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A/PROF MELISSA SOUTHEY



Contact Details

Organization: Pathology
Position: PRINCIPAL RESEARCH FELLOW
Email:
Homepage: http://www.path.unimelb.edu.au/research/labs/gel/
Work: 8344 4895
Building: Medical Centre
Campus: Parkville

Research Expertise and International Linkages

Research Expertise

Research Interest Key Words Country of Expertise
Genetic epidemiology of cancer molecular genetics, molecular pathology Australia, United States of America

International Linkages

Country Establishment Collaboration
United Kingdom University of Cambridge Exchange, Research, Teaching, Technical Assistance/Training
France International Agency for Research on Cancer Exchange, Research, Teaching, Technical Assistance/Training
Spain Centro Nacional de Investigaciones Oncologicas Exchange, Research, Teaching, Technical Assistance/Training
United States Stanford University Exchange, Research, Teaching, Technical Assistance/Training
United States Columbia University Exchange, Research, Teaching, Technical Assistance/Training
United Kingdom University College London Exchange, Research, Teaching, Technical Assistance/Training
Canada McGill University Exchange, Research, Teaching, Technical Assistance/Training
United States Utah State University Exchange, Research, Teaching, Technical Assistance/Training

Qualifications, Honours, Fellowships and Other Awards

Qualifications

Title Institution Date Awarded Abbreviation
Bachelor of Science (honours) University of Melbourne 31-Dec-1988
Graduate Diploma University of Melbourne 31-Dec-1996
Doctor of Philosophy University of Melbourne 31-Dec-1993

Memberships

Membership Type Membership Body Description Start Date End Date
Member Australian Society for Biochemistry and Molecular Biology Member 01-Jan-1989
Member KConFab Member 01-Jan-1996
Member Human Genetics Society of Australasia Member 01-Jan-1995
Member InSiGHT Member 01-Jan-2004

Government Research Classifications

Research Fields, Courses and Discipline Classifications

Socio-Economic Objective Classifications

Grants and Contracts

Research Grants, Contracts and Consultancies awarded to the University of Melbourne as the administering institution (since 2003) as recorded in Themis Agreements.

Grants

Title Role Funding Source Scheme Award Date
MUTATIONS IN STEROID HORMONE METABOLISM GENES AND RISK OF BREAST CANCER Chief Investigator NATIONAL BREAST CANCER FOUNDATION Kathleen Cunningham Research Grant 01/01/2006
REGULATION OF BREAST CANCER GENES Chief Investigator UNIVERSITY OF QUEENSLAND Project Grants (NHMRC) 01/01/2006
MYELOID LEUKAEMIA SUPPRESSOR GENES OF MOUSE AND MAN Chief Investigator CANCER COUNCIL VICTORIA Grants-in-Aid 01/01/2006
"Germline mutations in mismatch repair genes: prevalence, risk of cancer, and environmental modifiers of risk." Chief Investigator NHMRC Project Grants 01/01/2006
THE HEALTH 2020 COHORT STUDY (HEALTH 2020) Chief Investigator CANCER COUNCIL VICTORIA Enabling Grant (NHMRC) 01/01/2007
ALTERNATE MECHANISMS FOR BRCA1 SILENCING IN YOUNG WOMEN WITH BREAST CANCER Principal Supervisor NHMRC Dora Lush Biomedical Postgraduate Scholarship 01/01/2007
NHMRC Research Fellowship Chief Investigator NHMRC Research Fellowship 01/01/2008
INFECTIONS, INFLAMMATORY MARKERS AND PROSTATE CANCER RISK Chief Investigator CANCER COUNCIL VICTORIA Project Grants (NHMRC) 01/01/2008
Prostate Cancer Foundation of Australia - equipment grant Chief Investigator PROSTATE CANCER FOUNDATION OF AUST Equipment Grant 01/01/2008
New gene for BRCA1-like early-onset breast cancer Chief Investigator CANCER AUSTRALIA,
NATIONAL BREAST CANCER FOUNDATION		 Priority-Driven Collaborative Cancer Research Scheme (CANCER AUSTRALIA) 05/02/2008
WHICH GENES EXPLAIN WHY WOMEN DIFFER SO MUCH IN THE BRIGHTNESS OF THEIR MAMMOGRAMS, AND HENCE THEIR BREAST CANCER RISK? Chief Investigator CANCER AUSTRALIA,
NATIONAL BREAST CANCER FOUNDATION		 Priority-Driven Collaborative Cancer Research Scheme (CANCER AUSTRALIA) 01/04/2008
Translation of mammographic density, a strong and heritable risk factor for breast cancer, into clinical practice. Chief Investigator VIC BREAST CANCER RESEARCH CONSORTIUM INC Translational Breast Cancer Research Grants 01/07/2009
Discovering new genes for bowel cancer Chief Investigator NHMRC Project Grants 01/01/2010

Contracts

Title Role Funding Source Award Date
Victorian Breast Cancer Research Consortium Chief Investigator VIC BREAST CANCER RESEARCH CONSORTIUM INC 01/01/2007
BREAST CANCER LINKAGE STUDY Chief Investigator TRANSLATIONAL GENOMICS RESEARCH INSTITUTE (TGEN) 06/10/2008

Publications

Publications produced at the University of Melbourne and reported in the Annual Publications Collection and 'Research Report' since 2001. The Themis Publications module, released in November 2006, allows additional publications from previous institutions and publications from past years to be entered.

Publications in 2009

Journal Articles

  • BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research
    Year: 2009
    Journal: Breast Cancer Research and Treatment
    Volume: 116
    Page numbers: 379-386
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  • Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry


    Year: 2009
    Journal: Breast Cancer Research and Treatment
    Volume: 117
    Page numbers: 167-176
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  • Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs-13387042


    Year: 2009
    Journal: Journal of the National Cancer Institute
    Volume: 101
    Page numbers: 1012-1018
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  • A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis
    Year: 2009
    Journal: British Journal of Haematology
    Volume: 147
    Page numbers: 140-149
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  • Family-based genetic association study of insulin-like growth factor I microsatellite markers and premenopausal breast cancer risk
    Year: 2009
    Journal: Breast Cancer Research and Treatment
    Volume: 118
    Page numbers: 415-424
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  • Identification of new genetic risk factors for prostate cancer
    Year: 2009
    Journal: Asian Journal of Andrology
    Volume: 11
    Page numbers: 49-55
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  • No evidence that GATA3 rs570613 SNP modifies breast cancer risk
    Year: 2009
    Journal: Breast Cancer Research and Treatment
    Volume: 117
    Page numbers: 371-379
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  • The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analysis
    Year: 2009
    Journal: Breast Cancer Research and Treatment
    Volume: 115
    Page numbers: 145-150
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Publications in 2008

Journal Articles

  • Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics


    Year: 2008
    Journal: PLoS Genetics
    Volume: 4
    Issue: 4
    Page numbers: 1-10
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  • No association between common chemokine and chemokine receptor gene variants and prostate cancer risk


    Year: 2008
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 17
    Issue: 12
    Page numbers: 3615-3617
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  • Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer


    Year: 2008
    Journal: Human Molecular Genetics
    Volume: 17
    Issue: 23
    Page numbers: 3720-3727
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  • The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions


    Year: 2008
    Journal: British Journal of Cancer
    Volume: 98
    Page numbers: 1457-1466
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  • The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women


    Year: 2008
    Journal: Breast Cancer Research and Treatment
    Volume: 112
    Issue: 1
    Page numbers: 35-39
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  • A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
    Year: 2008
    Journal: Nature Genetics
    Volume: 40
    Issue: 5
    Page numbers: 623-630
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  • Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?
    Year: 2008
    Journal: Breast Cancer Research
    Volume: 10
    Page numbers: 208-214
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  • Association of a common AKAP9 variant with breast cancer risk: A collaborative analysis
    Year: 2008
    Journal: Journal of the National Cancer Institute
    Volume: 100
    Page numbers: 437-442
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  • Ethnicity and risk for colorectal cancers showing somatic BRAF V600E mutation or CpG island methylator phenotype
    Year: 2008
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 17
    Issue: 7
    Page numbers: 1774-1780
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  • Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry
    Year: 2008
    Journal: Breast Cancer Research and Treatment
    Volume: 117
    Page numbers: 167-176
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  • Is BRCA2 c.9079 G > A a predisposing variant for early onset breast cancer?
    Year: 2008
    Journal: Breast Cancer Research and Treatment
    Volume: 109
    Page numbers: 177-179
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  • Multiple newly identified loci associated with prostate cancer susceptibility
    Year: 2008
    Journal: Nature Genetics
    Volume: 40
    Issue: 3
    Page numbers: 316-321
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  • Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL consortium
    Year: 2008
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 17
    Issue: 8
    Page numbers: 2052-2061
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  • Penetrance analysis of the PALB2 c.1592delT founder mutation
    Year: 2008
    Journal: Clinical Cancer Research
    Volume: 14
    Issue: 14
    Page numbers: 4667-4671
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  • Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies
    Year: 2008
    Journal: Breast Cancer Research and Treatment
    Volume: 109
    Page numbers: 91-99
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  • SNP selection for genes of iron metabolism ina study of genetic modifiers of hemochromatosis
    Year: 2008
    Journal: BMC Medical Genetics
    Volume: 2008
    Page numbers: 9-18
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  • The natural history of serum iron indices for HFE C282Y homozygosity associated with heredityary hemochromatosis
    Year: 2008
    Journal: Gastroenterology
    Volume: 135
    Page numbers: 1945-1952
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  • Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers
    Year: 2008
    Journal: Journal of Medical Genetics
    Volume: 45
    Page numbers: 409-410
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Publications in 2007

Journal Articles

  • BRCA1 promoter deletions in young women with breast cancer and a strong family history: A population-based study
    Year: 2007
    Journal: European Journal of Cancer
    Volume: 43
    Page numbers: 823-827
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  • A Range of Simple Summary Genome-Wide Statistics for Detecting Genetic Linkage using High Density Marker Data


    Year: 2007
    Journal: Genetic Epidemiology
    Volume: 31
    Page numbers: 565-576
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  • A common coding variant in CASP8 is associated with breast cancer risk


    Year: 2007
    Journal: Nature Genetics
    Volume: 39
    Issue: 3
    Page numbers: 352-358
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  • A systematic approach to analysing gene-gene interactions: polymorphisms at the microsomal Epoxide Hydrolase EPHX and Glutathione S-transferase GSTM1, GSTT1, and GSTP1 loci and breast cancer risk


    Year: 2007
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 16
    Issue: 4
    Page numbers: 769-774
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  • Genomewide high-density SNP linkage analysis of non-BRA+CA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies


    Year: 2007
    Journal: BMC Genomics
    Volume: 8
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  • Is MSH2 a breast cancer susceptibility gene?


    Year: 2007
    Journal: Familial Cancer
    Volume: 10
    Page numbers: 9162-9168
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  • Mammographic density and candidate gene variants: a twins and sisters study


    Year: 2007
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 16
    Issue: 7
    Page numbers: 1479-1484
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  • Microsatellite instability markers for identifying early-onset colorectal cancers caused by germ-line mutations in DNA mismatch repair genes


    Year: 2007
    Journal: Clinical Cancer Research
    Volume: 13
    Issue: 10
    Page numbers: 2865-2869
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  • Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability


    Year: 2007
    Journal: Breast Cancer Research and Treatment
    Volume: 104
    Issue: 3
    Page numbers: 257-266
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  • Uncommon CHEK2 mis-sense variant and reduced risk of tobacco-related cancers: case-control study


    Year: 2007
    Journal: Human Molecular Genetics
    Volume: 16
    Issue: 15
    Page numbers: 1794-1801
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  • An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)
    Year: 2007
    Journal: Breast Cancer Research
    Volume: 9
    Page numbers: 104-107
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  • Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set
    Year: 2007
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 16
    Issue: 12
    Page numbers: 2557-2565
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  • BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue arrays
    Year: 2007
    Journal: American Journal of Surgical Pathology
    Volume: 31
    Issue: 1
    Page numbers: 121-128
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  • Genome-wide association study identifies novel breast cancer susceptibility loci
    Year: 2007
    Journal: Nature
    Volume: 447
    Issue: 28 June
    Page numbers: 1087-1095
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  • Iron-overload-related disease in HFE Hereditary Hemochromatosis
    Year: 2007
    Journal: New England Journal of Medicine
    Volume: 358
    Issue: 3
    Page numbers: 221-230
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  • Medical radiation exposure and breast cancer risk: Findings from the Breast Cancer Family Registry
    Year: 2007
    Journal: International Journal of Cancer
    Volume: 121
    Page numbers: 386-394
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  • RAD51 135G→modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
    Year: 2007
    Journal: American Journal of Human Genetics
    Volume: 81
    Page numbers: 1186-1200
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  • Smoking and risk of breast cancer in carriers of mutations in BRCA1 or BRCA2 aged less than 50 years
    Year: 2007
    Journal: Breast Cancer Research and Treatment
    Volume: 10
    Page numbers: 9621-9629
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  • The Common Variant rs1447295 on Chromosome 8q24 and Prostate Cancer Risk: Results from an Australian Population-Based Case-Control Study
    Year: 2007
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 16
    Issue: 3
    Page numbers: 610-612
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  • The rs743572 common variant in the promoter of CYP17A1 is not associated with prostate cancer risk or circulating hormonal levels
    Year: 2007
    Journal: BJU International
    Volume: 101
    Page numbers: 492-496
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  • Validation study of the LAMBDA model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish women
    Year: 2007
    Journal: Clinical Genetics
    Volume: 72
    Page numbers: 87-97
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Publications in 2006

Journal Articles

  • 5α-reductase type 2  gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia
    Year: 2006
    Journal: International Journal of Cancer
    Volume: 120
    Page numbers: 776-780
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  • BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50
    Year: 2006
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 15
    Issue: 10
    Page numbers: 1863-1870
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  • Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource


    Year: 2006
    Journal: Breast Cancer Research
    Volume: 8
    Page numbers: R12
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  • Chromosome 2q24.2 is lost in sporadic but not in BRCA1-associated ovarian carcinomas


    Year: 2006
    Journal: Pathology
    Volume: 38
    Issue: 2
    Page numbers: 145-151
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  • Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance


    Year: 2006
    Journal: Cancer Research
    Volume: 66
    Issue: 4
    Page numbers: 2019-2027
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  • Variants in the Prostate-Specific Antigen (PSA) gene and prostate cancer risk, survival and circulating PSA


    Year: 2006
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 15
    Issue: 6
    Page numbers: 1142-1147
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  • A genome wide linkage search for breast cancer susceptibility genes
    Year: 2006
    Journal: Genes, Chromosomes & Cancer
    Volume: 45
    Page numbers: 646-655
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  • Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study.
    Year: 2006
    Journal: Clinical Gastroenterology and Hepatology
    Volume: 4
    Page numbers: 489-498
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  • Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling
    Year: 2006
    Journal: Genes, Chromosomes & Cancer
    Volume: 45
    Page numbers: 1169-1181
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  • Evaluation of models to predict BRCA germline mutations
    Year: 2006
    Journal: British Journal of Cancer
    Volume: 95
    Page numbers: 914-920
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  • Genetic, functional and histopathological evaluation of two C-terminal BRCA1 missense variants
    Year: 2006
    Journal: Journal of Medical Genetics
    Volume: 43
    Issue: 1
    Page numbers: 74-83
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  • Histopathological features of breast cancer in carriers of  ATM gene variants
    Year: 2006
    Journal: Histopathology
    Volume: 49
    Page numbers: 523-532
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  • IN REPLY: Is it time to abandon microsatellite instability as a pre-screen for selecting families for mutation testing for mismatch repair genes?
    Year: 2006
    Journal: Journal of Clinical Oncology
    Volume: 24
    Issue: 12
    Page numbers: 1962-1963
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  • Large genomic alterations in hMSH2 and hMLH1 in early-onset colorectal cancer: identification of a large complex de novo hMLH1 alteration
    Year: 2006
    Journal: Clinical Genetics
    Volume: 70
    Page numbers: 250-252
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  • Low somatic K-ras mutation frequency in colorectal cancer diagnosed under the age of 45 years
    Year: 2006
    Journal: European Journal of Cancer
    Volume: 42
    Page numbers: 1357-1361
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  • Macrophage inhibitory cytokine-1 H6D polymorphism, prostate cancer risk, and survival
    Year: 2006
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 15
    Issue: 6
    Page numbers: 1223-1225
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  • Morphology of breast cancer as a means of triage of patients for BRCA1 genetic testing
    Year: 2006
    Journal: American Journal of Surgical Pathology
    Volume: 30
    Issue: 11
    Page numbers: 1357-1366
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  • No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 years
    Year: 2006
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 15
    Issue: 8
    Page numbers: 1565-1567
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  • 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 Registry
    Year: 2006
    Journal: Human Mutation
    Volume: 27
    Issue: 11
    Page numbers: 1122-1128
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  • Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancer
    Year: 2006
    Journal: Current Colorectal cancer Reports
    Volume: 2
    Page numbers: 173-178
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  • Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospecitve cohort study
    Year: 2006
    Journal: Clinical Genetics
    Volume: 70
    Page numbers: 198-206
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  • The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Year: 2006
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 15
    Issue: 1
    Page numbers: 76-79
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Publications in 2005

Journal Articles

  • A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the International Consortium for Prostate Cancer Genetics
    Year: 2005
    Journal: American Journal of Human Genetics
    Volume: 77
    Page numbers: 219-229
    Publisher: University of Chicago Press(Illinois)
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  • A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer
    Year: 2005
    Journal: Human Mutation
    Volume: 26
    Issue: 4
    Page numbers: 298-302
    Publisher: Wiley-Liss(New York)
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  • CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study
    Year: 2005
    Journal: Breast Cancer Research
    Volume: 7
    Issue: 4
    Page numbers: R513-R521
    Publisher: Publications Current Science(London)
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  • Classification of BRCA1 missense variants of unkown clinical significance
    Year: 2005
    Journal: Journal of Medical Genetics
    Volume: 42
    Page numbers: 138-146
    Publisher: BMJ Publishing Group(London)
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  • Description of the International Consortium for Prostate Cancer Genetics, and failure to replicate linkage of hereditary prostate cancer to 20q13
    Year: 2005
    Journal: The Prostate
    Volume: 63
    Page numbers: 276-290
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  • Double-strand break repair gene polymorphisms and risk of breast or ovarian cancer
    Year: 2005
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 14
    Issue: 2
    Page numbers: 319-323
    Publisher: American Association for Cancer Research(Alabama)
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  • Genetic variants in the Vitamin D receptor gene and prostate cancer risk
    Year: 2005
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 14
    Issue: 4
    Page numbers: 997-999
    Publisher: American Association for Cancer Research(Alabama)
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  • Identification of two evolutionary conserved and functional regulatory elements in intron 2 of the human BRCA1 gene
    Year: 2005
    Journal: Genomics
    Volume: 86
    Page numbers: 316-328
    Publisher: Academic Press(California)
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  • Large genomic rearrangements of both BRCAs and BRCA1 are a feature of the inferited breast/ovarian cancer phenotype in selected families
    Year: 2005
    Journal: Journal of Medical Genetics
    Volume: 42
    Page numbers: e37
    Publisher: BMJ Publishing Group(London)
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  • Low frequency of CHEK2 1 100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals
    Year: 2005
    Journal: British Journal of Cancer
    Volume: 92
    Page numbers: 784-790
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  • Macrophage scavenger receptor 1 999>T (R293X) mutation and risk of prostate cancer
    Year: 2005
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 14
    Issue: 2
    Page numbers: 397-402
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  • Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified with multiple-case breast cancer families
    Year: 2005
    Journal: Human Mutation
    Volume: 26
    Issue: 5
    Page numbers: 495
    Publisher: Wiley-Liss(New York)
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  • Oral contraceptive use and risk of early-onset breast cancer in carriers and noncarriers of BRCA1 and BRCA2 mutations
    Year: 2005
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 14
    Issue: 2
    Page numbers: 350-356
    Publisher: American Association for Cancer Research(Alabama)
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  • Predictors of participation in clinical and psychosocial follow-up of the kConFab breast cancer family cohort
    Year: 2005
    Journal: Familial Cancer
    Volume: 4
    Page numbers: 105-113
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  • The AIB1 glutamine repeat polymorphism is not associated with risk of breast cancer before age 40 years in Australian women
    Year: 2005
    Journal: Breast Cancer Research
    Volume: 7
    Issue: 3
    Page numbers: R353-R356
    Publisher: Publications Current Science(London)
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  • The E211 G>A androgen receptor polymorphism is associated with a decreased risk of matastatic prostate cancer and androgenetic alopecia
    Year: 2005
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 14
    Issue: 4
    Page numbers: 993-996
    Publisher: American Association for Cancer Research(Alabama)
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  • The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Year: 2005
    Journal: Breast Cancer Research
    Volume: 7
    Page numbers: R176-R183
    Publisher: Publications Current Science(London)
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  • Two ATM variants and breast cancer risk
    Year: 2005
    Journal: Human Mutation
    Volume: 25
    Page numbers: 6
    Publisher: Wiley-Liss(New York)
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  • Use of molecular tumour characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer
    Year: 2005
    Journal: Journal of Clinical Oncology
    Volume: 23
    Issue: 27
    Page numbers: 6524-6532
    Publisher: Lippincott Williams & Wilkins(Pennsylvania)
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  • ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers
    Year: 2005
    Journal: Familial Cancer
    Volume: 4
    Page numbers: 73-75
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Publications in 2004

Journal Articles

  • Cytomegalovirus, Epstein-Barr virus and risk of breast cancer before age 40 years: a case-control study
    Year: 2004
    Journal: British Journal of Cancer
    Volume: 90
    Page numbers: 2149-2152
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  • The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer
    Year: 2004
    Journal: Breast Cancer Research
    Volume: 6
    Page numbers: R375-R389
    Publisher: Publications Current Science(London)
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  • Uptake of offer to receive genetic information about BRCA1 and BRCA2 mutations in an Australian population-based study
    Year: 2004
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 13
    Issue: 12
    Page numbers: 2258-2263
    Publisher: American Association for Cancer Research(Alabama)
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Publications in 2003

Journal Articles

  • A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1
    Year: 2003
    Journal: Human Mutation
    Volume: 22
    Page numbers: 86-91
    Publisher: Wiley-Liss(New York)
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  • 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
    Year: 2003
    Journal: Human Genetics
    Volume: 112
    Page numbers: 542-551
    Publisher: Springer Verlag(New York)
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  • ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer
    Year: 2003
    Journal: Journal of the National Cancer Institute
    Volume: 95
    Issue: 11
    Page numbers: 818-824
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  • Log odds of carrying an ancestral mutation in BRCA1 or BRCA2 for a defined personal and family history in an Ashkenazi Jewish woman (LAMBDA)
    Year: 2003
    Journal: Breast Cancer Research
    Volume: 5
    Issue: 6
    Page numbers: R206-R216
    Publisher: Publications Current Science(London)
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  • Regressive logistic and proportional hazards disease models for within-family analyses of measured genotypes, with application to a CYP17 polymorphism and breast cancer
    Year: 2003
    Journal: Genetic Epidemiology
    Volume: 24
    Page numbers: 161-172
    Publisher: Wiley-Liss(New York)
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  • Results of a genome-wide linkage analysis in prostate cancer families ascertained through the ACTANE Consortium
    Year: 2003
    Journal: The Prostate
    Volume: 57
    Page numbers: 270-279
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  • Risk factors for breast cancer in young women by oestrogen receptor and progesterone receptor status
    Year: 2003
    Journal: British Journal of Cancer
    Volume: 89
    Page numbers: 1661-1663
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  • Strong familial risks associated with early-onset breast cancer are only partly BRCA1 and BRCA2 related
    Year: 2003
    Journal: Journal of the National Cancer Institute
    Volume: 95
    Issue: 6
    Page numbers: 448-457
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  • The HER2 I655V polymorphism and risk of breast cancer in women < age 40 years
    Year: 2003
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 12
    Page numbers: 1109-1111
    Publisher: American Association for Cancer Research(Alabama)
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Publications in 2002

Journal Articles

  • After hMSH2 and hMLH1 - what next? Analysis of three-generational, population-based, early-onset colorectal cancer families
    Year: 2002
    Journal: International Journal of Cancer
    Volume: 102
    Page numbers: 166-171
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  • Comparison of DNA- and RNA-Based Methods for Detection of Truncating BRCA1 Mutations
    Year: 2002
    Journal: Human Mutation
    Volume: 20
    Page numbers: 65-73
    Publisher: Wiley-Liss(New York)
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  • Stanniocalcin 2 is an estrogen-responsive gene coexpressed with the estrogen receptor in human breast cancer
    Year: 2002
    Journal: Cancer Research
    Volume: 62
    Issue: 5
    Page numbers: 1289-1295
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  • The BRCA2 372 HH Genotype Is Associated with Risk of Breast Cancer in Australian Women Under Age 60 Years
    Year: 2002
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 11
    Page numbers: 413-416
    Publisher: American Association for Cancer Research(Alabama)
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  • The Progesterone Receptor Exon 4 Val660Leu G/T Polymorphism and Risk of Breast Cancer in Australian Women
    Year: 2002
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 11
    Issue: May
    Page numbers: 439-443
    Publisher: American Association for Cancer Research(Alabama)
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Publications in 2001

Journal Articles

  • A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers
    Year: 2001
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 10
    Page numbers: 955-960
    Publisher: American Association for Cancer Research(Alabama)
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  • After BRCA1 and BRCA2-What next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer
    Year: 2001
    Journal: American Journal of Human Genetics
    Volume: 68
    Page numbers: 420-431
    Publisher: University of Chicago Press(Illinois)
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  • Molecular pathologic analysis enhances the diagnosis and management of Muir-Torre Syndrome and gives insight into its underlying molecular pathogenesis
    Year: 2001
    Journal: American Journal of Surgical Pathology
    Volume: 25
    Issue: 7
    Page numbers: 936-941
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  • Novel DNA sequence variants in the hHR21 DNA repair gene in radiosensitive cancer patients
    Year: 2001
    Journal: International Journal of Radiation: Oncology - Biology - Physics
    Volume: 50
    Issue: 5
    Page numbers: 1323-1331
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  • Overexpression of the steroid receptor coactivator AIB1 in breast cancer correlates with the absence of estrogen and progesterone receptors and positivity for p53 and HER2/neu
    Year: 2001
    Journal: Cancer Research
    Volume: 61
    Page numbers: 903-907
    Publisher: American Association for Cancer Research(Alabama)
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  • The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia
    Year: 2001
    Journal: Breast Cancer Research
    Volume: 3
    Issue: 5
    Page numbers: 346-349
    Publisher: Publications Current Science(London)
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  • The steroid 5 alpha-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australia
    Year: 2001
    Journal: Cancer Epidemiology, Biomarkers & Prevention
    Volume: 10
    Page numbers: 1287-1293
    Publisher: American Association for Cancer Research(Alabama)
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