Research Topics
Genomes and Genes | J L HopperSummaryAffiliation: University of Melbourne Country: Australia Publications
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Publications
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...
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...- 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... - 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... - 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... - 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... - 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.... - 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... 
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...- 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... - 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... - 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... - Second to fourth digit ratio (2D:4D), breast cancer risk factors, and breast cancer risk: a prospective cohort studyD 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - Age-specific norms and determinants of anxiety and depression in 731 women with breast cancer recruited through a population-based cancer registryR H Osborne
Centre for Genetic Epidemiology, School of Population Health, The University of Melbourne, Carlton, Australia
Eur J Cancer 39:755-62. 2003..While brief scales such as the HADS are limited in their ability to accurately predict a clinical diagnosis, high scores identify those who may warrant referral for clinical evaluation... - Biological markers that predict clinical recurrence in ductal carcinoma in situ of the breastE Provenzano
Molecular Pathology Laboratory, Victorian Breast Cancer Research Consortium, The University of Melbourne, Parkville, Victoria 3052, Australia
Eur J Cancer 39:622-30. 2003..These data identify clinically and biologically relevant subcategories of DCIS lesions, an essential basis for improving management... - 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... - 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... - 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... - High and low mammographic density human breast tissues maintain histological differential in murine tissue engineering chambersG L Chew
Department of Surgery, St Vincent s Hospital, The University of Melbourne, Fitzroy, Melbourne, VIC 3065, Australia
Breast Cancer Res Treat 135:177-87. 2012..Our study provides a murine model for future studies into the biomolecular basis of MD as a risk factor for breast cancer... - Impaired glucose tolerance, hyperinsulinemia, and hypertriglyceridemia in Australian aborigines from the desertK O'Dea
Department of Medicine, Royal Melbourne Hospital, Victoria, Australia
Diabetes Care 11:23-9. 1988..The most striking difference between these desert Aborigines and previously studied coastal Aborigines from the same geographical region was the significantly higher insulin response.(ABSTRACT TRUNCATED AT 250 WORDS).. - Streptokinase increases luxury perfusion after strokeB Infeld
Department of Neurology, Royal Melbourne Hospital, Victoria, Australia
Stroke 27:1524-9. 1996..We aimed to study the effect of streptokinase on the nature of reperfusion and the relation between reperfusion and clinical outcome... - A prospective population-based study of menopausal symptomsL Dennerstein
Office for Gender and Health, Department of Psychiatry, The University of Melbourne, Parkville, Australia
Obstet Gynecol 96:351-8. 2000..To identify symptoms that change in prevalence and severity during midlife and evaluate their relationships to menopausal status, hormonal levels, and other factors... - Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studiesA Antoniou
Cancer Research U K Genetic Epidemiology Unit, Department of Public Health, University of Cambridge, Cambridge, United Kingdom
Am J Hum Genet 72:1117-30. 2003..The variation in risk by age at diagnosis of index case is consistent with the effects of other genes modifying cancer risk in carriers... - Smoking and risk of breast cancer in carriers of mutations in BRCA1 or BRCA2 aged less than 50 yearsA S Whittemore
Breast Cancer Res Treat 109:67-75. 2008..Previous studies in prevalent mutation carriers have not shown smoking to increase risk of breast cancer, but are subject to bias, because smoking decreases survival after breast cancer... - Cytomegalovirus, Epstein-Barr virus and risk of breast cancer before age 40 years: a case-control studyA 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... - 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... - CYP17 promoter polymorphism and breast cancer in Australian women under age forty yearsA B Spurdle
Cancer Unit, Joint Experimental Oncology Programme, The Queensland Institute of Medical Research, and The University of Queensland, Brisbane, Australia
J Natl Cancer Inst 92:1674-81. 2000..Because steroid hormone exposure is known to influence breast cancer risk, we conducted a population-based, case-control-family study to assess the relationship between the CYP17 promoter polymorphism and early-onset breast cancer... - Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family RegistryJ L Bernstein
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Hum Mutat 27:1122-8. 2006.... - The steroid 5alpha-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian womenA B Spurdle
Oncology Division, Joint Experimental Oncology Programme, The Queensland Institute of Medical Research, and The University of Queensland, Brisbane, QLD 4029 Australia
Cancer Epidemiol Biomarkers Prev 10:1287-93. 2001..4- to 1.7-fold, our results suggest that the SRD5A2 (TA)(9) allele is unlikely to be associated with moderate alterations in breast or ovarian cancer risk... - Alcohol, tobacco and breast cancer--collaborative reanalysis of individual data from 53 epidemiological studies, including 58,515 women with breast cancer and 95,067 women without the diseaseN Hamajima
Cancer Research UK Epidemiology Unit, Gibson Building, Radcliffe Infirmary, Woodstock Road, Oxford OX2 6HE, UK
Br J Cancer 87:1234-45. 2002.... - The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in AustraliaA Marsh
Queensland Institute of Medical Research, Brisbane, Queensland, Australia
Breast Cancer Res 3:346-9. 2001..0003). If this relatively frequent occurrence of G13964C in familial breast cancer and absence in control individuals were confirmed, then this would suggest that the G13964C variant plays a role in breast cancer susceptibility... - De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutationA Tesoriero
Am J Hum Genet 65:567-9. 1999 - Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studiesA C Antoniou
J Med Genet 42:602-3. 2005..These estimates appear to be consistent with the observed prevalence of the mutations in the Ashkenazi Jewish population... - Risk of prostate cancer associated with a family history in an era of rapid increase in prostate cancer diagnosis (Australia)M P Staples
National Cancer Control Initiative, Australia
Cancer Causes Control 14:161-6. 2003.... - Twin study of genetic and environmental influences on glucose tolerance and indices of insulin sensitivity and secretionK Schousboe
The Danish Twin Registry, Epidemiology, Institute of Public Health, University of Southern Denmark, Denmark
Diabetologia 46:1276-83. 2003..Our aims were to estimate these relative influences in a large sample of twins from the population and to assess the effect of age... - Androgenetic alopecia in men aged 40-69 years: prevalence and risk factorsG Severi
Division of Epidemiology and Biostatistics, European Institute of Oncology, Milan, Italy
Br J Dermatol 149:1207-13. 2003..The associations that we found with alcohol consumption and with lean body mass at age 21 years would be worthy of further research if they were able to be replicated in other studies... - Oral contraceptive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutationsA S Whittemore
Department of Health Research and Policy, Stanford University School of Medicine, HRP Redwood Building, Stanford, CA 94305 5405, USA
Br J Cancer 91:1911-5. 2004..Use for 6 or more years was associated with an odds-ratio of 0.62 (0.35-1.09). These data support the hypothesis that long-term oral contraceptive use reduces the risk of ovarian cancer among women who carry mutations of BRCA1 or BRCA2... - A discrete choice experiment of preferences for genetic counselling among Jewish women seeking cancer genetics servicesS 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... - A simple tool for identifying unaffected women at a moderately increased or potentially high risk of breast cancer based on their family historyT J Fisher
National Breast Cancer Centre, New South Wales, Australia
Breast 12:120-7. 2003.... - Twin study of genetic and environmental influences on adult body size, shape, and compositionK Schousboe
The Danish Twin Registry, Epidemiology, Institute of Public Health, University of Southern Denmark, Denmark
Int J Obes Relat Metab Disord 28:39-48. 2004..To investigate the genetic and environmental influences on adult body size, shape, and composition in women and men, and to assess the impact of age... - SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosisClare C Constantine
The Centre for Molecular, Environmental, Genetic and Analytic MEGA Epidemiology, School of Population Health, The University of Melbourne, Melbourne, Australia
BMC Med Genet 9:18. 2008..We report our experience of selecting tag SNPs in 35 genes involved in iron metabolism in a cohort study seeking to discover genetic modifiers of hereditary hemochromatosis... - Risk factors for breast cancer in young women by oestrogen receptor and progesterone receptor statusM 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... - Determinants of bone density in 30- to 65-year-old women: a co-twin studyR J MacInnis
Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Australia
J Bone Miner Res 18:1650-6. 2003..Effect sizes varied by site. Characterization of determinants of bone mineral density in midlife and thereafter may lead to interventions that could minimize postmenopausal bone loss and reduce osteoporotic fracture risk... - The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensionsA C Antoniou
Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
Br J Cancer 98:1457-66. 2008..BOADICEA can be used to predict carrier probabilities and cancer risks to individuals with any family history, and has been implemented in a user-friendly Web-based program (http://www.srl.cam.ac.uk/genepi/boadicea/boadicea_home.html)...