Genomes and Genes
M C Southey
Affiliation: University of Melbourne
- Estrogen receptor polymorphism at codon 325 and risk of breast cancer in women before age fortyM C Southey
Department of Pathology and Research, Peter MacCallum Cancer Institute, Melbourne, Australia
J Natl Cancer Inst 90:532-6. 1998..28+/-0.05 versus 0.11+/-0.02; P<.001). To determine whether this polymorphism is a risk factor for early-onset breast cancer, we conducted a population-based, case-control-family study in Australia...
- Molecular pathologic analysis enhances the diagnosis and management of Muir-Torre syndrome and gives insight into its underlying molecular pathogenesisM C Southey
Department of Pathology, Victorian Breast Cancer Research Consortium, Peter MacCallum Cancer Institute, and the Department of Pathology, University of Melbourne, Parkville, Victoria, Australia
Am J Surg Pathol 25:936-41. 2001..The profile of microsatellite instability and the genes rendered dysfunctional differed between tumor samples, suggesting that the molecular pathogenesis varied between lesions, despite a common germline mutation...
- CFTR deltaF508 carrier status, risk of breast cancer before the age of 40 and histological grading in a population-based case-control studyM C Southey
Department of Pathology, Peter MacCallum Cancer Institute, Melbourne, Australia
Int J Cancer 79:487-9. 1998..A combination of our data with other large population-based samples of cases and controls is required to resolve this issue...
- 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...
- Prospective validation of the breast cancer risk prediction model BOADICEA and a batch-mode version BOADICEACentreR 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...
- 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...
- 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...
- 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...
- Tumour morphology predicts PALB2 germline mutation statusZ 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...
- 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...
- 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...
- 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...
- A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1M C Southey
Department of Pathology, Peter MacCallum Cancer Institute, Melbourne, Australia
Hum Mutat 22:86-91. 2003....
- Plasma concentration of Propionibacterium acnes antibodies and prostate cancer risk: results from an Australian population-based case-control studyG Severi
Cancer Epidemiology Centre, The Cancer Council of Victoria, Melbourne, Victoria 3053, Australia
Br J Cancer 103:411-5. 2010..The aim of our study was to test whether circulating levels of P. acnes antibodies are associated with prostate cancer risk and tumour characteristics using plasma samples from a population-based case-control study...
- Sibship analysis of associations between SNP haplotypes and a continuous trait with application to mammographic densityJ Stone
Centre for Molecular, Environmental, Genetic, and Analytic MEGA Epidemiology, University of Melbourne, Melbourne, Australia
Genet Epidemiol 34:309-18. 2010..We found evidence of association between MD and a 4-SNP VDR haplotype. In conclusion, our proposed method retains the benefits of the between- and within-pair analysis for pairs of siblings and can be implemented in standard software...
- 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...
- Chromosomal localization of the human P2y6 purinoceptor gene and phylogenetic analysis of the P2y purinoceptor familyG R Somers
Department of Pathology, Peter MacCallum Cancer Institute, East Melbourne, Victoria, Australia
Genomics 44:127-30. 1997..Phylogenetic analysis of the P2Y purinoceptor family demonstrated the presence of five evolutionary branches and suggests the occurrence of an ancient gene duplication event...
- 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/neuT Bouras
Department to Pathology, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia
Cancer Res 61:903-7. 2001....
- Spatiotemporally exact cDNA libraries from quail embryos: a resource for studying neural crest development and neurocristopathiesS G Bevan
Embryology Laboratory, Murdoch Institute, Parkville, Victoria, Australia
Genomics 38:206-14. 1996....
- Adult serum cytokine concentrations and the persistence of asthmaR K Kandane-Rathnayake
Centre for MEGA Epidemiology, Melbourne School of Population Health, The University of Melbourne, Melbourne, Vic, Australia
Int Arch Allergy Immunol 161:342-50. 2013..Cytokines play a pivotal role in regulating the development and persistence of the inflammatory process in asthma. Our aim was to investigate whether asthma persistence or remission is associated with a specific cytokine profile...
- 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...
- 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...
- 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)...
- An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndromeE E M Jaeger
Molecular and Population Genetics Laboratory, Cancer Research UK, London, United Kingdom
Am J Hum Genet 72:1261-7. 2003..Although there are probably multiple causes of the multiple colorectal adenoma and cancer phenotype in Ashkenazim, an important one is the HMPS/CRAC1 locus on 15q13-q14...
- 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...
- 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...
- 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...
- 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...
- Large genomic alterations in hMSH2 and hMLH1 in early-onset colorectal cancer: identification of a large complex de novo hMLH1 alterationL Smith
Clin Genet 70:250-2. 2006
- 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....