J L Hopper

Summary

Affiliation: University of Melbourne
Country: Australia

Publications

  1. pmc A genome-wide linkage study of mammographic density, a risk factor for breast cancer
    Celia 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
  2. pmc Increased cancer risks for relatives of very early-onset breast cancer cases with and without BRCA1 and BRCA2 mutations
    G 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
  3. pmc Morphological predictors of BRCA1 germline mutations in young women with breast cancer
    M C Southey
    Department of Pathology, Genetic Epidemiology Laboratory, Victoria, Carlton, Australia
    Br J Cancer 104:903-9. 2011
  4. pmc Measuring, and identifying predictors of women's perceptions of three types of breast cancer risk: population risk, absolute risk and comparative risk
    C 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
  5. pmc Cytomegalovirus, Epstein-Barr virus and risk of breast cancer before age 40 years: a case-control study
    A K Richardson
    Department of Public Health and General Practice, Christchurch School of Medicine and Health Sciences, University of Otago, PO Box 4345, Christchurch, New Zealand
    Br J Cancer 90:2149-52. 2004
  6. pmc Population-based estimate of prostate cancer risk for carriers of the HOXB13 missense mutation G84E
    Robert J Macinnis
    Cancer Epidemiology Centre, Cancer Council Victoria, Victoria, Australia
    PLoS ONE 8:e54727. 2013
  7. pmc A discrete choice experiment of preferences for genetic counselling among Jewish women seeking cancer genetics services
    S Peacock
    British Columbia Cancer Agency, Cancer Control Research, Vancouver, British Columbia, Canada
    Br J Cancer 95:1448-53. 2006
  8. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
  9. pmc Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
    Joan E Bailey-Wilson
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    BMC Med Genet 13:46. 2012
  10. pmc The use of DNA from archival dried blood spots with the Infinium HumanMethylation450 array
    Jihoon E Joo
    Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Victoria, 3010, Australia
    BMC Biotechnol 13:23. 2013

Research Grants

  1. AUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRY
    John Hopper; Fiscal Year: 2006
  2. AUSTRALIAN BREAST CANCER FAMILY REGISTRY
    John Hopper; Fiscal Year: 2007
  3. AUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRY
    John Hopper; Fiscal Year: 2007

Detail Information

Publications184 found, 100 shown here

  1. pmc A genome-wide linkage study of mammographic density, a risk factor for breast cancer
    Celia 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)...
  2. pmc Increased cancer risks for relatives of very early-onset breast cancer cases with and without BRCA1 and BRCA2 mutations
    G 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...
  3. pmc Morphological predictors of BRCA1 germline mutations in young women with breast cancer
    M 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...
  4. pmc Measuring, and identifying predictors of women's perceptions of three types of breast cancer risk: population risk, absolute risk and comparative risk
    C 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...
  5. pmc Cytomegalovirus, Epstein-Barr virus and risk of breast cancer before age 40 years: a case-control study
    A K Richardson
    Department of Public Health and General Practice, Christchurch School of Medicine and Health Sciences, University of Otago, PO Box 4345, Christchurch, New Zealand
    Br J Cancer 90:2149-52. 2004
    ..11 (0.93-1.33) for EBV IgG. The higher mean CMV IgG levels found in women with breast cancer could be the result of a more recent infection with CMV, and may mean that late exposure to CMV is a risk factor for breast cancer...
  6. pmc Population-based estimate of prostate cancer risk for carriers of the HOXB13 missense mutation G84E
    Robert J Macinnis
    Cancer Epidemiology Centre, Cancer Council Victoria, Victoria, Australia
    PLoS ONE 8:e54727. 2013
    ....
  7. pmc A discrete choice experiment of preferences for genetic counselling among Jewish women seeking cancer genetics services
    S Peacock
    British Columbia Cancer Agency, Cancer Control Research, Vancouver, British Columbia, Canada
    Br J Cancer 95:1448-53. 2006
    ..There were differences between the women in which aspects they most favoured, suggesting that counselling that elicits and responds to clients' preferences is more likely to meet clients' needs...
  8. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
    ..2)...
  9. pmc Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
    Joan E Bailey-Wilson
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    BMC Med Genet 13:46. 2012
    ..Current evidence suggests that genetic linkage to prostate cancer has been found on several chromosomes including the X; however, identification of causative genes has been elusive...
  10. pmc The use of DNA from archival dried blood spots with the Infinium HumanMethylation450 array
    Jihoon E Joo
    Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Victoria, 3010, Australia
    BMC Biotechnol 13:23. 2013
    ....
  11. doi request reprint Australian Twin Registry: 30 years of progress
    John L Hopper
    University of Melbourne, Melbourne, Australia
    Twin Res Hum Genet 16:34-42. 2013
    ..The ATR's expertise and 30 years of experience in providing services to national and international twin studies has made it an important resource for research across a broad range of disciplines...
  12. doi request reprint Does eczema in infancy cause hay fever, asthma, or both in childhood? Insights from a novel regression model of sibling data
    John 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...
  13. pmc 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 BRCA1/2
    Anna 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...
  14. doi request reprint Inference about causation from examination of familial confounding: application to longitudinal twin data on mammographic density measures that predict breast cancer risk
    Jennifer 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...
  15. doi request reprint Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers
    J 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...
  16. pmc Second to fourth digit ratio (2D:4D) and concentrations of circulating sex hormones in adulthood
    David 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...
  17. pmc Australian clinicians and chemoprevention for women at high familial risk for breast cancer
    Louise A Keogh
    Centre for MEGA Epidemiology, School of Population Health, University of Melbourne, Australia
    Hered Cancer Clin Pract 7:9. 2009
    ....
  18. pmc Rare variants in the ATM gene and risk of breast cancer
    David 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...
  19. pmc Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study
    Florence 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...
  20. pmc 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 Registry
    Letitia 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...
  21. pmc 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 study
    Roger 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
    ....
  22. pmc Using mammographic density to predict breast cancer risk: dense area or percentage dense area
    Jennifer 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)...
  23. pmc A PALB2 mutation associated with high risk of breast cancer
    Melissa 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...
  24. pmc 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...
  25. pmc 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...
  26. pmc The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Amanda 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...
  27. pmc The AIB1 glutamine repeat polymorphism is not associated with risk of breast cancer before age 40 years in Australian women
    Karen 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...
  28. pmc Is there a positive association between mammographic density and bone mineral density?
    Gillian S Dite
    Breast Cancer Res 8:401. 2006
  29. pmc CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study
    Jiun 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...
  30. pmc The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer
    Esther 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
    ....
  31. pmc 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 age
    Lidija 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
    ....
  32. pmc The 4q27 locus and prostate cancer risk
    Elizabeth 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...
  33. pmc 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...
  34. ncbi request reprint A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer
    John L Hopper
    Centre for Genetic Epidemiology, The University of Melbourne, Carlton, Victoria, Australia
    Hum Mutat 26:298-302. 2005
    ....
  35. ncbi request reprint Oral contraceptive use and risk of early-onset breast cancer in carriers and noncarriers of BRCA1 and BRCA2 mutations
    Roger 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...
  36. ncbi request reprint Application of genetics to the prevention of colorectal cancer
    John 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
    ....
  37. ncbi request reprint Population-based family studies in genetic epidemiology
    John 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...
  38. ncbi request reprint Uptake of offer to receive genetic information about BRCA1 and BRCA2 mutations in an Australian population-based study
    Louise A Keogh
    Centre for Genetic Epidemiology, University of Melbourne, 723 Swanston Street, Carlton, Victoria 3053, Australia
    Cancer Epidemiol Biomarkers Prev 13:2258-63. 2004
    ....
  39. ncbi request reprint Genetic epidemiology of female breast cancer
    J 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...
  40. pmc Disease-specific prospective family study cohorts enriched for familial risk
    John 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...
  41. ncbi request reprint The Australian Twin Registry
    John L Hopper
    Centre for Genetic Epidemiology, The University of Melbourne, Carlton, Vic, Australia
    Twin Res 5:329-36. 2002
    ....
  42. doi request reprint Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers
    John L Hopper
    Centre for Molecular, Analytic, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Australia
    J Med Genet 45:409-10. 2008
  43. ncbi request reprint Australian Twin Registry: a nationally funded resource for medical and scientific research, incorporating match and WATCH
    John 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...
  44. ncbi request reprint 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 Study
    J 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...
  45. pmc Segregation analyses of 1,476 population-based Australian families affected by prostate cancer
    J 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...
  46. pmc Prospective validation of the breast cancer risk prediction model BOADICEA and a batch-mode version BOADICEACentre
    R J MacInnis
    Cancer Epidemiology Centre, Cancer Council Victoria, Victoria, Melbourne, Australia
    Br J Cancer 109:1296-301. 2013
    ..It is uncertain whether BOADICEA performs adequately for populations outside the United Kingdom...
  47. ncbi request reprint CFTR deltaF508 carrier status, risk of breast cancer before the age of 40 and histological grading in a population-based case-control study
    M 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...
  48. ncbi request reprint Sexuality, hormones and the menopausal transition
    L 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...
  49. ncbi request reprint A prospective study of bone loss in menopausal Australian-born women
    J 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...
  50. ncbi request reprint Bone turnover markers and bone density across the menopausal transition
    P 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...
  51. pmc Adequacy of risk-reducing gynaecologic surgery in BRCA1 or BRCA2 mutation carriers and other women at high risk of pelvic serous cancer
    B 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...
  52. ncbi request reprint Validation study of the LAMBDA model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish women
    C 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...
  53. ncbi request reprint Estrogen receptor polymorphism at codon 325 and risk of breast cancer in women before age forty
    M 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...
  54. doi request reprint Sibship analysis of associations between SNP haplotypes and a continuous trait with application to mammographic density
    J 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...
  55. ncbi request reprint Predictors of the use of complementary and alternative medicine (CAM) by women at high risk for breast cancer
    K 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...
  56. doi request reprint Relevance of the hygiene hypothesis to early vs. late onset allergic rhinitis
    M 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...
  57. ncbi request reprint Prospectively measured levels of serum follicle-stimulating hormone, estradiol, and the dimeric inhibins during the menopausal transition in a population-based cohort of women
    H G Burger
    Prince Henry s Institute of Medical Research, Monash Medical Centre, Clayton, Victoria, Australia
    J Clin Endocrinol Metab 84:4025-30. 1999
    ....
  58. ncbi request reprint Smoking and prostate cancer: findings from an Australian case-control study
    G 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...
  59. pmc Predictors of mammographic density: insights gained from a novel regression analysis of a twin study
    Gillian 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...
  60. ncbi request reprint Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations
    Gillian S Dite
    Centre for Genetic Epidemiology, The University of Melbourne, Melbourne, Australia
    J Natl Cancer Inst 95:448-57. 2003
    ....
  61. ncbi request reprint Regressive logistic and proportional hazards disease models for within-family analyses of measured genotypes, with application to a CYP17 polymorphism and breast cancer
    Jisheng 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...
  62. pmc BRCA1 promoter deletions in young women with breast cancer and a strong family history: a population-based study
    L 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...
  63. ncbi request reprint Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospective cohort study
    K 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...
  64. ncbi request reprint A prospective longitudinal study of serum testosterone, dehydroepiandrosterone sulfate, and sex hormone-binding globulin levels through the menopause transition
    H 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...
  65. doi request reprint Dynamic changes in high and low mammographic density human breast tissues maintained in murine tissue engineering chambers during various murine peripartum states and over time
    G L Chew
    Department of Surgery, St Vincent s Hospital, University of Melbourne, Fitzroy, Vic, Australia
    Breast Cancer Res Treat 140:285-97. 2013
    ..These findings demonstrate the dynamic nature of the human MD xenograft model, providing a platform for studying the biomolecular basis of MD-associated cancer risk. ..
  66. pmc Second to fourth digit ratio (2D:4D), breast cancer risk factors, and breast cancer risk: a prospective cohort study
    D C Muller
    Cancer Epidemiology Centre, Cancer Council Victoria, 100 Drummond Street, Carlton South, Victoria 3053, Australia
    Br J Cancer 107:1631-6. 2012
    ..We aimed to assess whether 2D:4D measures are associated with breast cancer risk...
  67. pmc Plasma concentration of Propionibacterium acnes antibodies and prostate cancer risk: results from an Australian population-based case-control study
    G 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...
  68. pmc BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer
    M 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...
  69. ncbi request reprint Childhood adiposity predicts adult-onset current asthma in females: a 25-yr prospective study
    J 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...
  70. pmc Tumour morphology predicts PALB2 germline mutation status
    Z L Teo
    Genetic Epidemiology Laboratory, The University of Melbourne, Melbourne, Victoria 3010, Australia
    Br J Cancer 109:154-63. 2013
    ..We sought to determine whether morphological features of breast tumours can predict PALB2 germline mutation status...
  71. ncbi request reprint Power of regression and maximum likelihood methods to map QTL from sib-pair and DZ twin data
    P 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...
  72. doi request reprint Prospective study of breast cancer risk for mutation negative women from BRCA1 or BRCA2 mutation positive families
    S 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...
  73. ncbi request reprint The value of the Hospital Anxiety and Depression Scale (HADS) for comparing women with early onset breast cancer with population-based reference women
    R 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...
  74. pmc Risks of Lynch syndrome cancers for MSH6 mutation carriers
    Laura 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...
  75. ncbi request reprint Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaboration
    Lata Vadlamudi
    Epilepsy Research Centre, Department of Medicine Neurology, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
    Epilepsia 47:550-5. 2006
    ..We analyzed a large sample of twins from four international twin registers to probe the genetics of BRE. We also aim to synthesize the apparently conflicting family and twin data into a model of BRE etiology...
  76. ncbi request reprint Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families
    A 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...
  77. ncbi request reprint Epilepsy in twins: insights from unique historical data of William Lennox
    L Vadlamudi
    Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia
    Neurology 62:1127-33. 2004
    ....
  78. ncbi request reprint Changes in body composition as determinants of longitudinal changes in bone mineral measures in 8 to 26-year-old female twins
    D Young
    The University of Melbourne, Department of General Practice and Public Health, Carlton, Victoria, Australia
    Osteoporos Int 12:506-15. 2001
    ....
  79. ncbi request reprint Dietary intake of B vitamins and methionine and risk of lung cancer
    J 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...
  80. doi request reprint Consumption of animal products, their nutrient components and postmenopausal circulating steroid hormone concentrations
    M 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)...
  81. ncbi request reprint Mammographic density and candidate gene variants: a twins and sisters study
    Jennifer 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...
  82. pmc Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes
    A 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...
  83. pmc The role of SMAD4 in early-onset colorectal cancer
    S 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...
  84. ncbi request reprint 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 clinics
    Clare 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...
  85. pmc Risk factors for breast cancer in young women by oestrogen receptor and progesterone receptor status
    M R E McCredie
    Department of Preventive and Social Medicine, University of Otago, Dunedin, New Zealand
    Br J Cancer 89:1661-3. 2003
    ..As hypothesised, no significant differences were found...
  86. ncbi request reprint Parity and decreased use of oral contraceptives as predictors of asthma in young women
    M A Jenkins
    Department of Public Health, The University of Melbourne, Carlton, VIC 3053, Australia
    Clin Exp Allergy 36:609-13. 2006
    ..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...
  87. ncbi request reprint 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 cancer
    J 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...
  88. pmc 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...
  89. pmc Dietary patterns and risk of breast cancer
    L 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...
  90. ncbi request reprint The common variant rs1447295 on chromosome 8q24 and prostate cancer risk: results from an Australian population-based case-control study
    Gianluca Severi
    Cancer Epidemiology Centre, The Cancer Council Victoria, 1 Rathdowne Street, Carlton, Victoria 3053, Australia
    Cancer Epidemiol Biomarkers Prev 16:610-2. 2007
    ....
  91. doi request reprint 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...
  92. ncbi request reprint Cancer risk management practices of noncarriers within BRCA1/2 mutation positive families in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer
    Sarah 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...
  93. pmc Rare mutations in XRCC2 increase the risk of breast cancer
    D 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...
  94. ncbi request reprint Familial patterns of covariation for cardiovascular risk factors in adults: The Victorian Family Heart Study
    S 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...
  95. ncbi request reprint Genetic factors associated with altered sodium transport in human hypertension: a twin study
    C 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...
  96. pmc Second to fourth digit ratio (2D:4D) and prostate cancer risk in the Melbourne Collaborative Cohort Study
    D 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...
  97. doi request reprint Common genetic variants associated with breast cancer and mammographic density measures that predict disease
    Fabrice 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...
  98. ncbi request reprint Microsatellite instability markers for identifying early-onset colorectal cancers caused by germ-line mutations in DNA mismatch repair genes
    Leeanne 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...
  99. ncbi request reprint Obesity and outcomes in premenopausal and postmenopausal breast cancer
    Sherene Loi
    Peter MacCallum Cancer Centre, 723 Swanston Street, Carlton, Victoria 3053, Australia
    Cancer Epidemiol Biomarkers Prev 14:1686-91. 2005
    ..Obesity is associated with adverse outcomes in postmenopausal women with breast cancer. In premenopausal women, the association is less clear...
  100. ncbi request reprint 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...
  101. ncbi request reprint Average volume of alcohol consumed, type of beverage, drinking pattern and the risk of death from all causes
    Laura Baglietto
    Cancer Epidemiology Centre, The Cancer Council of Victoria, Carlton VIC 3053, Melbourne, Australia
    Alcohol Alcohol 41:664-71. 2006
    ..The objective was to investigate associations between average volume of alcohol consumption, type of beverage and drinking pattern and all-cause mortality in the Melbourne Collaborative Cohort Study...

Research Grants5

  1. AUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRY
    John Hopper; Fiscal Year: 2006
    ..abstract_text> ..
  2. AUSTRALIAN BREAST CANCER FAMILY REGISTRY
    John Hopper; Fiscal Year: 2007
    ....
  3. AUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRY
    John Hopper; Fiscal Year: 2007
    ..i ..