Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1
Publisher: Elsevier BV
Date: 08-2018
DOI: 10.1038/GIM.2017.185
Multimodality and software
Publisher: Wiley
Date: 05-11-2013
DOI: 10.1002/9781405198431.WBEAL0834
Abstract: In its broadest sense, the term “software“ contrasts to “hardware“ and applies to any computer features that cannot be physically manipulated. This includes features invisible to the average computer user such as algorithms, text files written by programmers in source code, and their translations into computer‐executable, binary, code.
Genome-wide association study identifies novel breast cancer susceptibility loci
Publisher: Springer Science and Business Media LLC
Date: 28-06-2007
DOI: 10.1038/NATURE05887
The Routledge Handbook of Critical Discourse Studies
Publisher: Routledge
Date: 06-07-2017
Accuracy of self-reported nevus and pigmentation phenotype compared with clinical assessment in a population-based study of young Australian Adults
Publisher: American Association for Cancer Research (AACR)
Date: 31-03-2015
DOI: 10.1158/1055-9965.EPI-14-1203
Abstract: Background: Awareness of in idual risk may encourage improved prevention and early detection of melanoma. Methods: We evaluated the accuracy of self-reported pigmentation and nevus phenotype compared with clinical assessment, and examined agreement between nevus counts from selected anatomical regions. The s le included 456 cases with invasive cutaneous melanoma diagnosed between ages 18 to 39 years and 538 controls from the population-based Australian Melanoma Family Study. Participants completed a questionnaire about their pigmentation and nevus phenotype, and attended a dermatologic skin examination. Results: There was strong agreement between self-reported and clinical assessment of eye color [κ, = 0.78 95% confidence interval (CI), 0.74–0.81] and moderate agreement for hair color (κ = 0.46 95% CI, 0.42–0.50). Agreement between self-reported skin color and spectrophotometer-derived measurements was poor (κ = 0.12 95% CI, 0.08–0.16) to moderate (Spearman correlation rs = −0.37 95% CI, −0.32 to −0.42). Participants tended to underestimate their nevus counts and pigmentation men were more likely to underreport their skin color. The rs was 0.43 (95% CI, 0.38–0.49) comparing clinical total body nevus counts with self-reported nevus categories. There was good agreement between total body nevus counts and site-specific nevus counts, particularly on both arms. Conclusions: Young adults have suboptimal accuracy when assessing important risk characteristics including nevus numbers and pigmentation. Measuring nevus count on the arms is a good predictor of full body nevus count. Impact: These results have implications for the likely success of targeted public health programs that rely on self-assessment of these factors. Cancer Epidemiol Biomarkers Prev 24(4) 736–43. ©2015 AACR.
Risk of Colorectal Cancer for Carriers of Mutations in MUTYH, With and Without a Family History of Cancer
Publisher: Elsevier BV
Date: 05-2014
“I want my children to become global citizens”
Publisher: John Benjamins Publishing Company
Date: 04-07-2023
Abstract: Increasing globalisation has spurred a flow of migrants worldwide. These movements include exchanges of migrants’ linguistic repertoires across regions, transforming the ways in which they define themselves in a multilingual society. Unlike identity categories such as ethnic identity, the contested concept of citizenship identity has remained underexplored in heritage language (HL) research. Focusing on Korean migrant families in Australia, this study extends the limited knowledge about the roles of citizenship in HL maintenance across different generations. Specifically, drawing on interviews with six Korean-speaking parents and their children, this study compares the ways in which migrant parents and their primary and secondary school-aged children relate a HL to their citizenship status. Thematic analysis reveals that while HL-speaking children tend to associate their language with national or ethnic identities, migrant parents are more likely to identify their children as global citizens whose HL competencies are essential for their future career and economic advantage. The study contributes to scholarship at the intersection of HL, citizenship, and globalisation.
An inverse stage-shift model to estimate the excess mortality and health economic impact of delayed access to cancer services due to the COVID-19 pandemic
Publisher: Wiley
Date: 10-02-2021
DOI: 10.1111/AJCO.13505
Abstract: Decreased cancer incidence and reported changes to clinical management indicate that the COVID‐19 pandemic has delayed cancer diagnosis and treatment. This study aimed to develop and apply a flexible model to estimate the impact of delayed diagnosis and treatment on survival outcomes and healthcare costs based on a shift in the disease stage at treatment initiation. A model was developed and made publicly available to estimate population‐level health economic outcomes by extrapolating and weighing stage‐specific outcomes by the distribution of stages at treatment initiation. It was applied to estimate the impact of 3‐ and 6‐month delays based on Australian data for stage I breast cancer, colorectal cancer, and lung cancer patients, and for T1 melanoma. Two approaches were explored to estimate stage shifts following a delay: (a) based on the relation between time to treatment initiation and overall survival (breast, colorectal, and lung cancer), and (b) based on the tumor growth rate (melanoma). Using a conservative once‐off 3‐month delay and considering only shifts from stage I/T1 to stage II/T2, 88 excess deaths and $12 million excess healthcare costs were predicted in Australia over 5 years for all patients diagnosed in 2020. For a 6‐month delay, excess mortality and healthcare costs were 349 deaths and $46 million over 5 years. The health and economic impacts of delays in treatment initiation cause an imminent policy concern. More accurate in idual patient data on shifts in stage of disease during and after the COVID‐19 pandemic are critical for further analyses.
Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22
Publisher: Public Library of Science (PLoS)
Date: 31-05-2012
Germline mutations inPMS2andMLH1in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort
Publisher: BMJ
Date: 02-2016
Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas
Publisher: Springer Science and Business Media LLC
Date: 14-06-2017
The television title sequence: a visual analysis of Flight of the Conchords.
Publisher: Routledge
Date: 23-09-2013
Images as a Resource for Supporting Vocabulary Learning: A Multimodal Analysis of Thai EFL Tablet Apps for Primary School Children
Publisher: Wiley
Date: 02-11-2015
DOI: 10.1002/TESQ.274
Population-based, case-control-family design to investigate genetic and environmental influences on melanoma risk
Publisher: Oxford University Press (OUP)
Date: 03-11-2009
DOI: 10.1093/AJE/KWP307
Should the grading of colorectal adenocarcinoma include microsatellite instability status?
Publisher: Elsevier BV
Date: 10-2014
DOI: 10.1016/J.HUMPATH.2014.06.020
Abstract: Adenocarcinomas of the colon and rectum are graded using a 2-tiered system into histologic low-grade and high-grade tumors based on the proportion of gland formation. The current grading system does not apply to subtypes of carcinomas associated with a high frequency of microsatellite instability (MSI), such as mucinous and medullary carcinomas. We investigated the combined effect of histologic grade and MSI status on survival for 738 patients with colorectal carcinoma (48% female mean age at diagnosis 68.2 years). The proportion of high-grade adenocarcinoma was 18%. MSI was observed in 59 adenocarcinomas (9%), with higher frequency in high-grade tumors compared with low-grade tumors (20% versus 6% P < .001). Using Cox regression models, adjusting for sex and age at diagnosis and stratifying by the American Joint Committee on Cancer stage, microsatellite stable (MSS) high-grade tumors were associated with increased hazard of all-cause and colorectal cancer-specific mortality: hazard ratio 2.09 (95% confidence interval [CI], 1.58-2.77) and 2.54 (95% CI, 1.86-3.47), respectively, both P < .001. A new grading system separating adenocarcinoma into low grade (all histologic low grade and MSI high grade) and high grade (MSS histologic high grade) gave a lower Akaike information criterion value when compared with the current grading system and thus represented a better model fit to stratify patients according to survival. We found that patients with a high-grade adenocarcinoma had significantly shorter survival than patients with low-grade adenocarcinoma only if the tumor was MSS, suggesting that the grading of colorectal adenocarcinoma with high-grade histologic features should be made according to the MSI status of the tumor.
Supplementary Data from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk
Publisher: American Association for Cancer Research (AACR)
Date: 08-2023
DOI: 10.1158/0008-5472.23814641
Abstract: supplementary materials
Bilingualism and multilingualism in early childhood education (Australia)
Publisher: Bloomsbury Publishing Plc
Date: 2019
Fertility after young-onset colorectal cancer: A study of subjects with Lynch syndrome
Publisher: Wiley
Date: 08-08-2015
DOI: 10.1111/CODI.12940
Investigating the genetic relationship between Alzheimer’s disease and cancer using GWAS summary statistics
Publisher: Springer Science and Business Media LLC
Date: 05-08-2017
Multimodality in Practice
Publisher: Routledge
Date: 22-05-2012
Multivitamin, calcium and folic acid supplements and the risk of colorectal cancer in Lynch syndrome
Publisher: Oxford University Press (OUP)
Date: 10-04-2016
DOI: 10.1093/IJE/DYW036
Genomic characterization of upper-tract urothelial carcinoma in patients with Lynch syndrome
Publisher: American Society of Clinical Oncology (ASCO)
Date: 11-2018
DOI: 10.1200/PO.17.00143
Abstract: Patients with Lynch syndrome (LS) have a significantly increased risk of developing upper-tract urothelial carcinoma (UTUC). Here, we sought to identify differences in the patterns of mutational changes in LS-associated versus sporadic UTUCs. We performed targeted sequencing of 17 UTUCs from patients with documented LS-associated germline mutations (LS-UTUCs) using the Memorial Sloan Kettering Integrated Molecular Profiling of Actionable Cancer Targets targeted exon capture assay and compared the results with those from a recently characterized cohort of 82 patients with sporadic UTUC. Patients with LS-UTUC were significantly younger, had had less exposure to tobacco, and more often presented with a ureteral primary site compared with patients with sporadic UTUC. The median number of mutations per tumor was significantly greater in LS-UTUC tumors than in tumors from the sporadic cohort (58 interquartile range [IQR], 47-101 v 6 IQR, 4-10 P .001), as was the MSIsensor score (median, 25.1 IQR, 17.9-31.2 v 0.03 IQR, 0-0.44 P .001). Differences in the genetic landscape were observed between sporadic and LS-associated tumors. Alterations in KMT2D, CREBBP, or ARID1A or in DNA damage response and repair genes were present at a significantly higher frequency in LS-UTUC. CIC, NOTCH1, NOTCH3, RB1, and CDKN1B alterations were almost exclusive to LS-UTUC. Although FGFR3 mutations were identified in both cohorts, the R248C hotspot mutation was highly enriched in LS-UTUC. LS- and sporadic UTUCs have overlapping but distinct genetic signatures. LS-UTUC is associated with hypermutation and a significantly higher prevalence of FGFR3 R248C mutation. Prospective molecular characterization of patients to identify those with LS-UTUC may help guide treatment.
Risk of Metachronous Colon Cancer Following Surgery for Rectal Cancer in Mismatch Repair Gene Mutation Carriers
Publisher: Springer Science and Business Media LLC
Date: 29-01-2013
Evaluation of the benefits, harms and cost‐effectiveness of potential alternatives to iFOBT testing for colorectal cancer screening in Australia
Publisher: Wiley
Date: 08-03-2018
DOI: 10.1002/IJC.31314
Abstract: The Australian National Bowel Cancer Screening Program (NBCSP) will fully roll-out 2-yearly screening using the immunochemical Faecal Occult Blood Testing (iFOBT) in people aged 50 to 74 years by 2020. In this study, we aimed to estimate the comparative health benefits, harms, and cost-effectiveness of screening with iFOBT, versus other potential alternative or adjunctive technologies. A comprehensive validated microsimulation model, Policy1-Bowel, was used to simulate a total of 13 screening approaches involving use of iFOBT, colonoscopy, sigmoidoscopy, computed tomographic colonography (CTC), faecal DNA (fDNA) and plasma DNA (pDNA), in people aged 50 to 74 years. All strategies were evaluated in three scenarios: (i) perfect adherence, (ii) high (but imperfect) adherence, and (iii) low adherence. When assuming perfect adherence, the most effective strategies involved using iFOBT (annually, or biennially with/without adjunct sigmoidoscopy either at 50, or at 54, 64 and 74 years for in iduals with negative iFOBT), or colonoscopy (10-yearly, or once-off at 50 years combined with biennial iFOBT). Colorectal cancer incidence (mortality) reductions for these strategies were 51-67(74-80)% in comparison with no screening 2-yearly iFOBT screening (i.e. the NBCSP) would be associated with reductions of 51(74)%. Only 2-yearly iFOBT screening was found to be cost-effective in all scenarios in context of an indicative willingness-to-pay threshold of A$50,000/life-year saved (LYS) this strategy was associated with an incremental cost-effectiveness ratio of A$2,984/LYS-A$5,981/LYS (depending on adherence). The fully rolled-out NBCSP is highly cost-effective, and is also one of the most effective approaches for bowel cancer screening in Australia.
Asthma, Asthma Medications, and Prostate Cancer Risk
Publisher: American Association for Cancer Research (AACR)
Date: 09-2010
DOI: 10.1158/1055-9965.EPI-10-0381
Abstract: Background: The aim of this study was to assess whether a history of asthma or the use of asthma medications is associated with prostate cancer risk. Methods: Of 16,934 men participating in the Melbourne Collaborative Cohort Study, 1,179 were diagnosed with prostate cancer during an average follow-up of 13.4 years to the end of December 2007. Information on asthma history was obtained at baseline interview. Participants were asked to bring their current medications to the study center. The names of the drugs were entered into a form and coded. Asthma medications were categorized into four groups and corresponding hazard ratios (HR) were estimated from Cox regression models adjusted for country of birth. Results: Asthma was associated with a small increase in prostate cancer risk [HR 1.25 95% confidence interval (95% CI), 1.05-1.49]. The HRs for use of medications were 1.39 (95% CI, 1.03-1.88) for inhaled glucocorticoids, 1.71 (95% CI, 1.08-2.69) for systemic glucocorticoids, 1.36 (95% CI, 1.05-1.76) for bronchodilators, and 0.78 (95% CI, 0.45-1.35) for antihistamines. The HRs for asthma and asthma medication use changed only slightly after mutual adjustment. Conclusions: A history of asthma and the use of asthma medications, particularly systemic glucocorticoids, are associated with an increased risk of prostate cancer, although it is difficult to disentangle the effects of asthma medications from those of asthma per se. Impact: These findings, if confirmed in independent studies, might lead to the identification of new risk factors for prostate cancer. Cancer Epidemiol Biomarkers Prev 19(9) 2318–24. ©2010 AACR.
Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: A prospective cohort study
Publisher: American Society of Clinical Oncology (ASCO)
Date: 20-03-2012
Abstract: To determine whether cancer risks for carriers and noncarriers from families with a mismatch repair (MMR) gene mutation are increased above the risks of the general population. We prospectively followed a cohort of 446 unaffected carriers of an MMR gene mutation (MLH1, n = 161 MSH2, n = 222 MSH6, n = 47 and PMS2, n = 16) and 1,029 their unaffected relatives who did not carry a mutation every 5 years at recruitment centers of the Colon Cancer Family Registry. For comparison of cancer risk with the general population, we estimated country-, age-, and sex-specific standardized incidence ratios (SIRs) of cancer for carriers and noncarriers. Over a median follow-up of 5 years, mutation carriers had an increased risk of colorectal cancer (CRC SIR, 20.48 95% CI, 11.71 to 33.27 P .001), endometrial cancer (SIR, 30.62 95% CI, 11.24 to 66.64 P .001), ovarian cancer (SIR, 18.81 95% CI, 3.88 to 54.95 P .001), renal cancer (SIR, 11.22 95% CI, 2.31 to 32.79 P .001), pancreatic cancer (SIR, 10.68 95% CI, 2.68 to 47.70 P = .001), gastric cancer (SIR, 9.78 95% CI, 1.18 to 35.30 P = .009), urinary bladder cancer (SIR, 9.51 95% CI, 1.15 to 34.37 P = .009), and female breast cancer (SIR, 3.95 95% CI, 1.59 to 8.13 P = .001). We found no evidence of their noncarrier relatives having an increased risk of any cancer, including CRC (SIR, 1.02 95% CI, 0.33 to 2.39 P = .97). We confirmed that carriers of an MMR gene mutation were at increased risk of a wide variety of cancers, including some cancers not previously recognized as being a result of MMR mutations, and found no evidence of an increased risk of cancer for their noncarrier relatives.
Education versus care for infants and toddlers: the Australian early childhood challenge
Publisher: Informa UK Limited
Date: 16-10-2021
Risk of endometrial cancer for women diagnosed with HNPCC-related colorectal carcinoma
Publisher: Wiley
Date: 07-06-2010
DOI: 10.1002/IJC.25501
Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome.
Publisher: Public Library of Science (PLoS)
Date: 10-02-2011
Aspirin, Ibuprofen, and the Risk for Colorectal Cancer in Lynch Syndrome
Publisher: Oxford University Press (OUP)
Date: 24-06-2015
DOI: 10.1093/JNCI/DJV170
Cancer Risks for PMS2-Associated Lynch Syndrome
Publisher: American Society of Clinical Oncology (ASCO)
Date: 10-10-2018
Abstract: Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum. However, the age-specific cumulative risk (penetrance) of these cancers is still poorly defined for PMS2-associated Lynch syndrome. Using a large data set from a worldwide collaboration, our aim was to determine accurate penetrance measures of cancers for carriers of heterozygous pathogenic PMS2 variants. A modified segregation analysis was conducted that incorporated both genotyped and nongenotyped relatives, with conditioning for ascertainment to estimates corrected for bias. Hazard ratios (HRs) and corresponding 95% CIs were estimated for each cancer site for mutation carriers compared with the general population, followed by estimation of penetrance. In total, 284 families consisting of 4,878 first- and second-degree family members were included in the analysis. PMS2 mutation carriers were at increased risk for colorectal cancer (cumulative risk to age 80 years of 13% [95% CI, 7.9% to 22%] for males and 12% [95% CI, 6.7% to 21%] for females) and endometrial cancer (13% [95% CI, 7.0%–24%]), compared with the general population (6.6%, 4.7%, and 2.4%, respectively). There was no clear evidence of an increased risk of ovarian, gastric, hepatobiliary, bladder, renal, brain, breast, prostate, or small bowel cancer. Heterozygous PMS2 mutation carriers were at small increased risk for colorectal and endometrial cancer but not for any other Lynch syndrome–associated cancer. This finding justifies that PMS2-specific screening protocols could be restricted to colonoscopies. The role of risk-reducing hysterectomy and bilateral salpingo-oophorectomy for PMS2 mutation carriers needs further discussion.
SNP rs16906252C>T Is an Expression and Methylation Quantitative Trait Locus Associated with an Increased Risk of Developing MGMT-Methylated Colorectal Cancer
Publisher: American Association for Cancer Research (AACR)
Date: 15-12-2016
DOI: 10.1158/1078-0432.CCR-15-2765
Abstract: Purpose: Methylation of the MGMT promoter is the major cause of O6-methylguanine methyltransferase deficiency in cancer and has been associated with the T variant of the promoter enhancer SNP rs16906252C& T. We sought evidence for an association between the rs16906252C& T genotype and increased risk of developing a subtype of colorectal cancer featuring MGMT methylation, mediated by genotype-dependent epigenetic silencing within normal tissues. Experimental Design: By applying a molecular pathologic epidemiology case–control study design, associations between rs16906252C& T and risk for colorectal cancer overall, and colorectal cancer stratified by MGMT methylation status, were estimated using multinomial logistic regression in two independent retrospective series of colorectal cancer cases and controls. The test s le comprised 1,054 colorectal cancer cases and 451 controls from Sydney, Australia. The validation s le comprised 612 colorectal cancer cases and 245 controls from the Australasian Colon Cancer Family Registry (ACCFR). To determine whether rs16906252C& T was linked to a constitutively altered epigenetic state, quantitative allelic expression and methylation analyses were performed in normal tissues. Results: An association between rs16906252C& T and increased risk of developing MGMT-methylated colorectal cancer in the Sydney s le was observed [OR, 3.3 95% confidence interval (CI), 2.0–5.3 P & 0.0001], which was replicated in the ACCFR s le (OR, 4.0 95% CI, 2.4–6.8 P & 0.0001). The T allele demonstrated about 2.5-fold reduced transcription in normal colorectal mucosa from cases and controls and was selectively methylated in a minority of normal cells, indicating that rs16906252C& T represents an expression and methylation quantitative trait locus. Conclusions: We provide evidence that rs16906252C& T is associated with elevated risk for MGMT-methylated colorectal cancer, likely mediated by constitutive epigenetic repression of the T allele. Clin Cancer Res 22(24) 6266–77. ©2016 AACR.
“Church is like a mini Korea”: the potential of migrant religious organisations for promoting heritage language maintenance
Publisher: Walter de Gruyter GmbH
Date: 10-01-2023
DOI: 10.1515/APPLIREV-2022-0052
Abstract: Immigration from erse countries of origin has brought to Australia a great linguistic ersity. Moving to Australia, many migrant communities tend to shift from their heritage languages (HLs) and shift to English. Korean migrant communities, however, buck this trend. Notable within the Korean communities are ethnic church congregations, which offer social networks to maintain Korean identity. Focusing on the Korean communities in Australia, this study extends the limited knowledge about the potential of migrant religious organisations to promote HL maintenance. Specifically, drawing on data from 300 surveys collected from parents and semi-structured interviews with eight parents and their children, this study compares experiences of HL maintenance among families who attend a Korean church with those who do not. A key finding is that families affiliated with a Korean church are more likely to prioritise HL learning, practise the language and be proficient in the language than those who are not. Additionally, participants in this study reported that Korean churches provide valuable opportunities for HL learning. This study contributes to an understanding of the intertwined dynamics of migration, religion and language.
Data from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk
Publisher: American Association for Cancer Research (AACR)
Date: 08-2023
DOI: 10.1158/0008-5472.C.6769316
Abstract: Abstract Colorectal cancer risk can be impacted by genetic, environmental, and lifestyle factors, including diet and obesity. Gene-environment interactions (G × E) can provide biological insights into the effects of obesity on colorectal cancer risk. Here, we assessed potential genome-wide G × E interactions between body mass index (BMI) and common SNPs for colorectal cancer risk using data from 36,415 colorectal cancer cases and 48,451 controls from three international colorectal cancer consortia (CCFR, CORECT, and GECCO). The G × E tests included the conventional logistic regression using multiplicative terms (one degree of freedom, 1DF test), the two-step EDGE method, and the joint 3DF test, each of which is powerful for detecting G × E interactions under specific conditions. BMI was associated with higher colorectal cancer risk. The two-step approach revealed a statistically significant G×BMI interaction located within the Formin 1/Gremlin 1 ( i FMN1/GREM1 /i ) gene region (rs58349661). This SNP was also identified by the 3DF test, with a suggestive statistical significance in the 1DF test. Among participants with the CC genotype of rs58349661, overweight and obesity categories were associated with higher colorectal cancer risk, whereas null associations were observed across BMI categories in those with the TT genotype. Using data from three large international consortia, this study discovered a locus in the i FMN1/GREM1 /i gene region that interacts with BMI on the association with colorectal cancer risk. Further studies should examine the potential mechanisms through which this locus modifies the etiologic link between obesity and colorectal cancer. Significance: This gene-environment interaction analysis revealed a genetic locus in FMN1/GREM1 that interacts with body mass index in colorectal cancer risk, suggesting potential implications for precision prevention strategies. /
Cohort Profile: The Tasmanian Longitudinal Health STUDY (TAHS)
Publisher: Oxford University Press (OUP)
Date: 06-06-2017
DOI: 10.1093/IJE/DYW028
Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH
Publisher: Wiley
Date: 02-06-2016
DOI: 10.1002/IJC.30197
Risks of lynch syndrome cancers for msh6 mutation carriers
Publisher: Oxford University Press (OUP)
Date: 03-02-2010
DOI: 10.1093/JNCI/DJP473
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre–Chotzen syndrome: An Australian multicenter study
Publisher: Wiley
Date: 16-04-2009
DOI: 10.1002/GCC.20661
Abstract: Saethre-Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported an increased risk of breast cancer in in iduals with a clinical diagnosis of SCS. Because of the potential importance of this finding, we organized a multicenter study enrolling people with TWIST1 mutation confirmed SCS to determine if an increased risk of cancer is present. This study did not identify any cases of breast or ovarian cancer in a cohort of equivalent power to that reported previously. These results provide clinical reassurance that at present there is no evidence for breast cancer screening above standard practice for in iduals with SCS.
Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers
Publisher: American Association for Cancer Research (AACR)
Date: 03-2017
DOI: 10.1158/1055-9965.EPI-16-0496
Abstract: Background: People with germline mutation in one of the DNA mismatch repair (MMR) genes have increased colorectal cancer risk. For these high-risk people, study findings of the relationship between alcohol consumption and colorectal cancer risk have been inconclusive. Methods: 1,925 MMR gene mutations carriers recruited into the Colon Cancer Family Registry who had completed a questionnaire on lifestyle factors were included. Weighted Cox proportional hazard regression models were used to estimate hazard ratios (HR) and 95% confidence intervals (CI) for the association between alcohol consumption and colorectal cancer. Results: Colorectal cancer was diagnosed in 769 carriers (40%) at a mean (SD) age of 42.6 (10.3) years. Compared with abstention, ethanol consumption from any alcoholic beverage up to 14 g/day and & g/day was associated with increased colorectal cancer risk (HR, 1.50 95% CI, 1.09–2.07 and 1.69 95% CI, 1.07–2.65, respectively Ptrend = 0.05), and colon cancer risk (HR, 1.78 95% CI, 1.27–2.49 and 1.94 95% CI, 1.19–3.18, respectively Ptrend = 0.02). However, there was no clear evidence for an association with rectal cancer risk. Also, there was no evidence for associations between consumption of in idual alcoholic beverage types (beer, wine, spirits) and colorectal, colon, or rectal cancer risk. Conclusions: Our data suggest that alcohol consumption, particularly more than 28 g/day of ethanol (∼2 standard drinks of alcohol in the United States), is associated with increased colorectal cancer risk for MMR gene mutation carriers. Impact: Although these data suggested that alcohol consumption in MMR carriers was associated with increased colorectal cancer risk, there was no evidence of a dose-response, and not all types of alcohol consumption were associated with increased risk. Cancer Epidemiol Biomarkers Prev 26(3) 366–75. ©2016 AACR.
Associations of alcohol intake, smoking, physical activity and obesity with survival following colorectal cancer diagnosis by stage, anatomic site and tumor molecular subtype
Publisher: Wiley
Date: 04-10-2017
DOI: 10.1002/IJC.31049
Abstract: The influence of lifestyle factors on survival following a diagnosis of colorectal cancer (CRC) is not well established. We examined associations between lifestyle factors measured before diagnosis and CRC survival. The Melbourne Collaborative Cohort Study collected data on alcohol intake, cigarette smoking and physical activity, and body measurements at baseline (1990-1994) and wave 2 (2003-2007). We included participants diagnosed to 31 August 2015 with incident stages I-III CRC within 10-years post exposure assessment. Information on tumor characteristics and vital status was obtained. Tumor DNA was tested for microsatellite instability (MSI) and somatic mutations in oncogenes BRAF (V600E) and KRAS. We estimated hazard ratios (HRs) for associations between lifestyle factors and overall and CRC-specific mortality using Cox regression. Of 724 eligible CRC cases, 339 died (170 from CRC) during follow-up (average 9.0 years). Exercise (non-occupational/leisure-time) was associated with higher CRC-specific survival for stage II (HR = 0.25, 95% CI: 0.10-0.60) but not stages I/III disease (p for interaction = 0.01), and possibly for colon and KRAS wild-type tumors. Waist circumference was inversely associated with CRC-specific survival (HR = 1.25 per 10 cm increment, 95% CI: 1.08-1.44), independent of stage, anatomic site and tumor molecular status. Cigarette smoking was associated with lower overall survival, with suggestive evidence of worse survival for BRAF mutated CRC, but not with CRC-specific survival. Alcohol intake was not associated with survival. Survival did not differ by MSI status. We have identified pre-diagnostic predictors of survival following CRC that may have clinical and public health relevance.
Molecular Characterization and Cancer Risk Associated with BRCA1 and BRCA2 Splice Site Variants Identified in Multiple-Case Breast Cancer Families
Publisher: Hindawi Limited
Date: 06-03-2014
DOI: 10.1002/HUMU.22526
Annexin A1 expression in a pooled breast cancer series: association with tumor subtypes and prognosis
Publisher: Springer Science and Business Media LLC
Date: 02-07-2015
Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts
Publisher: Wiley
Date: 02-2017
DOI: 10.1111/JGH.13468
Early-life sun exposure and risk of melanoma before age 40 years
Publisher: Springer Science and Business Media LLC
Date: 07-04-2011
DOI: 10.1007/S10552-011-9762-3
Abstract: To examine associations between early-life sun exposure and risk of invasive cutaneous melanoma diagnosed between ages 18 and 39 years. Data were analysed from 606 cases and 481 controls from the Australian Melanoma Family Study, a population-based, case-control-family study. Self- and parent-reported sun exposure was collected by interview. Odds ratios (OR) were estimated using unconditional logistic regression, adjusted for potential confounders. Self-reported childhood total sun exposure was not associated with melanoma overall, but was positively associated with melanoma diagnosed at 18-29 years of age (OR for highest vs. lowest quartile: 3.21, 95% confidence intervals (CI) 1.38-7.44 P (trend) 0.02 P (interaction) by age group 0.09). Analyses restricted to participants whose self-reported sun exposure was concordant with that recalled by their parents gave an OR for the highest versus lowest tertile of childhood total sun exposure of 2.28 (95% CI 1.03-5.04 P (trend) 0.05), and for any versus no severe childhood sunburn of 2.36 (95% CI 1.05-5.31). The association of self-reported severe sunburn with melanoma was evident only in people who tended to tan rather than burn and in people who had few nevi. The association of early-life sun exposure with early-onset melanoma is influenced by host factors.
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling
Publisher: Wiley
Date: 25-09-2006
DOI: 10.1002/GCC.20381
Abstract: Mutations in ATM are responsible for the autosomal recessive disorder ataxia telangiectasia. Heterozygous mutations in ATM have been associated with an elevated risk of breast cancer. We previously reported one breast cancer family in which ATM 7271T>G (V2424G) segregated with disease, and apparently acted in a dominant negative manner. We now report the screening of 782 multiple-case breast cancer families that identified two additional index cases with ATM 7271T>G. Phylogenetic sequence analysis showed that V2424 is a highly conserved residue, and that the 2424G variant is likely to interfere with function. To elucidate the consequences of this mutation, we expression profiled wild-type, heterozygous, and homozygous lymphoblastoid cell lines (LCLs) from Scottish and Australian families using an oligonucleotide microarray. Cluster analysis revealed 77 genes that were differentially expressed in homozygous and heterozygous V2424G cells (compared to wild-type) and 11 genes differentially expressed in the homozygous cells. We also evaluated the profiles of LCLs after exposure to ionizing radiation (IR) and identified 77 genes that were differentially expressed in wild-type cells, but not in homozygous or heterozygous V2424G cells. We validated the expression differences by RT-PCR in additional heterozygous V2424G LCLs from another breast cancer family. We found no consistent cytotoxicity or abrogation of ATM kinase activity after IR in seven heterozygous V2424G LCLs, compared to wild-type LCLs, but did find an increase in the number of chromosomal aberrations. These data suggest that the V2424G missense mutation acts largely as a dominant negative in terms of the associated expression profiles.
Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants
Publisher: BMJ
Date: 27-05-2005
Homologous recombination DNA repair defects in PALB2-associated breast cancers
Publisher: Springer Science and Business Media LLC
Date: 08-08-2019
DOI: 10.1038/S41523-019-0115-9
Abstract: Mono-allelic germline pathogenic variants in the Partner And Localizer of BRCA2 ( PALB2 ) gene predispose to a high-risk of breast cancer development, consistent with the role of PALB2 in homologous recombination (HR) DNA repair. Here, we sought to define the repertoire of somatic genetic alterations in PALB2 -associated breast cancers (BCs), and whether PALB2 -associated BCs display bi-allelic inactivation of PALB2 and/or genomic features of HR-deficiency (HRD). Twenty-four breast cancer patients with pathogenic PALB2 germline mutations were analyzed by whole-exome sequencing (WES, n = 16) or targeted capture massively parallel sequencing (410 cancer genes, n = 8). Somatic genetic alterations, loss of heterozygosity (LOH) of the PALB2 wild-type allele, large-scale state transitions (LSTs) and mutational signatures were defined. PALB2 -associated BCs were found to be heterogeneous at the genetic level, with PIK3CA (29%), PALB2 (21%), TP53 (21%), and NOTCH3 (17%) being the genes most frequently affected by somatic mutations. Bi-allelic PALB2 inactivation was found in 16 of the 24 cases (67%), either through LOH ( n = 11) or second somatic mutations ( n = 5) of the wild-type allele. High LST scores were found in all 12 PALB2 -associated BCs with bi-allelic PALB2 inactivation sequenced by WES, of which eight displayed the HRD-related mutational signature 3. In addition, bi-allelic inactivation of PALB2 was significantly associated with high LST scores. Our findings suggest that the identification of bi-allelic PALB2 inactivation in PALB2 -associated BCs is required for the personalization of HR-directed therapies, such as platinum salts and/or PARP inhibitors, as the vast majority of PALB2 -associated BCs without PALB2 bi-allelic inactivation lack genomic features of HRD.
Occupational sun exposure and risk of melanoma according to anatomical site.
Publisher: Wiley
Date: 29-11-2013
DOI: 10.1002/IJC.28603
Fertility and apparent genetic anticipation in Lynch syndrome
Publisher: Springer Science and Business Media LLC
Date: 28-03-2014
Comparison of the pandemic H1N1 2009 experience in the Southern Hemisphere with pandemic expectations
Publisher: Elsevier BV
Date: 08-2012
Social media as semiotic technology and social practice: the case of ResearchGate’s design and its potential to transform social practice
Publisher: Informa UK Limited
Date: 28-08-2018
Trends in sub-daily precipitation in Tasmania using regional dynamically downscaled climate projections
Publisher: Elsevier BV
Date: 04-2017
Advancing Multimodal and Critical Discourse Studies
Publisher: Routledge
Date: 08-09-2017
Sunbed use during adolescence and early adulthood is associated with increased risk of early-onset melanoma
Publisher: Wiley
Date: 28-07-2011
DOI: 10.1002/IJC.25576
Abstract: Sunbed use is associated with increased risk of melanoma. Younger people might be more susceptible to the carcinogenic effects of ultraviolet radiation. We investigated the association between sunbed use and risk of early‐onset cutaneous malignant melanoma. From the Australian Melanoma Family Study, a multicentre, population‐based, case‐control‐family study, we analysed data for 604 cases diagnosed between ages 18 and 39 years and 479 controls. Data were collected by interview. Associations were estimated as odds ratios (ORs) using unconditional logistic regression, adjusting for age, sex, city, education, family history, skin color, usual skin response to sunlight and sun exposure. Compared with having never used a sunbed, the OR for melanoma associated with ever‐use was 1.41 (95% confidence interval (CI) 1.01–1.96), and 2.01 (95% CI 1.22–3.31) for more than 10 lifetime sessions ( P trend 0.01 with cumulative use). The association was stronger for earlier age at first use ( P trend 0.02). The association was also stronger for melanoma diagnosed when aged 18–29 years (OR for more than 10 lifetime sessions = 6.57, 95% CI 1.41–30.49) than for melanoma diagnosed when 30–39 years (OR 1.60, 95% CI 0.92–2.77 P interaction 0.01). Among those who had ever used a sunbed and were diagnosed between 18 and 29 years of age, three quarters (76%) of melanomas were attributable to sunbed use. Sunbed use is associated with increased risk of early‐onset melanoma, with risk increasing with greater use, an earlier age at first use and for earlier onset disease.
Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome
Publisher: Wiley
Date: 04-06-2019
DOI: 10.1002/MGG3.781
Predictive genetic testing of a bone marrow recipient-ethical issues involving unexpected results, gender issues, test accuracy, and implications for the donor
Publisher: Wiley
Date: 30-08-2014
DOI: 10.1007/S10897-013-9643-X
Abstract: We present a case where an apparently straightforward Lynch syndrome predictive genetic test of DNA from a blood s le from a woman yielded an unexpected result of X/Y chromosome imbalance. Furthermore, it demonstrates the complexities of genetic testing in people who have had bone marrow transplants. This highlights the potential for multiple ethical and counselling challenges, including the inadvertent testing of the donor. Good communication between clinics and laboratories is essential to overcome such challenges and to minimise the provision of false results.
Data from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk
Publisher: American Association for Cancer Research (AACR)
Date: 08-2023
DOI: 10.1158/0008-5472.C.6769316.V1
Abstract: Abstract Colorectal cancer risk can be impacted by genetic, environmental, and lifestyle factors, including diet and obesity. Gene-environment interactions (G × E) can provide biological insights into the effects of obesity on colorectal cancer risk. Here, we assessed potential genome-wide G × E interactions between body mass index (BMI) and common SNPs for colorectal cancer risk using data from 36,415 colorectal cancer cases and 48,451 controls from three international colorectal cancer consortia (CCFR, CORECT, and GECCO). The G × E tests included the conventional logistic regression using multiplicative terms (one degree of freedom, 1DF test), the two-step EDGE method, and the joint 3DF test, each of which is powerful for detecting G × E interactions under specific conditions. BMI was associated with higher colorectal cancer risk. The two-step approach revealed a statistically significant G×BMI interaction located within the Formin 1/Gremlin 1 ( i FMN1/GREM1 /i ) gene region (rs58349661). This SNP was also identified by the 3DF test, with a suggestive statistical significance in the 1DF test. Among participants with the CC genotype of rs58349661, overweight and obesity categories were associated with higher colorectal cancer risk, whereas null associations were observed across BMI categories in those with the TT genotype. Using data from three large international consortia, this study discovered a locus in the i FMN1/GREM1 /i gene region that interacts with BMI on the association with colorectal cancer risk. Further studies should examine the potential mechanisms through which this locus modifies the etiologic link between obesity and colorectal cancer. Significance: This gene-environment interaction analysis revealed a genetic locus in FMN1/GREM1 that interacts with body mass index in colorectal cancer risk, suggesting potential implications for precision prevention strategies. /
Supplementary Data from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk
Publisher: American Association for Cancer Research (AACR)
Date: 08-2023
DOI: 10.1158/0008-5472.23814641.V1
Abstract: supplementary materials
Second language writing systems
Publisher: Oxford University Press (OUP)
Date: 30-04-2007
Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis
Publisher: Springer Science and Business Media LLC
Date: 30-01-2020
DOI: 10.1038/S41467-020-14389-8
Abstract: Physical activity has been associated with lower risks of breast and colorectal cancer in epidemiological studies however, it is unknown if these associations are causal or confounded. In two-s le Mendelian randomisation analyses, using summary genetic data from the UK Biobank and GWA consortia, we found that a one standard deviation increment in average acceleration was associated with lower risks of breast cancer (odds ratio [OR]: 0.51, 95% confidence interval [CI]: 0.27 to 0.98, P-value = 0.04) and colorectal cancer (OR: 0.66, 95% CI: 0.48 to 0.90, P-value = 0.01). We found similar magnitude inverse associations for estrogen positive (ER +ve ) breast cancer and for colon cancer. Our results support a potentially causal relationship between higher physical activity levels and lower risks of breast cancer and colorectal cancer. Based on these data, the promotion of physical activity is probably an effective strategy in the primary prevention of these commonly diagnosed cancers.
Morphological predictors of BRCA1 germline mutations in young women with breast cancer
Publisher: Springer Science and Business Media LLC
Date: 22-02-2011
DOI: 10.1038/BJC.2011.41
Table 1 from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk
Publisher: American Association for Cancer Research (AACR)
Date: 08-2023
DOI: 10.1158/0008-5472.23814635.V1
Abstract: Selected characteristics of the participants.
Physical activity and the risk of colorectal cancer in Lynch syndrome
Publisher: Wiley
Date: 07-08-2018
DOI: 10.1002/IJC.31611
David Byrne really does love PowerPoint
Publisher: Informa UK Limited
Date: 06-2013
Children’s comprehension of time in audiovisual narratives: A multimodal discourse and empirical approach
Publisher: Elsevier BV
Date: 02-2023
Re: Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication.
Publisher: Oxford University Press (OUP)
Date: 11-08-2014
DOI: 10.1093/JNCI/DJU180
Evaluating a children’s television show as a vehicle for learning about historical artefacts: the value of multimodal discourse analysis
Publisher: Informa UK Limited
Date: 13-04-2022
The construal of English as a global language in Korean EFL textbooks for primary school children
Publisher: Informa UK Limited
Date: 18-06-2019
Parity and decreased use of oral contraceptives as predictors of asthma in young women
Publisher: Wiley
Date: 29-03-2006
DOI: 10.1111/J.1365-2222.2006.02475.X
Abstract: Asthma is more prevalent among males in childhood, but females report higher rates in adulthood. The reasons are unknown although it has been hypothesized that hormonal factors may explain this sex-dependent risk of adult-onset asthma. To determine whether a woman's reproductive history or use of oral contraceptives is associated with adult-onset asthma. In 1991-1993, we surveyed 681 women aged 29-32 years randomly s led from participants first surveyed at age 7 years by the 1968 Tasmanian Asthma Survey, a study of all children born in 1961 and attending school. Current asthma was defined as reporting asthma or wheezy breathing in the past 12 months. In women who did not have asthma or wheezy breathing by age 7 years, 13% had current asthma. The risk of current asthma in these who were parous increased with the number of births (odds ratio (OR) 1.50 per birth, 95% confidence interval (CI) 1.01-2.23 P=0.04) while women with one birth were at a lower risk than nulliparous women (OR 0.46 95% CI 0.2-1.06, P=0.07). Independent of parity, the risk decreased by 7% (95% CI 0-13%) per year of oral contraceptive pill use in all women. In women who did have asthma or wheezy breathing by age 7 years, neither reproductive history nor oral contraceptive pill use predicted current asthma. Our observation that parity and decreased oral contraceptive use predict asthma in women, is consistent with the hypothesis that the asthma that develops after childhood is in part a response to endogenous and exogenous female hormones. This may be due to alterations of cytokine responses by the pregnant state, triggering adult-onset asthma in women.
Cancer screening in Australia: future directions in melanoma, Lynch syndrome, and liver, lung and prostate cancers
Publisher: The Sax Institute
Date: 2019
DOI: 10.17061/PHRP2921910
Abstract: While Australia now has well-established national screening programs for breast, bowel and cervical cancers, research continues into the feasibility of developing systematic screening programs for a number of other cancers. In this paper, experts in their fields provide perspectives on the current state of play and future directions for screening and surveillance for melanoma, Lynch syndrome, and liver, lung and prostate cancers in Australia. Although the evidence does not support population screening, there may be opportunities to prevent thousands of deaths through systematic approaches to the early detection of lung cancer and melanoma, testing for Lynch syndrome, and organised surveillance for hepatocellular carcinoma among in iduals at high risk - guided by targeted research. The paper also looks at what impact new prostate specific antigen testing guidelines are having on screening for prostate cancer.
Lynch syndrome and cervical cancer
Publisher: Wiley
Date: 14-07-2015
DOI: 10.1002/IJC.29641
The semiotics of texture
Publisher: SAGE Publications
Date: 14-10-2011
Abstract: The term ‘texture’ is often applied beyond the tactile, to describe visual and aural qualities. While tactile, visual and aural texture have been studied separately in various fields, the relationships between them remain largely unexplored. To address this gap, this article proposes parameters for describing tactile surface texture and visual texture, and compares their meaning-making potential. The authors argue that, as new technologies increasingly limit the role of tactile experience and expand the importance of the visual, there is a growing need to study the influence of ubiquitous technologies on our use and understanding of the semiotic potential of resources such as texture. They hypothesize about this influence by reviewing the presentation of texture as a fill option for shapes and backgrounds in Microsoft PowerPoint for Windows from 1992 to 2007.
Table 2 from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk
Publisher: American Association for Cancer Research (AACR)
Date: 08-2023
DOI: 10.1158/0008-5472.23814632.V1
Abstract: Summary of G × BMI analyses using 1DF, two-step, and 3DF analyses.
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma†
Publisher: Oxford University Press (OUP)
Date: 17-09-2011
DOI: 10.1093/HMG/DDR415
2.2 Interpreting Websites in Educational Contexts: A Social-Semiotic, Multimodal Approach
Publisher: Springer Netherlands
Date: 26-11-2014
Supporting multilingual development in early childhood education: A scoping review
Publisher: Elsevier BV
Date: 2021
Reading aloud as performance and its representation on television programmes for children
Publisher: Informa UK Limited
Date: 02-06-2016
Cancer risks for MLH1 and MSH2 mutation carriers
Publisher: Hindawi Limited
Date: 03-2013
DOI: 10.1002/HUMU.22262
Family history of colorectal cancer in BRAF p.V600emutated colorectal cancer cases
Publisher: American Association for Cancer Research (AACR)
Date: 05-2013
DOI: 10.1158/1055-9965.EPI-12-1211
Abstract: Background: Previous reports suggest that relatives of colorectal cancer (CRC)-affected probands carrying the BRAF p.V600E mutation are at an increased risk of CRC and extracolonic cancers (ECC). In this study, we estimated the association between a family history of either CRC or ECC and risk of CRC with a BRAF p.V600E mutation. Methods: Population-based CRC cases (probands, ages 18–59 years at diagnosis), recruited irrespective of family cancer history, were characterized for BRAF p.V600E mutation and mismatch repair (MMR) status. ORs and 95% confidence intervals (CI) were estimated using multivariable logistic regression. Results: The 690 eligible probands showed a mean age at CRC diagnosis of 46.9 ± 7.8 years, with 313 (47.9%) reporting a family history of CRC and 53 (7.7%) that were BRAF-mutated. Probands with BRAF-mutated, MMR-proficient CRCs were less likely to have a family history of CRC than probands that were BRAF wild-type (OR, 0.46 95% CI, 0.24–0.91 P = 0.03). For probands with a BRAF-mutated CRC, the mean age at diagnosis was greater for those with a CRC-affected first- or second-degree relative (49.3 ± 6.4 years) compared with those without a family history (43.8 ± 10.2 years P = 0.04). The older the age at diagnosis of CRC with the BRAF p.V600E mutation, the more likely these probands were to show a family history of CRC (OR, 1.09 per year of age 95% CI, 1.00–1.18 P = 0.04). Conclusions: Probands with early-onset, BRAF-mutated, and MMR-proficient CRC were less likely to have a family history of CRC than probands that were BRAF-wild-type. Impact: These findings provide useful insights for cancer risk assessment in families and suggest that familial or inherited factors are more important in early-onset, BRAF-wild-type CRC. Cancer Epidemiol Biomarkers Prev 22(5) 917–26. ©2013 AACR.
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
Publisher: Springer Science and Business Media LLC
Date: 13-11-2011
DOI: 10.1038/NATURE10630
Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer
Publisher: Public Library of Science (PLoS)
Date: 02-06-2011
Harnessing the potential of transmedia narratives for critical multimodal literacy
Publisher: Informa UK Limited
Date: 24-03-2021
Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom
Publisher: Springer Science and Business Media LLC
Date: 20-11-2014
Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations
Publisher: Public Library of Science (PLoS)
Date: 09-02-2018
Development and external validation study of a melanoma risk prediction model incorporating clinically assessed naevi and solar lentigines
Publisher: Oxford University Press (OUP)
Date: 22-09-2020
DOI: 10.1111/BJD.18411
Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers
Publisher: Elsevier BV
Date: 02-2012
Teachers' Speech and Gestures in Primary EFL Classrooms Using Tablet Technology: A Critical Multimodal Comparison of Pedagogic Discourse
Publisher: Routledge
Date: 09-12-2021
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Publisher: Elsevier BV
Date: 2020
The CRISP colorectal cancer risk prediction tool: an exploratory study using simulated consultations in Australian primary care
Publisher: Springer Science and Business Media LLC
Date: 19-01-2017
Shared heritability and functional enrichment across six solid cancers
Publisher: Springer Science and Business Media LLC
Date: 25-01-2019
DOI: 10.1038/S41467-018-08054-4
Abstract: Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer ( r g = 0.57, p = 4.6 × 10 −8 ), breast and ovarian cancer ( r g = 0.24, p = 7 × 10 −5 ), breast and lung cancer ( r g = 0.18, p =1.5 × 10 −6 ) and breast and colorectal cancer ( r g = 0.15, p = 1.1 × 10 −4 ). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis.
Everyday acts of social-semiotic inquiry
Publisher: Routledge
Date: 30-09-2022
Assessment of a Polygenic Risk Score for Colorectal Cancer to Predict Risk of Lynch Syndrome Colorectal Cancer
Publisher: Oxford University Press (OUP)
Date: 08-03-2021
Abstract: It was not known whether the polygenic risk scores (PRSs) that predict colorectal cancer could predict colorectal cancer for people with inherited pathogenic variants in DNA mismatch repair genes—people with Lynch syndrome. We tested a PRS comprising 107 established single-nucleotide polymorphisms associated with colorectal cancer in European populations for 826 European-descent carriers of pathogenic variants in DNA mismatch repair genes (293 MLH1, 314 MSH2, 126 MSH6, 71 PMS2, and 22 EPCAM) from the Colon Cancer Family Registry, of whom 504 had colorectal cancer. There was no evidence of an association between the PRS and colorectal cancer risk, irrespective of which DNA mismatch repair gene was mutated, or sex (all 2-sided P & .05). The hazard ratio per standard deviation of the PRS for colorectal cancer was 0.97 (95% confidence interval = 0.88 to 1.06 2-sided P = .51). Whereas PRSs are predictive of colorectal cancer in the general population, they do not predict Lynch syndrome colorectal cancer.
Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?
Publisher: Elsevier BV
Date: 05-2013
Notes towards a semiotics of kinetic typography
Publisher: Informa UK Limited
Date: 15-03-2015
A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk
Publisher: American Association for Cancer Research (AACR)
Date: 30-05-2023
DOI: 10.1158/0008-5472.CAN-22-3713
Abstract: This gene-environment interaction analysis revealed a genetic locus in FMN1/GREM1 that interacts with body mass index in colorectal cancer risk, suggesting potential implications for precision prevention strategies.
Discussions about predictive genetic testing for Lynch syndrome: the role of health professionals and families in decisions to decline
Publisher: Springer Science and Business Media LLC
Date: 20-02-2018
Reading and Reinterpreting Picture Books on Children’s Television: Implications for Young Children’s Narrative Literacy
Publisher: Springer Science and Business Media LLC
Date: 02-09-2016
Family history–based colorectal cancer screening in Australia: A modelling study of the costs, benefits, and harms of different participation scenarios
Publisher: Public Library of Science (PLoS)
Date: 16-08-2018
Multimodality and hypermedia
Publisher: Wiley
Date: 05-11-2013
DOI: 10.1002/9781405198431.WBEAL0826
Abstract: No longer reserved for hypertext that includes sound or video, nowadays the term “hypermedia“ refers to any hypertext featuring both typographic and non‐typographic elements and has become interchangeable with the term “hypertext.“ Hypertext consists of nodes and hyperlinks.
Assessing the ProMCol classifier as a prognostic marker for non-metastatic colorectal cancer within the Melbourne Collaborative Cohort Study
Publisher: BMJ
Date: 24-03-2019
RAD51B in Familial Breast Cancer
Publisher: Public Library of Science (PLoS)
Date: 05-05-2016
Children’s experiences with a transmedia narrative: Insights for promoting critical multimodal literacy in the digital age
Publisher: Elsevier BV
Date: 10-2021
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Publisher: Elsevier BV
Date: 06-2018
Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history
Publisher: Springer Science and Business Media LLC
Date: 17-06-2019
The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations
Publisher: Elsevier BV
Date: 08-2008
Associations of pigmentary and naevus phenotype with melanoma risk in two populations with comparable ancestry but contrasting levels of ambient sun exposure
Publisher: Wiley
Date: 07-06-2019
DOI: 10.1111/JDV.15680
Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis
Publisher: Springer Science and Business Media LLC
Date: 25-02-2009
Cancer Risk Management Practices of Noncarriers WithinBRCA1/2Mutation–Positive Families in the Kathleen Cuningham Foundation Consortium for Research Into Familial Breast Cancer
Publisher: American Society of Clinical Oncology (ASCO)
Date: 10-01-2008
Abstract: Women from BRCA mutation–positive families who do not carry the family-specific mutation are generally at average cancer risk and therefore do not require intensive risk management. Participants were female noncarriers from BRCA mutation–positive families who had responded to 3 yearly follow-up questionnaires and had chosen to either receive or not receive their genetic test result. In the former group, undertaking mammography younger than age 40 years or more than once every 2 years, clinical breast examination (CBE) more than yearly, breast self-examination (BSE) more than monthly, or any transvaginal ultrasound (TVU) or CA-125 was considered overscreening. Screening behaviors of women who did and did not know their genetic test result were compared. Logistic regression and nonparametric analyses were performed to identify demographic and psychosocial factors (respectively) associated with overscreening. Of 325 eligible women, 116 knew their mutation status and 209 did not. For the first group, proportions overscreening were mammography, 53% CBE, 10% BSE, 11% TVU, 7% and CA-125, 10%. There were no significant differences in screening behaviors between the groups. In those aware of their mutation status, parous women were more likely to overuse mammography (odds ratio [OR] = 4.4 95% CI, 1.1 to 17 P = .03) and women with one or more first-degree relative with ovarian cancer (OC) were more likely to overuse OC screening (TVU: OR = 6.00 95% CI, 1.0 to 35.1 P = .047, and CA-125: OR = 6.50 95% CI, 1.49 to 28.4 P = .013). The reasons for overuse of screening (particularly mammography) by mutation noncarriers require additional elucidation given the potential for harm.
The Impact of a Comprehensive Risk Prediction Model for Colorectal Cancer on a Population Screening Program
Publisher: Oxford University Press (OUP)
Date: 18-07-2020
Abstract: In many countries, population colorectal cancer (CRC) screening is based on age and family history, though more precise risk prediction could better target screening. We examined the impact of a CRC risk prediction model (incorporating age, sex, lifestyle, genomic, and family history factors) to target screening under several feasible screening scenarios. We estimated the model’s predicted CRC risk distribution in the Australian population. Predicted CRC risks were categorized into screening recommendations under 3 proposed scenarios to compare with current recommendations: 1) highly tailored, 2) 3 risk categories, and 3) 4 sex-specific risk categories. Under each scenario, for 35- to 74-year-olds, we calculated the number of CRC screens by immunochemical fecal occult blood testing (iFOBT) and colonoscopy and the proportion of predicted CRCs over 10 years in each screening group. Currently, 1.1% of 35- to 74-year-olds are recommended screening colonoscopy and 56.2% iFOBT, and 5.7% and 83.2% of CRCs over 10 years were predicted to occur in these groups, respectively. For the scenarios, 1) colonoscopy was recommended to 8.1% and iFOBT to 37.5%, with 36.1% and 50.1% of CRCs in each group 2) colonoscopy was recommended to 2.4% and iFOBT to 56.0%, with 13.2% and 76.9% of cancers in each group and 3) colonoscopy was recommended to 5.0% and iFOBT to 54.2%, with 24.5% and 66.5% of cancers in each group. A highly tailored CRC screening scenario results in many fewer screens but more cancers in those unscreened. Category-based scenarios may provide a good balance between number of screens and cancers detected and are simpler to implement.
Meta-Analysis Combining New and Existing Data Sets Confirms that the TERT-CLPTM1L Locus Influences Melanoma Risk
Publisher: Elsevier BV
Date: 02-2012
DOI: 10.1038/JID.2011.322
Body Mass Index in Early Adulthood and Endometrial Cancer Risk for Mismatch Repair Gene Mutation Carriers
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 04-2011
Sunscreen use and melanoma risk among young Australian adults
Publisher: American Medical Association (AMA)
Date: 09-2018
Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies
Publisher: Elsevier BV
Date: 12-2018
BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer
Publisher: Springer Science and Business Media LLC
Date: 11-12-1999
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
Publisher: BMJ
Date: 28-07-2017
DOI: 10.1136/GUTJNL-2017-314057
Abstract: Most patients with path_MMR gene variants (Lynch syndrome (LS)) now survive both their first and subsequent cancers, resulting in a growing number of older patients with LS for whom limited information exists with respect to cancer risk and survival. This observational, international, multicentre study aimed to determine prospectively observed incidences of cancers and survival in path_MMR carriers up to 75 years of age. 3119 patients were followed for a total of 24 475 years. Cumulative incidences at 75 years (risks) for colorectal cancer were 46%, 43% and 15% in path_ MLH1 , path_ MSH2 and path_ MSH6 carriers for endometrial cancer 43%, 57% and 46% for ovarian cancer 10%, 17% and 13% for upper gastrointestinal (gastric, duodenal, bile duct or pancreatic) cancers 21%, 10% and 7% for urinary tract cancers 8%, 25% and 11% for prostate cancer 17%, 32% and 18% and for brain tumours 1%, 5% and 1%, respectively. Ovarian cancer occurred mainly premenopausally. By contrast, upper gastrointestinal, urinary tract and prostate cancers occurred predominantly at older ages. Overall 5-year survival for prostate cancer was 100%, urinary bladder 93%, ureter 85%, duodenum 67%, stomach 61%, bile duct 29%, brain 22% and pancreas 0%. Path_PMS2 carriers had lower risk for cancer. Carriers of different path_MMR variants exhibit distinct patterns of cancer risk and survival as they age. Risk estimates for counselling and planning of surveillance and treatment should be tailored to each patient’s age, gender and path_MMR variant. We have updated our open-access website www.lscarisk.org to facilitate this.
Trends in Colon and Rectal Cancer Incidence in Australia from 1982 to 2014: Analysis of Data on Over 375,000 Cases
Publisher: American Association for Cancer Research (AACR)
Date: 2019
DOI: 10.1158/1055-9965.EPI-18-0523
Abstract: Colorectal cancer is the third most commonly diagnosed cancer in Australia. Emerging evidence from several countries suggests increasing incidence in people aged & years. We assessed colon and rectal cancer incidence trends in people aged 20+ in Australia from 1982 to 2014. We used data on 375,008 incident cases (248,162 colon and 126,846 rectal). We quantified the annual percentage change (APC) in rates by age group using Joinpoint regression. For people aged & years, colon cancer rates increased from the mid-2000s, with the increase in APCs ranging from 1.7% to 9.3% per annum (depending on specific age group) rectal cancer rates increased from the early 1990s, with APCs ranging from 0.9% to 7.1% per annum. For people aged 50 to 69 years, colon and rectal cancer rates decreased from the mid-1990s, with the decrease in APCs in specific age groups ranging from 0.8% to 4.8% per annum (except for colon cancer in those ages 65 to 69 years, where similar rate decreases were observed from 2007). An overall reduction in older persons (& years) was estimated at 1.9% to 4.9% per annum for colon cancer from 2010 onward and 1.1% to 1.8% per annum in rectal cancer from the early 2000s onward. Colon and rectal cancer incidence has increased in people aged & years in Australia over the last two decades. However, colon and rectal cancer rates decreased in people aged 50+, likely due to de facto and organized bowel cancer screening. Further research is needed to examine the cause of the increase and to quantify the impact of future trends on the cost-effectiveness of population-based screening for those & years.
The Colorectal cancer RISk Prediction (CRISP) trial: a randomised controlled trial of a decision support tool for risk-stratified colorectal cancer screening
Publisher: Royal College of General Practitioners
Date: 23-01-2023
Abstract: A risk-stratified approach to colorectal cancer (CRC) screening could result in a more acceptable balance of benefits and harms, and be more cost-effective. To determine the effect of a consultation in general practice using a computerised risk assessment and decision support tool (Colorectal cancer RISk Prediction, CRISP) on risk-appropriate CRC screening. Randomised controlled trial in 10 general practices in Melbourne, Australia, from May 2017 to May 2018. Participants were recruited from a consecutive s le of patients aged 50–74 years attending their GP. Intervention consultations included CRC risk assessment using the CRISP tool and discussion of CRC screening recommendations. Control group consultations focused on lifestyle CRC risk factors. The primary outcome was risk-appropriate CRC screening at 12 months. A total of 734 participants (65.1% of eligible patients) were randomised (369 intervention, 365 control) the primary outcome was determined for 722 (362 intervention, 360 control). There was a 6.5% absolute increase (95% confidence interval [CI] = −0.28 to 13.2) in risk-appropriate screening in the intervention compared with the control group (71.5% versus 65.0% odds ratio [OR] 1.36, 95% CI = 0.99 to 1.86, P = 0.057). In those due CRC screening during follow-up, there was a 20.3% (95% CI = 10.3 to 30.4) increase (intervention 59.8% versus control 38.9% OR 2.31, 95% CI = 1.51 to 3.53, P .001) principally by increasing faecal occult blood testing in those at average risk. A risk assessment and decision support tool increases risk-appropriate CRC screening in those due screening. The CRISP intervention could commence in people in their fifth decade to ensure people start CRC screening at the optimal age with the most cost-effective test.
Risk factors for metachronous colorectal cancer following a primary colorectal cancer: A prospective cohort study
Publisher: Wiley
Date: 09-05-2016
DOI: 10.1002/IJC.30153
Development and external validation of a melanoma risk prediction model based on self-assessed risk factors
Publisher: American Medical Association (AMA)
Date: 08-2016
DOI: 10.1001/JAMADERMATOL.2016.0939
Abstract: Identifying in iduals at high risk of melanoma can optimize primary and secondary prevention strategies. To develop and externally validate a risk prediction model for incident first-primary cutaneous melanoma using self-assessed risk factors. We used unconditional logistic regression to develop a multivariable risk prediction model. Relative risk estimates from the model were combined with Australian melanoma incidence and competing mortality rates to obtain absolute risk estimates. A risk prediction model was developed using the Australian Melanoma Family Study (629 cases and 535 controls) and externally validated using 4 independent population-based studies: the Western Australia Melanoma Study (511 case-control pairs), Leeds Melanoma Case-Control Study (960 cases and 513 controls), Epigene-QSkin Study (44 544, of which 766 with melanoma), and Swedish Women's Lifestyle and Health Cohort Study (49 259 women, of which 273 had melanoma). We validated model performance internally and externally by assessing discrimination using the area under the receiver operating curve (AUC). Additionally, using the Swedish Women's Lifestyle and Health Cohort Study, we assessed model calibration and clinical usefulness. The risk prediction model included hair color, nevus density, first-degree family history of melanoma, previous nonmelanoma skin cancer, and lifetime sunbed use. On internal validation, the AUC was 0.70 (95% CI, 0.67-0.73). On external validation, the AUC was 0.66 (95% CI, 0.63-0.69) in the Western Australia Melanoma Study, 0.67 (95% CI, 0.65-0.70) in the Leeds Melanoma Case-Control Study, 0.64 (95% CI, 0.62-0.66) in the Epigene-QSkin Study, and 0.63 (95% CI, 0.60-0.67) in the Swedish Women's Lifestyle and Health Cohort Study. Model calibration showed close agreement between predicted and observed numbers of incident melanomas across all deciles of predicted risk. In the external validation setting, there was higher net benefit when using the risk prediction model to classify in iduals as high risk compared with classifying all in iduals as high risk. The melanoma risk prediction model performs well and may be useful in prevention interventions reliant on a risk assessment using self-assessed risk factors.
Ethnicity and risk for colorectal cancers showing somatic BRAF V600E mutation or CpG island methylator phenotype
Publisher: American Association for Cancer Research (AACR)
Date: 07-2008
DOI: 10.1158/1055-9965.EPI-08-0091
Abstract: Colorectal cancers arising from serrated polyps are characterized by the CpG island methylator phenotype (CIMP) and somatic mutation (V600E) in the BRAF proto-oncogene. Few epidemiologic studies have investigated risk factors for these tumors. We conducted a cohort study of 41,328 residents of Melbourne, Australia that included 9,939 participants of southern European origin and 31,389 of Anglo-Celtic origin. Colorectal adenocarcinomas were identified from population-based cancer registries. BRAF V600E mutation in tumors was determined using a PCR-based allelic discrimination method. Tumors were classified as CIMP positive when at least three of five markers (RUNX3, CACNA1G, SOCS1, NEUROG1, and IGF2) were methylated according to MethyLight analysis. Hazard ratios (HR) and 95% confidence intervals (95% CI) were estimated by Cox regression with adjustment for risk factors for colorectal cancer. During follow-up, 718 participants were diagnosed with colorectal cancer. CIMP assays were done for 579 and BRAF V600E mutation testing for 582. After adjustment for other risk factors, when compared with people of Anglo-Celtic origin, those of southern European origin had lower incidence of colorectal cancer that had CIMP (HR, 0.32 95% CI, 0.16-0.67) or BRAF mutations (HR, 0.30 95% CI, 0.16-0.58) but similar incidence of colorectal cancer without CIMP (HR, 0.86 95% CI, 0.70-1.05) or BRAF (HR, 0.90 95% CI, 0.74-1.11). People of southern European origin had lower risk of colorectal cancers with CIMP and BRAF mutation than people of Anglo-Celtic origin, which may in part be due to genetic factors that are less common in people of southern European origin. (Cancer Epidemiol Biomarkers Prev 2008 (7):1774–80)
Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes
Publisher: Springer Science and Business Media LLC
Date: 10-05-2011
DOI: 10.1038/BJC.2011.172
BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 10-2013
From my parents’ language to my language: understanding language ideologies of young Australian Korean heritage language learners at the primary and secondary school level
Publisher: Informa UK Limited
Date: 12-01-2021
Evaluating multiple next-generation sequencing derived tumor features to accurately predict DNA mismatch repair status
Publisher: Cold Spring Harbor Laboratory
Date: 21-06-2022
DOI: 10.1101/2022.06.20.22276419
Abstract: Identifying tumor DNA mismatch repair deficiency (dMMR) is important for precision medicine. We assessed tumor features, in idually and in combination, in whole-exome sequenced (WES) colorectal cancers (CRCs) and in panel sequenced CRCs, endometrial cancers (ECs) and sebaceous skin tumors (SSTs) for their accuracy in detecting dMMR. CRCs (n=300) with WES, where MMR status was determined by immunohistochemistry, were assessed for microsatellite instability (MSMuTect, MANTIS, MSIseq, MSISensor), COSMIC tumor mutational signatures (TMS) and somatic mutation counts. A 10-fold cross-validation approach (100 repeats) evaluated the dMMR prediction accuracy for 1) in idual features, 2) Lasso statistical model and 3) an additive feature combination approach. Panel sequenced tumors (29 CRCs, 22 ECs, 20 SSTs) were assessed for the top performing dMMR predicting features/models using these three approaches. For WES CRCs, 10 features provided % dMMR prediction accuracy, with MSMuTect, MSIseq, and MANTIS achieving ≥99% accuracy. The Lasso model achieved 98.3%. The additive feature approach with ≥3/6 of MSMuTect, MANTIS, MSIseq, MSISensor, INDEL count or TMS ID2+ID7 achieved 99.7% accuracy. For the panel sequenced tumors, the additive feature combination approach of ≥3/6 achieved accuracies of 100%, 95.5% and 100%, for CRCs, ECs, and SSTs, respectively. The microsatellite instability calling tools performed well in WES CRCs, however, an approach combining tumor features may improve dMMR prediction in both WES and panel sequenced data across tissue types.
Meeting report from the joint IARC–NCI international cancer seminar series: a focus on colorectal cancer
Publisher: Elsevier BV
Date: 04-2019
Between the grid and composition
Publisher: Walter de Gruyter GmbH
Date: 25-01-2013
Association between Adult Height and Risk of Colorectal, Lung, and Prostate Cancer: Results from Meta-analyses of Prospective Studies and Mendelian Randomization Analyses
Publisher: Public Library of Science (PLoS)
Date: 06-09-2016
Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer
Publisher: American Association for Cancer Research (AACR)
Date: 2011
DOI: 10.1158/1940-6207.CAPR-10-0212
Abstract: Women carrying germline mutations in BRCA1 are at a substantially elevated risk of breast cancer and their tumors typically have distinctive morphologic features. We hypothesized that constitutional methylation of the BRCA1 promoter region could give rise to such breast cancers in women. We selected 255 women diagnosed with breast cancer before the age of 40 years for whom BRCA1 germline mutations had not been identified. Of them, 52 had five or more of nine BRCA1 mutation-associated morphologic features (group 1), 39 had four (group 2), and 164 had three or less (group 3). The prevalence of detectable BRCA1 promoter methylation in peripheral blood DNA decreased from 31% to 10% to 5% across groups 1–3, respectively (P = 0.000002), and was significantly greater than the 4% frequency in unaffected controls (P = 0.004). Peripheral blood methylation was associated with a 3.5-fold (95% CI, 1.4–10.5) increased risk of having early onset breast cancer. Methylation was consistently mosaic in the peripheral blood where the estimated allelic frequency of BRCA1 promoter methylation ranged from 0.1% to 17%. Group 1 women, but not group 3 women, with detectable methylation of peripheral blood DNA had high levels of BRCA1 promoter methylation of their tumor DNA, indicating that constitutional BRCA1 methylation strongly predisposes toward the development of BRCA1 methylated tumors that then have features resembling BRCA1 mutated tumors. Screening peripheral blood for BRCA1 promoter methylation might thus predict early-onset breast cancers. This raises the possibility of chemoprevention or other intervention to diminish the risk of developing breast cancer in these women. Cancer Prev Res 4(1) 23–33. ©2010 AACR. Cancer Prev Res 4(1) 23–33. ©2010 AACR.
The Routledge Handbook of Multimodal Analysis
Publisher: SAGE Publications
Date: 05-2012
Effects of multilingualism on Australian infants’ language environments in early childhood education centers
Publisher: Elsevier BV
Date: 02-2023
Adequacy of risk-reducing gynaecologic surgery in BRCA1 or BRCA2 mutation carriers and other women at high risk of pelvic serous cancer
Publisher: Springer Science and Business Media LLC
Date: 22-03-2011
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Related Funding Activities
Discovery Projects - Grant ID: DP180102114
Start Date: 02-2018
End Date: 01-2025
Amount: $927,996.00
Funder: Australian Research Council
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