Mark A Jenkins

Summary

Affiliation: University of Melbourne
Country: Australia

Publications

  1. 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
  2. pmc Meta-analysis of 8q24 for seven cancers reveals a locus between NOV and ENPP2 associated with cancer development
    Abra G Brisbin
    Department of Health Sciences Research, Mayo Clinic, Rochester, USA
    BMC Med Genet 12:156. 2011
  3. pmc Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study
    Mark A Jenkins
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Parkville, Victoria, Australia
    Gastroenterology 133:48-56. 2007
  4. 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
  5. doi request reprint Role of MSH6 and PMS2 in the dna mismatch repair process and carcinogenesis
    Mark A Jenkins
    Centre for MEGA Epidemiology, School of Population Health, The University of Melbourne, Victoria 3010, Australia
    Surg Oncol Clin N Am 18:625-36. 2009
  6. ncbi request reprint After hMSH2 and hMLH1--what next? Analysis of three-generational, population-based, early-onset colorectal cancer families
    Mark A Jenkins
    Centre for Genetic Epidemiology, The University of Melbourne, 723 Swanston Street, Carlton Victoria 3053, Australia
    Int J Cancer 102:166-71. 2002
  7. 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
  8. pmc Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome
    Aung Ko Win
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, Level 3, 207 Bouverie St, University of Melbourne, VIC 3010 Australia
    J Natl Cancer Inst 105:274-9. 2013
  9. pmc Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study
    Aung Ko Win
    The University of Melbourne, Australia
    J Clin Oncol 30:958-64. 2012
  10. pmc Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer
    Aung Ko Win
    Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, Victoria, Australia
    Gastroenterology 146:1208-11.e1-5. 2014

Detail Information

Publications69

  1. 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...
  2. pmc Meta-analysis of 8q24 for seven cancers reveals a locus between NOV and ENPP2 associated with cancer development
    Abra G Brisbin
    Department of Health Sciences Research, Mayo Clinic, Rochester, USA
    BMC Med Genet 12:156. 2011
    ..However, the abundance of associations around 128 Mb on chromosome 8 could mask the appearance of a weaker, but important, association elsewhere on 8q24...
  3. pmc Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study
    Mark A Jenkins
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Parkville, Victoria, Australia
    Gastroenterology 133:48-56. 2007
    ..Our aim was to identify pathology and other features that independently predict high MSI (MSI-H)...
  4. 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...
  5. doi request reprint Role of MSH6 and PMS2 in the dna mismatch repair process and carcinogenesis
    Mark A Jenkins
    Centre for MEGA Epidemiology, School of Population Health, The University of Melbourne, Victoria 3010, Australia
    Surg Oncol Clin N Am 18:625-36. 2009
    ....
  6. ncbi request reprint After hMSH2 and hMLH1--what next? Analysis of three-generational, population-based, early-onset colorectal cancer families
    Mark A Jenkins
    Centre for Genetic Epidemiology, The University of Melbourne, 723 Swanston Street, Carlton Victoria 3053, Australia
    Int J Cancer 102:166-71. 2002
    ..There is evidence for a role of yet to be identified genes associated with a high recessively-inherited risk of colorectal cancer...
  7. 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...
  8. pmc Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome
    Aung Ko Win
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, Level 3, 207 Bouverie St, University of Melbourne, VIC 3010 Australia
    J Natl Cancer Inst 105:274-9. 2013
    ..We estimated cancer risks following an endometrial cancer diagnosis for women carrying MMR gene mutations...
  9. pmc Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study
    Aung Ko Win
    The University of Melbourne, Australia
    J Clin Oncol 30:958-64. 2012
    ..To determine whether cancer risks for carriers and noncarriers from families with a mismatch repair (MMR) gene mutation are increased above the risks of the general population...
  10. pmc Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer
    Aung Ko Win
    Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, Victoria, Australia
    Gastroenterology 146:1208-11.e1-5. 2014
    ..6%-17.7%) and 10% for women (95% CI, 6.7%-14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population...
  11. 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...
  12. 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...
  13. 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...
  14. pmc Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome
    Aung Ko Win
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, Level 3, 207 Bouverie Street, The University of Melbourne, VIC 3010, Australia
    J Natl Cancer Inst 104:1363-72. 2012
    ..We estimated the risks of primary cancers other than colorectal cancer following a diagnosis of colorectal cancer in mutation carriers...
  15. doi request reprint Early-life sun exposure and risk of melanoma before age 40 years
    Anne E Cust
    Centre for Molecular, Environmental, Genetic and Analytic MEGA Epidemiology, Melbourne School of Population Health, University of Melbourne, Vic, Australia
    Cancer Causes Control 22:885-97. 2011
    ..To examine associations between early-life sun exposure and risk of invasive cutaneous melanoma diagnosed between ages 18 and 39 years...
  16. 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...
  17. 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
    ....
  18. 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...
  19. 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...
  20. pmc Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers
    Aung Ko Win
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
    Ann Surg Oncol 20:1829-36. 2013
    ..We aimed to estimate the risk of metachronous colon cancer for MMR gene mutation carriers who underwent a proctectomy for index rectal cancer...
  21. pmc Does risk of endometrial cancer for women without a germline mutation in a DNA mismatch repair gene depend on family history of endometrial cancer or colorectal cancer?
    Rajani Bharati
    Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, Victoria, Australia
    Gynecol Oncol 133:287-92. 2014
    ..To determine whether risk of endometrial cancer for women without a germline mutation in a DNA mismatch repair (MMR) gene depends on family history of endometrial or colorectal cancer...
  22. pmc Screening practices of Australian men and women categorized as "at or slightly above average risk" of colorectal cancer
    Driss Ait Ouakrim
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, The University of Melbourne, Level 3, 207 Bouverie Street, Melbourne, VIC 3010, Australia
    Cancer Causes Control 23:1853-64. 2012
    ..We conducted a population-based study to estimate CRC screening practices existing outside the current program...
  23. 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...
  24. 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...
  25. 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...
  26. 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
    ....
  27. doi request reprint Childhood immunization and atopic disease into middle-age--a prospective cohort study
    Melanie C Matheson
    Centre for MEGA Epidemiology, The University of Melbourne, Melbourne, Vic, Australia
    Pediatr Allergy Immunol 21:301-6. 2010
    ..Our findings should provide reassurance that in terms of life time risk of asthma and atopic disease, childhood immunization is safe...
  28. 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
    ....
  29. pmc Sunbed use during adolescence and early adulthood is associated with increased risk of early-onset melanoma
    Anne E Cust
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, University of Melbourne, Melbourne, Australia
    Int J Cancer 128:2425-35. 2011
    ..Sunbed use is associated with increased risk of early-onset melanoma, with risk increasing with greater use, an earlier age at first use and for earlier onset disease...
  30. doi request reprint Factors influencing asthma remission: a longitudinal study from childhood to middle age
    John A Burgess
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Level 2, 723 Swanston Street, Carlton, Victoria 3053, Australia
    Thorax 66:508-13. 2011
    ..To examine asthma remission from childhood to middle age...
  31. doi request reprint Screening participation predictors for people at familial risk of colorectal cancer: a systematic review
    Driss Ait Ouakrim
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Victoria
    Am J Prev Med 44:496-506. 2013
    ..People with a family history of colorectal cancer (CRC) are at increased risk of developing the disease. Information on the screening practices of this segment of the population is scarce...
  32. pmc Cancer risks for relatives of patients with serrated polyposis
    Aung Ko Win
    Centre for MEGA Epidemiology, School of Population Health, University of Melbourne, Carlton, Victoria, Australia
    Am J Gastroenterol 107:770-8. 2012
    ..The aim of this study was to estimate the risks of CRC and extracolonic cancers for relatives of patients with serrated polyposis...
  33. 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...
  34. ncbi request reprint Childhood allergic rhinitis predicts asthma incidence and persistence to middle age: a longitudinal study
    John A Burgess
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Victoria, Australia
    J Allergy Clin Immunol 120:863-9. 2007
    ..The association between allergic rhinitis and asthma is well documented, but the temporal sequence of this association has not been closely examined...
  35. ncbi request reprint Prognosis of premenopausal breast cancer and childbirth prior to diagnosis
    Kelly Anne Phillips
    Peter MacCallum Cancer Centre, University of Melbourne, Carlton, Victoria 3053, Australia
    J Clin Oncol 22:699-705. 2004
    ..The time interval between last childbirth and subsequent breast cancer diagnosis is emerging as an important prognostic factor for premenopausal women...
  36. ncbi request reprint Screening participation for people at increased risk of colorectal cancer due to family history: a systematic review and meta-analysis
    Driss Ait Ouakrim
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population and Global Health, The University of Melbourne, Level 3, 207 Bouverie Street, Carlton, Vic, 3010, Australia
    Fam Cancer 12:459-72. 2013
    ..It highlights the potential opportunity that exists for increasing screening participation among this segment of the population and the need to adjust the current CRC screening policies towards that objective...
  37. ncbi request reprint Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancer
    Mark A Jenkins
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Carlton, Victoria 3053, Australia
    Curr Oncol Rep 9:202-7. 2007
    ..Incomplete penetrance and differences in risk by subcategories are consistent with the existence of genetic and/or environmental risk -modifiers. Data from large cohorts of carriers are required to study such modifiers with precision...
  38. doi request reprint Asthma, asthma medications, and prostate cancer risk
    Gianluca Severi
    Cancer Epidemiology Centre, The Cancer Council of Victoria, Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Carlton, VIC 3053, Australia
    Cancer Epidemiol Biomarkers Prev 19:2318-24. 2010
    ..The aim of this study was to assess whether a history of asthma or the use of asthma medications is associated with prostate cancer risk...
  39. ncbi 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. ..
  40. 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...
  41. doi request reprint Ethnicity and risk for colorectal cancers showing somatic BRAF V600E mutation or CpG island methylator phenotype
    Dallas R English
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, The University of Melbourne, Level 1, Parkville, Victoria, Australia
    Cancer Epidemiol Biomarkers Prev 17:1774-80. 2008
    ....
  42. pmc Screening practices of unaffected people at familial risk of colorectal cancer
    Driss Ait Ouakrim
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, The University of Melbourne and The Royal Melbourne Hospital, Parkville, Vic, Australia
    Cancer Prev Res (Phila) 5:240-7. 2012
    ..Guidelines for CRC screening are not being implemented in the population. More research is needed to identify the reasons so as to enable development of strategies to improve participation in screening...
  43. ncbi request reprint Who remembers whether they had asthma as children?
    John A Burgess
    Centre for Molecular, Environmental, Genetic and Analytical Epidemiology, The University of Melbourne, 723 Swanston Street, Carlton, Victoria 3053, Australia
    J Asthma 43:727-30. 2006
    ..To assess misclassification in adults reporting childhood asthma...
  44. pmc Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis
    Aung Ko Win
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, The University of Melbourne, Melbourne, VIC 3010, Australia
    Fam Cancer 10:1-9. 2011
    ..3%; SE 0.9%) than for controls (1.4%; SE 0.3%) (P = 0.02). Monoallelic MUTYH mutation carriers are at increased risk of CRC but the average increase is small...
  45. doi request reprint Risk prediction models for colorectal cancer: a review
    Aung Ko Win
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia
    Cancer Epidemiol Biomarkers Prev 21:398-410. 2012
    ..We conclude that there is no model that sufficiently covers the known risk factors for colorectal cancer that is suitable for assessment of people from across the full range of risk and that a new comprehensive model is needed...
  46. pmc Population-based, case-control-family design to investigate genetic and environmental influences on melanoma risk: Australian Melanoma Family Study
    Anne E Cust
    Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, School of Population Health, The University of Melbourne, Level 1, Melbourne, Victoria, Australia
    Am J Epidemiol 170:1541-54. 2009
    ..The authors discuss methodological and analytical issues related to the study design and conduct, as well as the potentially novel insights the study can deliver...
  47. ncbi request reprint Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study
    Mark A Jenkins
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Victoria, Australia
    Cancer Epidemiol Biomarkers Prev 15:312-4. 2006
    ....
  48. pmc Is childhood immunisation associated with atopic disease from age 7 to 32 years?
    Kazunori Nakajima
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, The University of Melbourne, Level 2, 723 Swanston Street, Carlton, VIC 3053 Australia
    Thorax 62:270-5. 2007
    ..There is ongoing conjecture over whether childhood immunisation leads to an increased risk of developing atopic diseases...
  49. ncbi request reprint Low somatic K-ras mutation frequency in colorectal cancer diagnosed under the age of 45 years
    Kathryn Alsop
    Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Vic, Australia
    Eur J Cancer 42:1357-61. 2006
    ..The role of somatic K-ras mutations in early-onset colorectal cancer carcinogenesis appears to be minor, in contrast to its significant role in colorectal cancer of later age of onset...
  50. pmc Cost-effectiveness of family history-based colorectal cancer screening in Australia
    Driss A Ouakrim
    Centre for Epidemiology and Biostatistics, The University of Melbourne, Melbourne, VIC 3010, Australia
    BMC Cancer 14:261. 2014
    ..A targeted screening strategy addressed to this segment of the population is a potentially valuable tool for reducing the overall burden of CRC...
  51. pmc BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome
    Christopher W Toon
    Department of Anatomical Pathology Northern Cancer Translational Research Unit Familial Cancer Clinic, Royal North Shore Hospital Department of Pathology, SydPath, St Vincents Hospital, Darlinghurst Faculty of Medicine, University of NSW Sydney Medical School, University of Sydney, Sydney, NSW Department of Molecular and Cellular Pathology Department of Pathology, School of Medicine, University of Queensland Envoi Specialist Pathologists, Herston Cancer and Population Studies Group, Queensland Institute of Medical Research, Brisbane, QLD Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, University of Melbourne, Carlton, Vic, Australia Department of Neuropathology, Institute of Pathology, Ruprecht Karls University Clinical Cooperation Unit Neuropathology, German Cancer Research Center DKFZ, Heidelberg, Germany
    Am J Surg Pathol 37:1592-602. 2013
    ..Reflex BRAFV600E and MMR IHC are simple cheap tests that facilitate universal LS screening and identify the poor prognosis of the BRAFV600E-mutant MSS CRC phenotype. ..
  52. 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...
  53. pmc Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome
    Musa Drini
    Colorectal Medicine and Genetics, Royal Melbourne Hospital, Department of Medicine, University of Melbourne, Parkville, Victoria, Australia
    PLoS ONE 6:e16831. 2011
    ..In this study, we investigated the potential for interaction of genetic and epigenetic variation in DNMT genes, in the aetiology of HPS...
  54. doi request reprint Sociodemographic, lifestyle, and medical risk factors for visual impairment in an urban asian population: the singapore malay eye study
    Elaine W Chong
    FRCSE, Centre for Eye Research Australia, University of Melbourne, 32 Gisborne St, East Melbourne 3002, Australia
    Arch Ophthalmol 127:1640-7. 2009
    ..To describe the associations between sociodemographic, lifestyle, and medical risk factors and visual impairment in a Southeast Asian population...
  55. doi request reprint Risk of prostate cancer in Lynch syndrome: a systematic review and meta-analysis
    Shae Ryan
    Authors Affiliation Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia
    Cancer Epidemiol Biomarkers Prev 23:437-49. 2014
    ..28 (95% CI, 1.37-3.19) for all men from mutation-carrying families. The combination of evidence from molecular and risk studies in the current literature supports consideration of prostate cancer as part of Lynch syndrome...
  56. pmc The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
    Leigha Senter
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, USA
    Gastroenterology 135:419-28. 2008
    ..Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers...
  57. ncbi request reprint Variants on 9p24 and 8q24 are associated with risk of colorectal cancer: results from the Colon Cancer Family Registry
    Jenny N Poynter
    Department of Preventive Medicine, University of Southern California, 1441 Eastlake Avenue, NOR4411A, Los Angeles, CA 90089 9175, USA
    Cancer Res 67:11128-32. 2007
    ..These data suggest that common variants may play important roles in the risk of CRC...
  58. ncbi request reprint Dominant negative ATM mutations in breast cancer families
    Georgia Chenevix-Trench
    Queensland Institute of Medical Research, Brisbane, Australia
    J Natl Cancer Inst 94:205-15. 2002
    ..We examined these two ATM mutations in a population-based, case-control series of breast cancer families and multiple-case breast cancer families...
  59. ncbi request reprint Contributions of ATM mutations to familial breast and ovarian cancer
    Yvonne R Thorstenson
    Stanford Genome Technology Center, Palo Alto, California 94304 1103, USA
    Cancer Res 63:3325-33. 2003
    ..This study indicates that there is a significant prevalence of ATM mutations in breast and ovarian cancer families and adds to a growing body of evidence that ATM mutations confer increased susceptibility to breast cancer...
  60. ncbi request reprint Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer
    Melissa C Southey
    Genetic Epidemiology Laboratory, Department of Pathology, Australia
    J Clin Oncol 23:6524-32. 2005
    ..The relationships between mismatch repair (MMR) protein expression, microsatellite instability (MSI), family history, and germline MMR gene mutation status have not been studied on a population basis...
  61. ncbi request reprint Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation
    Sharlene Gill
    British Columbia Cancer Agency, Vancouver, British Columbia, Canada
    Clin Cancer Res 11:6466-71. 2005
    ..Rarely, there is selective loss of PMS2 expression. We sought to describe the frequency and clinical correlates of selective loss of expression of PMS2 with the MSI-H tumor phenotype...
  62. ncbi request reprint Measures of familial aggregation depend on definition of family history: meta-analysis for colorectal cancer
    Laura Baglietto
    Cancer Epidemiology Centre, The Cancer Council of Victoria, 100 Rathdowne Street, Carlton, Melbourne, Victoria 3053, Australia
    J Clin Epidemiol 59:114-24. 2006
    ....
  63. ncbi request reprint Is BRCA2 c.9079 G>A a predisposing variant for early onset breast cancer?
    Fleur Hammet
    Breast Cancer Res Treat 109:177-9. 2008
  64. ncbi request reprint A range of simple summary genome-wide statistics for detecting genetic linkage using high density marker data
    Ian W Saunders
    CSIRO Preventative Health National Research Flagship, CSIRO Mathematical and Information Sciences, Glen Osmond 5064, Australia
    Genet Epidemiol 31:565-76. 2007
    ..While the sample size was not sufficient to detect the linkage, there was a clear signal at the MLH1 location indicating that relatively small sample sizes would have been adequate to detect linkage to this gene...
  65. ncbi request reprint BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50
    Robert W Haile
    Department of Preventive Medicine, University of Southern California Keck School of Medicine, 1441 Eastlake Avenue, MS 9175, Los Angeles, CA 90089 9175, USA
    Cancer Epidemiol Biomarkers Prev 15:1863-70. 2006
    ..Understanding the effect of oral contraceptives on risk of breast cancer in BRCA1 or BRCA2 mutation carriers is important because oral contraceptive use is a common, modifiable practice...
  66. ncbi request reprint Infrapectineal plating for acetabular fractures: a technical adjunct to internal fixation
    Abid A Qureshi
    Muir Orthopaedic Specialists, Walnut Creek, CA, USA
    J Orthop Trauma 18:175-8. 2004
    ..By resisting medial secondary redisplacement, this technique adds to stable fixation for acetabular fractures involving medial displacement, particularly of the quadrilateral plate...
  67. ncbi request reprint Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer
    Joanne Young
    Conjoint Gastroenterology Laboratory, Queensland Institute of Medical Research, Herston, Australia
    Clin Gastroenterol Hepatol 3:254-63. 2005
    ..Here, we discuss their role in the development of other familial colorectal cancers (CRC). We studied non-FAP, non-HNPCC CRC families characterized by tumors that varied in their level of MSI between individual members...
  68. ncbi request reprint No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 years
    Valerie McGuire
    Department of Health Research and Policy, Stanford University School of Medicine, Health Research and Stanford, CA 94305 5405, USA
    Cancer Epidemiol Biomarkers Prev 15:1565-7. 2006
  69. ncbi request reprint Stability of BAT26 in Lynch syndrome colorectal tumours
    Lesley Jaskowski
    Eur J Hum Genet 15:139-41; author reply 141-2. 2007