James G Dowty

Summary

Affiliation: University of Melbourne
Country: Australia

Publications

  1. pmc Cancer risks for MLH1 and MSH2 mutation carriers
    James G Dowty
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
    Hum Mutat 34:490-7. 2013
  2. 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
  3. pmc Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?
    Aung Ko Win
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
    Eur J Cancer 49:1578-87. 2013
  4. pmc Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer
    Aung Ko Win
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Vic, Australia
    Int J Cancer 129:2256-62. 2011
  5. pmc Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers
    Aung Ko Win
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
    Obstet Gynecol 117:899-905. 2011
  6. 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
  7. pmc Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genes
    Christine M Van Vliet
    Centre for Molecular, Environmental, Genetic, Analytic Epidemiology, The University of Melbourne, Victoria 3010, Australia
    Hum Mutat 32:207-12. 2011
  8. doi request reprint Using SNP genotypes to improve the discrimination of a simple breast cancer risk prediction model
    Gillian S Dite
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Level 3 207 Bouverie Street, Carlton, VIC 3053, Australia
    Breast Cancer Res Treat 139:887-96. 2013
  9. 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
  10. 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

Collaborators

Detail Information

Publications15

  1. pmc Cancer risks for MLH1 and MSH2 mutation carriers
    James G Dowty
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
    Hum Mutat 34:490-7. 2013
    ..Our estimates of CRC and EC cumulative risks for MLH1 and MSH2 mutation carriers are the most precise currently available...
  2. 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...
  3. pmc Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?
    Aung Ko Win
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
    Eur J Cancer 49:1578-87. 2013
    ..The aim of this study was to investigate whether 11 of these variants are associated with CRC risk for carriers of germline mutations in DNA mismatch repair (MMR) genes...
  4. pmc Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer
    Aung Ko Win
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Vic, Australia
    Int J Cancer 129:2256-62. 2011
    ..Monoallelic MUTYH mutation carriers with a family history of CRC, such as those identified from screening multiple-case CRC families, are at increased risk of colorectal, gastric, endometrial and possibly liver cancers...
  5. pmc Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers
    Aung Ko Win
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
    Obstet Gynecol 117:899-905. 2011
    ..To investigate the association of body mass index (BMI) in early adulthood and endometrial cancer risk for carriers of a germline mutation in a DNA mismatch repair gene...
  6. 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...
  7. pmc Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genes
    Christine M Van Vliet
    Centre for Molecular, Environmental, Genetic, Analytic Epidemiology, The University of Melbourne, Victoria 3010, Australia
    Hum Mutat 32:207-12. 2011
    ..If confirmed by larger studies, these results will have important implications for the etiology of CRC and for the clinical management of MMR gene mutation carriers...
  8. doi request reprint Using SNP genotypes to improve the discrimination of a simple breast cancer risk prediction model
    Gillian S Dite
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Level 3 207 Bouverie Street, Carlton, VIC 3053, Australia
    Breast Cancer Res Treat 139:887-96. 2013
    ..Given, the low absolute risk for women in these age groups, only a small proportion are reclassified into a higher category for predicted 5-year risk of breast cancer. ..
  9. 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...
  10. 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
    ....
  11. ncbi request reprint Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study
    Mark A Jenkins
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Victoria, Australia
    Clin Gastroenterol Hepatol 4:489-98. 2006
    ..These may be overestimates, due to analytic problems, and not generalizable. We estimated average cancer risks for mutations identified in population-based early onset colorectal cancer cases (probands) unselected for family history...
  12. ncbi request reprint The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women
    James G Dowty
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Victoria, Australia
    Breast Cancer Res Treat 112:35-9. 2008
    ..Larger studies would be required to determine if this variant is associated with a smaller risk of breast cancer...
  13. doi request reprint Criteria and prediction models for mismatch repair gene mutations: a review
    Aung Ko Win
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
    J Med Genet 50:785-93. 2013
    ..Future models may need to: provide prediction of PMS2 mutations, take into account a wider range of Lynch syndrome-associated cancers when assessing family history, and be applicable to all people irrespective of any cancer diagnosis. ..
  14. doi request reprint Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK
    Anne E Cust
    Center for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Melbourne, Australia
    J Med Genet 48:266-72. 2011
    ..CDKN2A mutations confer a substantial risk of cutaneous melanoma; however, the magnitude of risk is uncertain...
  15. 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