Research Topics
Genomes and GenesSpecies | Mark A JenkinsSummaryAffiliation: University of Melbourne Country: Australia Publications
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Publications
Risks of colorectal and other cancers after endometrial cancer for women with lynch syndromeAung Ko Win
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, Level 3, 207 Bouverie St, University of Melbourne, VIC 3010 Australia
J Natl Cancer Inst 105:274-9. 2013..3, 95% CI = 8.56 to 42.9), and breast cancer (SIR = 2.51, 95% CI = 1.17 to 4.14). Conclusions Women with Lynch syndrome who are diagnosed with endometrial cancer have increased risks of several cancers, including breast cancer...
Meta-analysis of 8q24 for seven cancers reveals a locus between NOV and ENPP2 associated with cancer developmentAbra G Brisbin
Department of Health Sciences Research, Mayo Clinic, Rochester, USA
BMC Med Genet 12:156. 2011..However, the abundance of associations around 128 Mb on chromosome 8 could mask the appearance of a weaker, but important, association elsewhere on 8q24...
Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family studyMark A Jenkins
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Victoria, Australia
Clin Gastroenterol Hepatol 4:489-98. 2006..These may be overestimates, due to analytic problems, and not generalizable. We estimated average cancer risks for mutations identified in population-based early onset colorectal cancer cases (probands) unselected for family history...
After hMSH2 and hMLH1--what next? Analysis of three-generational, population-based, early-onset colorectal cancer familiesMark A Jenkins
Centre for Genetic Epidemiology, The University of Melbourne, 723 Swanston Street, Carlton Victoria 3053, Australia
Int J Cancer 102:166-71. 2002..There is evidence for a role of yet to be identified genes associated with a high recessively-inherited risk of colorectal cancer...
Role of MSH6 and PMS2 in the dna mismatch repair process and carcinogenesisMark A Jenkins
Centre for MEGA Epidemiology, School of Population Health, The University of Melbourne, Victoria 3010, Australia
Surg Oncol Clin N Am 18:625-36. 2009....
Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based studyMark A Jenkins
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Parkville, Victoria, Australia
Gastroenterology 133:48-56. 2007..Our aim was to identify pathology and other features that independently predict high MSI (MSI-H)...
Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort studyAung Ko Win
The University of Melbourne, Australia
J Clin Oncol 30:958-64. 2012..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...
Risks of primary extracolonic cancers following colorectal cancer in lynch syndromeAung Ko Win
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, Level 3, 207 Bouverie Street, The University of Melbourne, VIC 3010, Australia
J Natl Cancer Inst 104:1363-72. 2012..We estimated the risks of primary cancers other than colorectal cancer following a diagnosis of colorectal cancer in mutation carriers...
Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancerAung Ko Win
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Vic, Australia
Int J Cancer 129:2256-62. 2011..Monoallelic MUTYH mutation carriers with a family history of CRC, such as those identified from screening multiple-case CRC families, are at increased risk of colorectal, gastric, endometrial and possibly liver cancers...
Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriersAung Ko Win
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
Obstet Gynecol 117:899-905. 2011..To investigate the association of body mass index (BMI) in early adulthood and endometrial cancer risk for carriers of a germline mutation in a DNA mismatch repair gene...
Early-life sun exposure and risk of melanoma before age 40 yearsAnne E Cust
Centre for Molecular, Environmental, Genetic and Analytic MEGA Epidemiology, Melbourne School of Population Health, University of Melbourne, Vic, Australia
Cancer Causes Control 22:885-97. 2011..To examine associations between early-life sun exposure and risk of invasive cutaneous melanoma diagnosed between ages 18 and 39 years...
Risks of Lynch syndrome cancers for MSH6 mutation carriersLaura Baglietto
Cancer Epidemiology Centre, Victorian Cancer Registry, Carlton, Victoria, Australia
J Natl Cancer Inst 102:193-201. 2010..Germline mutations in MSH6 account for 10%-20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because there have been only a few studies of mutation carriers, their cancer risks are uncertain...
The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian womenJames G Dowty
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Victoria, Australia
Breast Cancer Res Treat 112:35-9. 2008..Larger studies would be required to determine if this variant is associated with a smaller risk of breast cancer...
Microsatellite instability markers for identifying early-onset colorectal cancers caused by germ-line mutations in DNA mismatch repair genesLeeanne J Mead
Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia
Clin Cancer Res 13:2865-9. 2007..We wanted to examine which microsatellite markers currently used to detect MSI best predict early-onset colorectal cancer caused by germ-line mutations in MMR genes...
A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancerJohn L Hopper
Centre for Genetic Epidemiology, The University of Melbourne, Carlton, Victoria, Australia
Hum Mutat 26:298-302. 2005....
Does eczema in infancy cause hay fever, asthma, or both in childhood? Insights from a novel regression model of sibling dataJohn L Hopper
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, University of Melbourne, Melbourne, Australia
J Allergy Clin Immunol 130:1117-1122.e1. 2012..The atopic march hypothesis proposes that eczema precedes the development of asthma and allergic rhinitis...
CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family StudyJiun Horng Chang
Centre for Genetic Epidemiology, The University of Melbourne, Victoria, Australia
Breast Cancer Res 7:R513-21. 2005..We attempted to replicate the findings of studies assessing such interactions with the -34T-->C polymorphism...
Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genesChristine M Van Vliet
Centre for Molecular, Environmental, Genetic, Analytic Epidemiology, The University of Melbourne, Victoria 3010, Australia
Hum Mutat 32:207-12. 2011..If confirmed by larger studies, these results will have important implications for the etiology of CRC and for the clinical management of MMR gene mutation carriers...
Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutationsGillian S Dite
Centre for Genetic Epidemiology, The University of Melbourne, Melbourne, Australia
J Natl Cancer Inst 95:448-57. 2003....
Childhood immunization and atopic disease into middle-age--a prospective cohort studyMelanie C Matheson
Centre for MEGA Epidemiology, The University of Melbourne, Melbourne, Vic, Australia
Pediatr Allergy Immunol 21:301-6. 2010..Our findings should provide reassurance that in terms of life time risk of asthma and atopic disease, childhood immunization is safe...
Sunbed use during adolescence and early adulthood is associated with increased risk of early-onset melanomaAnne E Cust
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, University of Melbourne, Melbourne, Australia
Int J Cancer 128:2425-35. 2011..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...
Factors influencing asthma remission: a longitudinal study from childhood to middle ageJohn A Burgess
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Level 2, 723 Swanston Street, Carlton, Victoria 3053, Australia
Thorax 66:508-13. 2011..To examine asthma remission from childhood to middle age...
Screening practices of Australian men and women categorized as "at or slightly above average risk" of colorectal cancerDriss Ait Ouakrim
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, The University of Melbourne, Level 3, 207 Bouverie Street, Melbourne, VIC 3010, Australia
Cancer Causes Control 23:1853-64. 2012..We conducted a population-based study to estimate CRC screening practices existing outside the current program...
Cancer risks for relatives of patients with serrated polyposisAung Ko Win
Centre for MEGA Epidemiology, School of Population Health, University of Melbourne, Carlton, Victoria, Australia
Am J Gastroenterol 107:770-8. 2012..The aim of this study was to estimate the risks of CRC and extracolonic cancers for relatives of patients with serrated polyposis...
Prognosis of premenopausal breast cancer and childbirth prior to diagnosisKelly-Anne Phillips
Peter MacCallum Cancer Centre, University of Melbourne, Carlton, Victoria 3053, Australia
J Clin Oncol 22:699-705. 2004..Clinicians should be aware that women diagnosed with breast cancer within a few years following childbirth may have a worse outcome than that suggested solely by the standard histopathological prognostic factors of their cancer...
Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UKAnne E Cust
Center for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Melbourne, Australia
J Med Genet 48:266-72. 2011..CDKN2A mutations confer a substantial risk of cutaneous melanoma; however, the magnitude of risk is uncertain...
Childhood allergic rhinitis predicts asthma incidence and persistence to middle age: a longitudinal studyJohn A Burgess
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Victoria, Australia
J Allergy Clin Immunol 120:863-9. 2007..The association between allergic rhinitis and asthma is well documented, but the temporal sequence of this association has not been closely examined...
Ethnicity and risk for colorectal cancers showing somatic BRAF V600E mutation or CpG island methylator phenotypeDallas R English
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, The University of Melbourne, Level 1, Parkville, Victoria, Australia
Cancer Epidemiol Biomarkers Prev 17:1774-80. 2008....
Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancerMark A Jenkins
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Carlton, Victoria 3053, Australia
Curr Oncol Rep 9:202-7. 2007..Incomplete penetrance and differences in risk by subcategories are consistent with the existence of genetic and/or environmental risk -modifiers. Data from large cohorts of carriers are required to study such modifiers with precision...
Asthma, asthma medications, and prostate cancer riskGianluca Severi
Cancer Epidemiology Centre, The Cancer Council of Victoria, Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Carlton, VIC 3053, Australia
Cancer Epidemiol Biomarkers Prev 19:2318-24. 2010..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...
Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysisAung Ko Win
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Melbourne, VIC 3010, Australia
Fam Cancer 10:1-9. 2011..3%; SE 0.9%) than for controls (1.4%; SE 0.3%) (P = 0.02). Monoallelic MUTYH mutation carriers are at increased risk of CRC but the average increase is small...
Screening practices of unaffected people at familial risk of colorectal cancerDriss Ait Ouakrim
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, The University of Melbourne and The Royal Melbourne Hospital, Parkville, Vic, Australia
Cancer Prev Res (Phila) 5:240-7. 2012..Guidelines for CRC screening are not being implemented in the population. More research is needed to identify the reasons so as to enable development of strategies to improve participation in screening...
Who remembers whether they had asthma as children?John A Burgess
Centre for Molecular, Environmental, Genetic and Analytical Epidemiology, The University of Melbourne, 723 Swanston Street, Carlton, Victoria 3053, Australia
J Asthma 43:727-30. 2006..To assess misclassification in adults reporting childhood asthma...
Low somatic K-ras mutation frequency in colorectal cancer diagnosed under the age of 45 yearsKathryn Alsop
Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Vic, Australia
Eur J Cancer 42:1357-61. 2006..The role of somatic K-ras mutations in early-onset colorectal cancer carcinogenesis appears to be minor, in contrast to its significant role in colorectal cancer of later age of onset...
Cancer Risks for MLH1 and MSH2 Mutation CarriersJames G Dowty
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
Hum Mutat 34:490-7. 2013..Our estimates of CRC and EC cumulative risks for MLH1 and MSH2 mutation carriers are the most precise currently available...
Risk prediction models for colorectal cancer: a reviewAung Ko Win
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
Cancer Epidemiol Biomarkers Prev 21:398-410. 2012..We conclude that there is no model that sufficiently covers the known risk factors for colorectal cancer that is suitable for assessment of people from across the full range of risk and that a new comprehensive model is needed...
Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family studyMark A Jenkins
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Victoria, Australia
Cancer Epidemiol Biomarkers Prev 15:312-4. 2006....
Is childhood immunisation associated with atopic disease from age 7 to 32 years?Kazunori Nakajima
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, The University of Melbourne, Level 2, 723 Swanston Street, Carlton, VIC 3053 Australia
Thorax 62:270-5. 2007..There is ongoing conjecture over whether childhood immunisation leads to an increased risk of developing atopic diseases...
Cancer risk management practices of noncarriers within BRCA1/2 mutation positive families in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast CancerSarah Jane Dawson
Division of Haematology and Medical Oncology, Peter MacCallum Cancer Centre, Locked Bag No 1, A Beckett St, Victoria, 8006, Australia
J Clin Oncol 26:225-32. 2008..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...
Population-based, case-control-family design to investigate genetic and environmental influences on melanoma risk: Australian Melanoma Family StudyAnne E Cust
Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, School of Population Health, The University of Melbourne, Level 1, Melbourne, Victoria, Australia
Am J Epidemiol 170:1541-54. 2009..The authors discuss methodological and analytical issues related to the study design and conduct, as well as the potentially novel insights the study can deliver...
Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinicsClare L Scott
Department of Haematology and Medical Oncology, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia
Hum Genet 112:542-51. 2003..The issue of the pathogenicity of specific variants may be addressed analytically providing there are one or more suitably informative families with that mutation...
Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndromeMusa Drini
Colorectal Medicine and Genetics, Royal Melbourne Hospital, Department of Medicine, University of Melbourne, Parkville, Victoria, Australia
PLoS ONE 6:e16831. 2011..In this study, we investigated the potential for interaction of genetic and epigenetic variation in DNMT genes, in the aetiology of HPS...
Sociodemographic, lifestyle, and medical risk factors for visual impairment in an urban asian population: the singapore malay eye studyElaine W Chong
FRCSE, Centre for Eye Research Australia, University of Melbourne, 32 Gisborne St, East Melbourne 3002, Australia
Arch Ophthalmol 127:1640-7. 2009..To describe the associations between sociodemographic, lifestyle, and medical risk factors and visual impairment in a Southeast Asian population...
Variants on 9p24 and 8q24 are associated with risk of colorectal cancer: results from the Colon Cancer Family RegistryJenny N Poynter
Department of Preventive Medicine, University of Southern California, 1441 Eastlake Avenue, NOR4411A, Los Angeles, CA 90089 9175, USA
Cancer Res 67:11128-32. 2007..These data suggest that common variants may play important roles in the risk of CRC...
Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancerMelissa C Southey
Genetic Epidemiology Laboratory, Department of Pathology, Australia
J Clin Oncol 23:6524-32. 2005..The relationships between mismatch repair (MMR) protein expression, microsatellite instability (MSI), family history, and germline MMR gene mutation status have not been studied on a population basis...
Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregationSharlene Gill
British Columbia Cancer Agency, Vancouver, British Columbia, Canada
Clin Cancer Res 11:6466-71. 2005..Rarely, there is selective loss of PMS2 expression. We sought to describe the frequency and clinical correlates of selective loss of expression of PMS2 with the MSI-H tumor phenotype...
Measures of familial aggregation depend on definition of family history: meta-analysis for colorectal cancerLaura Baglietto
Cancer Epidemiology Centre, The Cancer Council of Victoria, 100 Rathdowne Street, Carlton, Melbourne, Victoria 3053, Australia
J Clin Epidemiol 59:114-24. 2006....
Dominant negative ATM mutations in breast cancer familiesGeorgia Chenevix-Trench
Queensland Institute of Medical Research, Brisbane, Australia
J Natl Cancer Inst 94:205-15. 2002..We examined these two ATM mutations in a population-based, case-control series of breast cancer families and multiple-case breast cancer families...
BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50Robert W Haile
Department of Preventive Medicine, University of Southern California Keck School of Medicine, 1441 Eastlake Avenue, MS 9175, Los Angeles, CA 90089 9175, USA
Cancer Epidemiol Biomarkers Prev 15:1863-70. 2006..Understanding the effect of oral contraceptives on risk of breast cancer in BRCA1 or BRCA2 mutation carriers is important because oral contraceptive use is a common, modifiable practice...
A range of simple summary genome-wide statistics for detecting genetic linkage using high density marker dataIan W Saunders
CSIRO Preventative Health National Research Flagship, CSIRO Mathematical and Information Sciences, Glen Osmond 5064, Australia
Genet Epidemiol 31:565-76. 2007..While the sample size was not sufficient to detect the linkage, there was a clear signal at the MLH1 location indicating that relatively small sample sizes would have been adequate to detect linkage to this gene...
Is BRCA2 c.9079 G>A a predisposing variant for early onset breast cancer?Fleur Hammet
Breast Cancer Res Treat 109:177-9. 2008
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutationsLeigha Senter
Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, USA
Gastroenterology 135:419-28. 2008..Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers...
Contributions of ATM mutations to familial breast and ovarian cancerYvonne R Thorstenson
Stanford Genome Technology Center, Palo Alto, California 94304 1103, USA
Cancer Res 63:3325-33. 2003..This study indicates that there is a significant prevalence of ATM mutations in breast and ovarian cancer families and adds to a growing body of evidence that ATM mutations confer increased susceptibility to breast cancer...
Stability of BAT26 in Lynch syndrome colorectal tumoursLesley Jaskowski
Eur J Hum Genet 15:139-41; author reply 141-2. 2007
No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 yearsValerie McGuire
Department of Health Research and Policy, Stanford University School of Medicine, Health Research and Stanford, CA 94305-5405, USA
Cancer Epidemiol Biomarkers Prev 15:1565-7. 2006
Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancerJoanne Young
Conjoint Gastroenterology Laboratory, Queensland Institute of Medical Research, Herston, Australia
Clin Gastroenterol Hepatol 3:254-63. 2005..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 individual members...
Infrapectineal plating for acetabular fractures: a technical adjunct to internal fixationAbid A Qureshi
Muir Orthopaedic Specialists, Walnut Creek, CA, USA
J Orthop Trauma 18:175-8. 2004..By resisting medial secondary redisplacement, this technique adds to stable fixation for acetabular fractures involving medial displacement, particularly of the quadrilateral plate...
