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Genomes and Genes | J L HopperSummaryAffiliation: University of Melbourne Country: Australia Publications
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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...
A genome-wide linkage study of mammographic density, a risk factor for breast cancerCelia M T Greenwood
Program in Genetics and Genome Biology, The Hospital for Sick Children, 101 College Street, East Tower, Toronto, ON M5G 1L7, Canada
Breast Cancer Res 13:R132. 2011..Mammographic breast density is a highly heritable (h2 > 0.6) and strong risk factor for breast cancer. We conducted a genome-wide linkage study to identify loci influencing mammographic breast density (MD)...
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2Anna Marie Mulligan
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
Breast Cancer Res 13:R110. 2011..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...
Inference about causation from examination of familial confounding: application to longitudinal twin data on mammographic density measures that predict breast cancer riskJennifer Stone
Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Melbourne, Victoria, Australia
Cancer Epidemiol Biomarkers Prev 21:1149-55. 2012..Mammographic density is a strong risk factor for breast cancer. It is unknown whether there are different causes of variation in mammographic density at different ages...
Using tumour pathology to identify people at high genetic risk of breast and colorectal cancersJ L Hopper
The University of Melbourne, School of Population Health, Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Carlton, Australia
Pathology 44:89-98. 2012..We propose how this new approach could be undertaken by having genetic testing and counselling prioritised to those with the greatest probability of carrying a germline mutation in these known cancer predisposition genes...
Second to fourth digit ratio (2D:4D) and concentrations of circulating sex hormones in adulthoodDavid C Muller
Cancer Epidemiology Centre, The Cancer Council of Victoria, Melbourne, Australia
Reprod Biol Endocrinol 9:57. 2011..The objective of this study was to examine whether circulating concentrations of sex hormones and SHBG measured in adulthood was associated with 2D:4D...
Australian clinicians and chemoprevention for women at high familial risk for breast cancerLouise A Keogh
Centre for MEGA Epidemiology, School of Population Health, University of Melbourne, Australia
Hered Cancer Clin Pract 7:9. 2009....
Rare variants in the ATM gene and risk of breast cancerDavid E Goldgar
Department of Dermatology, University of Utah School of Medicine, 30 N 1900 E, Salt Lake City, UT 84132 2101, USA
Breast Cancer Res 13:R73. 2011..However, the magnitude of risk and the subset of variants that are pathogenic for breast cancer remain unresolved...
Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening studyFlorence Le Calvez-Kelm
International Agency for Research on Cancer, 150 cours Albert Thomas, Lyon Cedex 08, F 69372, France
Breast Cancer Res 13:R6. 2011..This absence has been due in part to a lack of validated statistical methods for summarizing risk attributable to large numbers of individually rare missense substitutions...
Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family RegistryLetitia D Smith
Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Melbourne, Victoria 3010, Australia
Breast Cancer Res 13:R14. 2011..We sought to test the value of selecting women for BRCA1 mutation testing on the basis of family history and/or breast tumour morphology criteria as well as the value of testing for large genomic alterations in BRCA1...
Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control studyRoger L Milne
Genetic and Molecular Epidemiology Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Madrid, 28029, Spain
Breast Cancer Res 12:R110. 2010....
Using mammographic density to predict breast cancer risk: dense area or percentage dense areaJennifer Stone
Centre for Molecular, Environmental, Genetic and Analytical MEGA Epidemiology, The University of Melbourne, School of Population Health, Victoria, 3010, Australia
Breast Cancer Res 12:R97. 2010..Mammographic density (MD) is one of the strongest risk factors for breast cancer. It is not clear whether this association is best expressed in terms of absolute dense area or percentage dense area (PDA)...
A PALB2 mutation associated with high risk of breast cancerMelissa C Southey
Department of Pathology, The University of Melbourne, Victoria 3010, Australia
Breast Cancer Res 12:R109. 2010..Little is known about by how much or whether risk differs by mutation or family history, owing to the paucity of studies of cases unselected for family history...
Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?Graham B Byrnes
Epidemiology Methods and Support Group, International Agency for Research on Cancer, 150 cours Albert Thomas, Lyon, France
Breast Cancer Res 10:208. 2008..Therefore, mutation testing of these genes for women with a strong family history, especially if it is of early onset, may be as clinically relevant as it is for BRCA1 and BRCA2...
Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a Defined personal and family history in an Ashkenazi Jewish woman (LAMBDA)Carmel Apicella
Centre for Genetic Epidemiology, The University of Melbourne, Carlton, Victoria, Australia
Breast Cancer Res 5:R206-16. 2003..The aim of this study was to develop a simple algorithm to estimate the probability that an Ashkenazi Jewish woman carries an ancestral mutation, based on multiple predictive factors...
The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriersAmanda B Spurdle
Queensland Institute of Medical Research, Brisbane, Australia
Breast Cancer Res 7:R176-83. 2005..Women with germline BRCA1 mutations who carry at least one AR allele with 28 or more repeats have been reported to have an earlier age at onset of breast cancer...
The AIB1 glutamine repeat polymorphism is not associated with risk of breast cancer before age 40 years in Australian womenKaren G Montgomery
Cancer Genetics Laboratory, Victorian Breast Cancer Research Consortium, Peter MacCallum Cancer Centre, St, Andrews Place, East Melbourne, Victoria, Australia
Breast Cancer Res 7:R353-6. 2005..It contains a glutamine repeat (CAG/CAA) polymorphism at its carboxyl-terminal region that may alter the transcriptional activation of the receptor and affect susceptibility to breast cancer through altered sensitivity to hormones...
Is there a positive association between mammographic density and bone mineral density?Gillian S Dite
Breast Cancer Res 8:401. 2006
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...
The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancerEsther M John
Clinical and Genetic Epidemiology Research Branch, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland, USA
Breast Cancer Res 6:R375-89. 2004....
Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of ageLidija Turkovic
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, The University of Melbourne, Victoria 3010, Australia
BMC Cancer 10:466. 2010....
The 4q27 locus and prostate cancer riskElizabeth A Tindall
Cancer Genetics Group, Children s Cancer Institute Australia for Medical Research, Sydney Children s Hospital, High St, Randwick, NSW, Australia
BMC Cancer 10:69. 2010..This region harbors two cytokine genes IL-2 and the recently described IL-21...
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....
Uptake of offer to receive genetic information about BRCA1 and BRCA2 mutations in an Australian population-based studyLouise A Keogh
Centre for Genetic Epidemiology, University of Melbourne, 723 Swanston Street, Carlton, Victoria 3053, Australia
Cancer Epidemiol Biomarkers Prev 13:2258-63. 2004....
The Australian Twin RegistryJohn L Hopper
Centre for Genetic Epidemiology, The University of Melbourne, Carlton, Vic, Australia
Twin Res 5:329-36. 2002....
Oral contraceptive use and risk of early-onset breast cancer in carriers and noncarriers of BRCA1 and BRCA2 mutationsRoger L Milne
Centre for Genetic Epidemiology, The University of Melbourne, Level 2, 723 Swanston Street, Carlton, Victoria 3053, Australia
Cancer Epidemiol Biomarkers Prev 14:350-6. 2005..Recent oral contraceptive use has been associated with a small increase in breast cancer risk and a substantial decrease in ovarian cancer risk. The effects on risks for women with germ line mutations in BRCA1 or BRCA2 are unclear...
Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriersJohn L Hopper
Centre for Molecular, Analytic, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Australia
J Med Genet 45:409-10. 2008
Population-based family studies in genetic epidemiologyJohn L Hopper
University of Melbourne, Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, 723 Swanston Street, Carlton, Victoria 3053, Australia
Lancet 366:1397-406. 2005..Given their versatility, population-based family studies could become a principal framework in epidemiology, and move genetics from its traditional focus on high-risk families to give it a wider clinical and population health relevance...
Australian Twin Registry: a nationally funded resource for medical and scientific research, incorporating match and WATCHJohn L Hopper
Australian Twin Registry, Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, 723 Swanston Street, Carlton, Victoria 3053, Australia
Twin Res Hum Genet 9:707-11. 2006..Consistent with its mission statement, the long-term goal of the ATR is to make twin studies a standard component of medical and scientific research...
Disease-specific prospective family study cohorts enriched for familial riskJohn L Hopper
Department of Public Health, The University of Melbourne, Carlton, Australia
Epidemiol Perspect Innov 8:2. 2011..The prospective aspect gives credibility to risk estimates. The familial aspect allows family-based designs, matching for unmeasured factors, adjusting for underlying familial risk profile, and enhanced cohort maintenance...
More breast cancer genes?J L Hopper
The University of Melbourne, Centre for Genetic Epidemiology, Carlton, Victoria, Australia
Breast Cancer Res 3:154-7. 2001..Replication studies will be needed to clarify whether there really is a tumour suppressor gene other than BRCA2 on chromosome 13q...
Genetic epidemiology of female breast cancerJ L Hopper
Department of Public Health, The University of Melbourne, Carlton, Victoria 3053, Australia
Semin Cancer Biol 11:367-74. 2001..Unravelling all the causes of familial aggregation will be a major step in understanding the causes of female breast cancer...
Application of genetics to the prevention of colorectal cancerJohn L Hopper
Centre for Genetic Epidemiology, Department of Public Health, The University of Melbourne, 723 Swanston Street, Carlton, Victoria 3053, Australia
Recent Results Cancer Res 166:17-33. 2005....
Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family StudyJ L Hopper
The University of Melbourne, Centre for Genetic Epidemiology, Carlton, Victoria, Australia
Cancer Epidemiol Biomarkers Prev 8:741-7. 1999..Breast cancer risk in BRCA1 or BRCA2 mutation carriers may be modified by other genetic or environmental factors. Genetic counselors may need to take into account the family history of the consultand...
CFTR deltaF508 carrier status, risk of breast cancer before the age of 40 and histological grading in a population-based case-control studyM C Southey
Department of Pathology, Peter MacCallum Cancer Institute, Melbourne, Australia
Int J Cancer 79:487-9. 1998..A combination of our data with other large population-based samples of cases and controls is required to resolve this issue...
Sexuality, hormones and the menopausal transitionL Dennerstein
Department of Public Health and Community Medicine, University of Melbourne, Carlton, Victoria, Australia
Maturitas 26:83-93. 1997..To assess the validity and reliability of a sexuality questionnaire, and to assess the relationship of sexual functioning to age, menopausal status and hormone levels...
Adequacy of risk-reducing gynaecologic surgery in BRCA1 or BRCA2 mutation carriers and other women at high risk of pelvic serous cancerB E Kiely
Division of Cancer Medicine, Peter MacCallum Cancer Centre, Locked Bag 1, A Beckett St, Melbourne, Vic, 8006, Australia
Fam Cancer 10:505-14. 2011..Additional education of clinicians and consumers is needed to ensure optimal surgery and pathology in these women...
Morphological predictors of BRCA1 germline mutations in young women with breast cancerM C Southey
Department of Pathology, Genetic Epidemiology Laboratory, Victoria, Carlton, Australia
Br J Cancer 104:903-9. 2011..We sought an optimal strategy for identifying carriers using family history, breast cancer morphology and hormone receptor status data...
Increased cancer risks for relatives of very early-onset breast cancer cases with and without BRCA1 and BRCA2 mutationsG S Dite
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Level 1, 723 Swanston Street, Melbourne, Carlton VIC 3053, Australia
Br J Cancer 103:1103-8. 2010..Little is known regarding cancer risks for relatives of women with very early-onset breast cancer...
Segregation analyses of 1,476 population-based Australian families affected by prostate cancerJ Cui
Centre for Genetic Epidemiology, The University of Melbourne, Carlton, Victoria 3053, Australia
Am J Hum Genet 68:1207-18. 2001..Within discussed limitations, these analyses confirm the genetic heterogeneity, of prostate cancer susceptibility, that is becoming evident from linkage analyses, and they may aid future efforts in gene discovery...
A prospective study of bone loss in menopausal Australian-born womenJ R Guthrie
Department of Psychiatry, Royal Melbourne Hospital, Victoria, Australia
Osteoporos Int 8:282-90. 1998..05), such that women with higher BMI had less bone loss. In conclusion, during the time of transition from peri- to post-menopause, women had accelerated BMD loss at both the hip and spine...
Bone turnover markers and bone density across the menopausal transitionP R Ebeling
Bone and Mineral Service, University of Melbourne, Royal Melbourne Hospital, Victoria, Australia
J Clin Endocrinol Metab 81:3366-71. 1996..In conclusion, the perimenopause is associated with elevated bone resorption rates and declining BMD, and factors in addition to estrogen deficiency may also contribute to the pathogenesis of postmenopausal osteoporosis...
Sibship analysis of associations between SNP haplotypes and a continuous trait with application to mammographic densityJ Stone
Centre for Molecular, Environmental, Genetic, and Analytic MEGA Epidemiology, University of Melbourne, Melbourne, Australia
Genet Epidemiol 34:309-18. 2010..We found evidence of association between MD and a 4-SNP VDR haplotype. In conclusion, our proposed method retains the benefits of the between- and within-pair analysis for pairs of siblings and can be implemented in standard software...
Predictors of the use of complementary and alternative medicine (CAM) by women at high risk for breast cancerK M Field
Division of Haematology and Medical Oncology, Peter MacCallum Cancer Centre, Locked Bag No 1, A Beckett St, Melbourne, Victoria 8006, Australia
Eur J Cancer 45:551-60. 2009..Few data exist regarding the use of complementary and alternative medicine (CAM) by unaffected women at high risk of breast cancer...
Estrogen receptor polymorphism at codon 325 and risk of breast cancer in women before age fortyM C Southey
Department of Pathology and Research, Peter MacCallum Cancer Institute, Melbourne, Australia
J Natl Cancer Inst 90:532-6. 1998..28+/-0.05 versus 0.11+/-0.02; P<.001). To determine whether this polymorphism is a risk factor for early-onset breast cancer, we conducted a population-based, case-control-family study in Australia...
Prospectively measured levels of serum follicle-stimulating hormone, estradiol, and the dimeric inhibins during the menopausal transition in a population-based cohort of womenH G Burger
Prince Henry s Institute of Medical Research, Monash Medical Centre, Clayton, Victoria, Australia
J Clin Endocrinol Metab 84:4025-30. 1999....
Smoking and prostate cancer: findings from an Australian case-control studyG G Giles
Cancer Epidemiology Centre, Anti Cancer Council of Victoria, Melbourne, Australia
Ann Oncol 12:761-5. 2001..To examine the risk of smoking on histopathologically-confirmed moderate- and high-grade prostate cancer...
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....
Predictors of mammographic density: insights gained from a novel regression analysis of a twin studyGillian S Dite
The University of Melbourne, Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, 723 Swanston Street, Carlton, Victoria 3053, Australia
Cancer Epidemiol Biomarkers Prev 17:3474-81. 2008..The associations between mammographic density measures and height are consistent with shared early life environmental factors that predispose to both height and percent mammographic density and possibly breast cancer risk...
Regressive logistic and proportional hazards disease models for within-family analyses of measured genotypes, with application to a CYP17 polymorphism and breast cancerJisheng S Cui
Centre for Genetic Epidemiology, The University of Melbourne, Melbourne, Victoria, Australia
Genet Epidemiol 24:161-72. 2003..This analytical approach is well-suited to the data that arise from population-based case-control-family studies, in which cases, controls and relatives are studied, and genotype is measured for some but not all subjects...
Plasma concentration of Propionibacterium acnes antibodies and prostate cancer risk: results from an Australian population-based case-control studyG Severi
Cancer Epidemiology Centre, The Cancer Council of Victoria, Melbourne, Victoria 3053, Australia
Br J Cancer 103:411-5. 2010..The aim of our study was to test whether circulating levels of P. acnes antibodies are associated with prostate cancer risk and tumour characteristics using plasma samples from a population-based case-control study...
Relevance of the hygiene hypothesis to early vs. late onset allergic rhinitisM C Matheson
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, The University of Melbourne, 1 723 Swanston Street, Carlton, VIC 3053, Australia
Clin Exp Allergy 39:370-8. 2009..We examined the association between markers of the hygiene hypothesis and allergic rhinitis that developed before 7 years of age and allergic rhinitis that developed after 7 years of age...
BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancerM C Southey
Department of Pathology and Research, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia
Br J Cancer 79:34-9. 1999..6%). Seven rare variants were also detected, but for none was there evidence of a strong effect on breast cancer susceptibility. Therefore, on a population basis, rare variants are likely to contribute little to breast cancer incidence...
Power of regression and maximum likelihood methods to map QTL from sib-pair and DZ twin dataP M Visscher
Centre for Genetic Epidemiology, The University of Melbourne, Australia
Ann Hum Genet 65:583-601. 2001..DZ twin pairs are likely to be more powerful for linkage analysis than ordinary siblings because they may share more common environmental effects, thereby increasing the proportion of within-family variance that is explained by a QTL...
A prospective longitudinal study of serum testosterone, dehydroepiandrosterone sulfate, and sex hormone-binding globulin levels through the menopause transitionH G Burger
Prince Henry s Institute of Medical Research, Monash Medical Center, Clayton, Victoria, Australia
J Clin Endocrinol Metab 85:2832-8. 2000..DHEAS decreases as a function of age, not time relative to FMP, and T remains unchanged during the menopausal years. SHBG and DHEAS show a high degree of stability within an individual over time...
Prospective study of breast cancer risk for mutation negative women from BRCA1 or BRCA2 mutation positive familiesS L Harvey
Division of Cancer Medicine, Peter MacCallum Cancer Centre, Locked Bag 1, A Beckett St, Melbourne, VIC 8006, Australia
Breast Cancer Res Treat 130:1057-61. 2011..Despite this being the largest prospective cohort to assess this issue, moderately increased breast cancer risk (2-fold) cannot be ruled out...
The value of the Hospital Anxiety and Depression Scale (HADS) for comparing women with early onset breast cancer with population-based reference womenR H Osborne
Centre for Genetic Epidemiology, School of Population Health, The University of Melbourne, Royal Melbourne Hospital, Parkville, Australia
Qual Life Res 13:191-206. 2004..The Hospital Anxiety and Depression Scale (HADS) is frequently used in cancer studies, yet its utility for comparing people with cancer with people in the community is uncertain...
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...
Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaborationLata Vadlamudi
Epilepsy Research Centre, Department of Medicine (Neurology, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
Epilepsia 47:550-5. 2006..Genetic factors are probably more important in non-classic BRE. The etiology and mode(s) of inheritance of BRE are much more complicated than initially conceptualized...
Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospective cohort studyK A Phillips
Division of Hematology and Medical Oncology, Peter MacCallum Cancer Centre, University of Melbourne Department of Medicine, St Vincent s Hospital, Victoria, NSW, Australia
Clin Genet 70:198-206. 2006..In this cohort, the minority of mutation carriers utilized risk-reducing surgery or chemoprevention and a substantial minority were not undergoing regular cancer-screening tests...
Dietary intake of B vitamins and methionine and risk of lung cancerJ K Bassett
Cancer Epidemiology Centre, Cancer Council Victoria, Carlton South, Victoria, Australia
Eur J Clin Nutr 66:182-7. 2012..Disruption of one-carbon mechanism may affect cancer risk. We investigated prospectively the relationship between dietary intakes of methionine, B vitamins associated with one-carbon metabolism and risk of lung cancer...
Validation study of the LAMBDA model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish womenC Apicella
Centre for Molecular, Environmental, Analytic and Genetic Epidemiology, The University of Melbourne, Victoria, Australia
Clin Genet 72:87-97. 2007..Therefore, LAMBDA is comparable to BRCAPRO for ranking AJ women according to their probability of being a BRCA1 or BRCA2 mutation carrier and is more accurate than brcapro which substantially overpredicts carriers in this population...
Consumption of animal products, their nutrient components and postmenopausal circulating steroid hormone concentrationsM T Brinkman
Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Australia
Eur J Clin Nutr 64:176-83. 2010..We aimed to investigate the association between consumption of animal products and the plasma concentrations of steroid hormones and sex hormone-binding globulin (SHBG)...
Childhood adiposity predicts adult-onset current asthma in females: a 25-yr prospective studyJ A Burgess
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Carlton, VIC 3053 Australia
Eur Respir J 29:668-75. 2007..Higher body mass index in nonasthmatic young females at 7 yrs of age predicts risk of current asthma developing in adult life...
BRCA1 promoter deletions in young women with breast cancer and a strong family history: a population-based studyL D Smith
Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Vic, Australia
Eur J Cancer 43:823-7. 2007..Our data support the inclusion of testing for large genomic alterations in the BRCA1 promoter region in routine clinical mutation detection within BRCA1...
Mammographic density and candidate gene variants: a twins and sisters studyJennifer Stone
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, 2 723 Swanston Street, Carlton, Victoria 3053, Australia
Cancer Epidemiol Biomarkers Prev 16:1479-84. 2007..Little is known about its genetic determinants...
Changes in body composition as determinants of longitudinal changes in bone mineral measures in 8 to 26-year-old female twinsD Young
The University of Melbourne, Department of General Practice and Public Health, Carlton, Victoria, Australia
Osteoporos Int 12:506-15. 2001....
Second to fourth digit ratio (2Dā:ā4D), breast cancer risk factors, and breast cancer risk: a prospective cohort studyD C Muller
1 Cancer Epidemiology Centre, Cancer Council Victoria, 100 Drummond Street, Carlton South, Victoria 3053, Australia 2 Centre for MEGA Epidemiology, The University of Melbourne, Melbourne, Victoria, Australia
Br J Cancer 107:1631-6. 2012..If confirmed in other studies, this suggests that lower exposure or sensitivity to prenatal testosterone might be associated with lower risk of breast cancer...
Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genesA K Win
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Melbourne School of Population Health, Level 3, 207 Bouverie Street, Parkville, Victoria 3010, Australia
Br J Cancer 105:162-9. 2011..We estimated an association between body mass index (BMI) in early adulthood and subsequent risk of CRC for carriers and, as a comparison, estimated the association for non-carriers...
The role of SMAD4 in early-onset colorectal cancerS G Royce
Department of Pathology, University of Melbourne, Victoria, Australia
Colorectal Dis 12:213-9. 2010..Chromosomal loss within the region of 18q and loss of SMAD4 expression have been reported to be frequent somatic events during colorectal cancer tumour progression; however, their associations with age at onset have not been widely studied...
Measuring, and identifying predictors of women's perceptions of three types of breast cancer risk: population risk, absolute risk and comparative riskC Apicella
Department of Public Health, Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Level 1, 723 Swanston Street, Carlton, Victoria, 3053, Australia
Br J Cancer 100:583-9. 2009..Anxiety, high estimation of population risk and lesser family history predicted overestimation of absolute risk, whereas high estimation of population risk and a strong family history predicted underestimation of comparative risk...
Epilepsy in twins: insights from unique historical data of William LennoxL Vadlamudi
Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia
Neurology 62:1127-33. 2004..Finally, comparable results to our Australian series were obtained, verifying the value of twin studies...
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...
Parity and decreased use of oral contraceptives as predictors of asthma in young womenM A Jenkins
Department of Public Health, The University of Melbourne, Carlton, Vic. 3053, Australia
Clin Exp Allergy 36:609-13. 2006..This may be due to alterations of cytokine responses by the pregnant state, triggering adult-onset asthma in women...
Does smoking among friends explain apparent genetic effects on current smoking in adolescence and young adulthood?V M White
The Centre for Behavioural Research in Cancer, The Cancer Council Victoria, Carlton, Victoria 3053, Australia
Br J Cancer 98:1475-81. 2008..Smoking prevention efforts may benefit more by targeting social factors than attempting to identify genetic factors associated with smoking...
Distribution of family history of a disease as a function of mode of inheritance, genetic relative hazard, allele frequency and disease status of the proband, with application to female breast cancerJ Cui
Centre for Genetic Epidemiology, The University of Melbourne, Carlton, Victoria, Australia
J Epidemiol Biostat 6:331-42. 2001..Under recessive inheritance with allele frequency 0.35 and relative hazard 3 (as may be the case for a common polymorphism in the CYP17 gene), the corresponding ratios are 1.1, 1.3 and 1.5, respectively...
Dietary patterns and risk of breast cancerL Baglietto
Cancer Epidemiology Centre, The Cancer Council Victoria, 100 Drummond Street, Carlton, Melbourne, Victoria 3053, Australia
Br J Cancer 104:524-31. 2011..Evidence is emerging that prudent/healthy dietary patterns might be associated with a reduced risk of breast cancer...
The common variant rs1447295 on chromosome 8q24 and prostate cancer risk: results from an Australian population-based case-control studyGianluca Severi
Cancer Epidemiology Centre, The Cancer Council Victoria, 1 Rathdowne Street, Carlton, Victoria 3053, Australia
Cancer Epidemiol Biomarkers Prev 16:610-2. 2007....
Contralateral risk-reducing mastectomy in BRCA1 and BRCA2 mutation carriers and other high-risk women in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab)Belinda E Kiely
Division of Haematology and Medical Oncology, Peter MacCallum Cancer Centre, A Beckett St, Melbourne, Vic, 8006, Australia
Breast Cancer Res Treat 120:715-23. 2010..0001. Younger women with more recently diagnosed BC treated with mastectomy are more likely to elect CRRM. Neither BRCA1/2 mutation status, nor the competing risk of BC recurrence and death, appears to influence decision making...
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...
Rare mutations in XRCC2 increase the risk of breast cancerD J Park
Genetic Epidemiology Laboratory, The University of Melbourne, Victoria, Australia
Am J Hum Genet 90:734-9. 2012..This study demonstrates the power of massively parallel sequencing for discovering susceptibility genes for common, complex diseases...
Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer familiesA A Tesoriero
Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Victoria, Australia
Hum Mutat 26:495. 2005..0001). Therefore five of these seven consensus splice site variants of BRCA1 and BRCA2 produce a transcript similar to that of other previously described deleterious exonic variants and are associated with similar high lifetime risks...
Second to fourth digit ratio (2D:4D) and prostate cancer risk in the Melbourne Collaborative Cohort StudyD C Muller
Cancer Epidemiology Centre, Cancer Council of Victoria, Melbourne, Victoria, Australia
Br J Cancer 105:438-40. 2011..Recent studies have reported a strong association between 2D:4D and risk of prostate cancer...
Genetic factors associated with altered sodium transport in human hypertension: a twin studyC A Nowson
Department of Physiology, University of Melbourne, Parkville, Victoria, Australia
Clin Exp Pharmacol Physiol 24:424-6. 1997..22; P < 0.05) between mean arterial pressure and NHE. 3. It remains to be determined whether NHE in cheek cells is associated with blood pressure tracking over time in young females...
Familial patterns of covariation for cardiovascular risk factors in adults: The Victorian Family Heart StudyS B Harrap
Department of Physiology, University of Melbourne, Parkville, Victoria, Australia
Am J Epidemiol 152:704-15. 2000..On a background of genetic influences, there are periods in early life during which the family environment cements long-term correlations between adult relatives in cardiovascular risk factors...
HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosisKatrina J Allen
Murdoch Childrens Research Institute, Melbourne, Australia
Hepatology 52:925-33. 2010..These observations have implications for the management of C282Y homozygotes...
Antihypertensive treatments obscure familial contributions to blood pressure variationJisheng S Cui
Centre for Genetic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
Hypertension 41:207-10. 2003..Adding back an appropriate increment of pressure restores familial components, more closely reflects the pretreatment values, and should increase the power of genomic linkage and linkage disequilibrium analyses...
Circulating steroid hormone concentrations in postmenopausal women in relation to body size and compositionLaura Baglietto
Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Vic, Australia
Breast Cancer Res Treat 115:171-9. 2009..This effect requires around 6 years to be detectable by way of circulating steroid hormone levels...
Obesity and outcomes in premenopausal and postmenopausal breast cancerSherene Loi
Peter MacCallum Cancer Centre, 723 Swanston Street, Carlton, Victoria 3053, Australia
Cancer Epidemiol Biomarkers Prev 14:1686-91. 2005..Given the high and increasing prevalence of obesity in western countries, more research on improving the treatment of obese breast cancer patients is warranted...
Body size and composition and prostate cancer riskRobert J Macinnis
Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Victoria, Australia
Cancer Epidemiol Biomarkers Prev 12:1417-21. 2003..2 (95% confidence interval, 1.2-4.1). For each 10-kg increase in fat mass, the risk ratio was 1.4 (95% confidence interval, 1.0-1.8). Energy imbalance may play a role in the development of aggressive prostate cancer...
Average volume of alcohol consumed, type of beverage, drinking pattern and the risk of death from all causesLaura Baglietto
Cancer Epidemiology Centre, The Cancer Council of Victoria, Carlton VIC 3053, Melbourne, Australia
Alcohol Alcohol 41:664-71. 2006..04). CONCLUSIONS: These results confirm previous findings about the effect of average volume of alcohol and type of beverage and suggest that drinking pattern is an independent risk factor for all-cause mortality...
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...
Genes and family environment explain correlations between blood pressure and body mass indexJisheng Cui
Centre for Genetic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
Hypertension 40:7-12. 2002..In contrast, SBP and BMI share genetic and family environmental determinants to a lesser degree. These observations are relevant to multifactorial cardiovascular risk reduction based on genetic and family environmental approaches...
Is MSH2 a breast cancer susceptibility gene?Ee Ming Wong
Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne 3010, Australia
Fam Cancer 7:151-5. 2008..Extensive screening of 59 multiple-case breast cancer families did not identify any coding region mutations or larger genomic alterations in MSH2 that might implicate MSH2 as a breast cancer susceptibility gene...
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...
Genetic and environmental influences on variation in balance performance among female twin pairs aged 21-82 yearsNatalie El Haber
Department of Medicine, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia
Am J Epidemiol 164:246-56. 2006..An age-related decline in performance measures was found across the whole sample. These results imply that balance impairments may have a heritable element...
Common genetic variants associated with breast cancer and mammographic density measures that predict diseaseFabrice Odefrey
Department of Pathology and Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, University of Melbourne, Melbourne 3053, Australia
Cancer Res 70:1449-58. 2010..These findings could help elucidate how those variants and mammographic density measures are associated with breast cancer susceptibility...
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...
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...
Childhood eczema and asthma incidence and persistence: a cohort study from childhood to middle ageJohn A Burgess
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Carlton, Australia
J Allergy Clin Immunol 122:280-5. 2008..The association between eczema 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....
Research Grants
- AUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRYJohn Hopper; Fiscal Year: 2006..abstract_text> ..
- AUSTRALIAN BREAST CANCER FAMILY REGISTRYJohn Hopper; Fiscal Year: 2007....
- AUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRYJohn Hopper; Fiscal Year: 2007..i ..
