Amanda B Spurdle

Summary

Affiliation: Queensland Institute of Medical Research
Country: Australia

Publications

  1. doi request reprint Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1
    Felicity Lose
    Cancer and Cell Biology Division, Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia
    J Natl Cancer Inst 100:1519-29. 2008
  2. pmc BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression
    Nic Waddell
    Queensland Institute of Medical Research, Brisbane, Australia
    PLoS Genet 4:e1000080. 2008
  3. pmc BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
    Amanda B Spurdle
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    J Med Genet 49:525-32. 2012
  4. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
  5. pmc Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study
    Roger L Milne
    Genetic and Molecular Epidemiology Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Madrid, 28029, Spain
    Breast Cancer Res 12:R110. 2010
  6. pmc Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts
    Phillip J Whiley
    School of Chemistry and Molecular Biosciences, The University of Queensland, Australia
    BMC Med Genet 11:80. 2010
  7. doi request reprint Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators
    Amanda B Spurdle
    Queensland Institute of Medical Research, c o Royal Brisbane Hospital Post Office, Herston, Queensland 4029, Australia
    J Clin Oncol 26:1657-63. 2008
  8. pmc Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance
    Amanda B Spurdle
    Queensland Institute of Medical Research, Brisbane, Australia
    Hum Mutat 31:E1141-5. 2010
  9. doi request reprint No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Amanda B Spurdle
    Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res Treat 115:307-13. 2009
  10. pmc Genome-wide association study identifies a common variant associated with risk of endometrial cancer
    Amanda B Spurdle
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Nat Genet 43:451-4. 2011

Detail Information

Publications81

  1. doi request reprint Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1
    Felicity Lose
    Cancer and Cell Biology Division, Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia
    J Natl Cancer Inst 100:1519-29. 2008
    ....
  2. pmc BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression
    Nic Waddell
    Queensland Institute of Medical Research, Brisbane, Australia
    PLoS Genet 4:e1000080. 2008
    ..This study indicates that mutation effect, and presence of rare variants possibly associated with a low risk of cancer, must be considered in the development of array-based assays of variant pathogenicity...
  3. pmc BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
    Amanda B Spurdle
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    J Med Genet 49:525-32. 2012
    ..5096G>A p.Arg1699Gln in the BRCA1 transcriptional transactivation domain demonstrated equivocal results from a series of functional assays, and proposed that this variant may confer low to moderate risk of cancer...
  4. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
    ..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...
  5. pmc Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study
    Roger L Milne
    Genetic and Molecular Epidemiology Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Madrid, 28029, Spain
    Breast Cancer Res 12:R110. 2010
    ....
  6. pmc Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts
    Phillip J Whiley
    School of Chemistry and Molecular Biosciences, The University of Queensland, Australia
    BMC Med Genet 11:80. 2010
    ....
  7. doi request reprint Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators
    Amanda B Spurdle
    Queensland Institute of Medical Research, c o Royal Brisbane Hospital Post Office, Herston, Queensland 4029, Australia
    J Clin Oncol 26:1657-63. 2008
    ..We assessed the value of tumor immunohistochemical markers in conjunction with genetic and evolutionary approaches for investigating the clinical significance of unclassified variants...
  8. pmc Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance
    Amanda B Spurdle
    Queensland Institute of Medical Research, Brisbane, Australia
    Hum Mutat 31:E1141-5. 2010
    ..Multifactorial likelihood analysis indicates that the BRCA1 c.135-1G>T and BRCA2 c.7977-1G>C variants are disease-associated mutations which should be managed clinically in the same fashion as classical truncating mutations...
  9. doi request reprint No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Amanda B Spurdle
    Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res Treat 115:307-13. 2009
    ..99-2.18; P = 0.06 for BRCA2). The 95% confidence intervals for per allele risk estimates excluded a twofold risk, indicating that common CDKN1B polymorphisms do not markedly modify breast cancer risk among BRCA1 or BRCA2 carriers...
  10. pmc Genome-wide association study identifies a common variant associated with risk of endometrial cancer
    Amanda B Spurdle
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Nat Genet 43:451-4. 2011
    ..We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1 × 10(-10)) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes...
  11. pmc Prediction and assessment of splicing alterations: implications for clinical testing
    Amanda B Spurdle
    Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia
    Hum Mutat 29:1304-13. 2008
    ..To facilitate variant classification and development of more specific bioinformatic tools, we call for the deposition of all laboratory data from splicing analyses into national and international databases...
  12. ncbi request reprint The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Amanda B Spurdle
    The Queensland Institute of Medical Research, Brisbane, Australia
    Cancer Epidemiol Biomarkers Prev 15:76-9. 2006
    ..Given the large sample size, with more than adequate power to detect previously reported effects, we conclude that the AIB1 glutamine repeat does not substantially modify risk of breast cancer in BRCA1 and BRCA2 mutation carriers...
  13. pmc Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Amanda B Spurdle
    Division of Genetics and Population Health, Queensland Institute of Medical Research, 300 Herston Rd, Herston 4006, Australia
    Breast Cancer Res Treat 122:281-5. 2010
    ..These results support the need for replication studies to confirm or refute hypothesis-generating studies...
  14. ncbi request reprint 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
    Amanda B Spurdle
    Cancer and Cell Biology Division, The Queensland Institute of Medical Research and The University of Queensland, Brisbane, Queensland, Australia
    Cancer Epidemiol Biomarkers Prev 16:769-74. 2007
    ....
  15. doi request reprint Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary
    Phillip J Whiley
    Queensland Institute of Medical Research, Brisbane, Australia
    Hum Mutat 32:678-87. 2011
    ....
  16. pmc Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
    Paul K Lovelock
    Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Herston Road, Queensland 4029, Australia
    Breast Cancer Res 9:R82. 2007
    ....
  17. doi request reprint The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analysis
    Sharon E Johnatty
    Cancer and Cell Biology, Queensland Institute of Medical Research, Brisbane, QLD, Australia
    Breast Cancer Res Treat 115:145-50. 2009
    ..Segregation analysis of 14 kConFab variant-carrying families containing 157 genotyped individuals provided no evidence of segregation with disease. We conclude that the BARD1 Cys557Ser variant is not associated with breast cancer risk...
  18. pmc No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer
    Amanda B Spurdle
    Cancer and Cell Biology Division, The Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Queensland, Australia
    Breast Cancer Res 4:R15. 2002
    ..We investigate the breast cancer risk associated with these two nonconservative amino acid substitution variants using a large Australian population-based case-control study...
  19. pmc BCoR-L1 variation and breast cancer
    Felicity Lose
    Cancer and Cell Biology Division, Queensland Institute of Medical Research, 300 Herston Road, Brisbane, Queensland, Australia, 4006
    Breast Cancer Res 9:R54. 2007
    ..BCoR-L1 is located on the X chromosome and is subject to X inactivation...
  20. pmc Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers
    Amanda B Spurdle
    QueenslanInstitute for Medical Research, Brisbane, Australia
    Cancer Epidemiol Biomarkers Prev 20:1032-8. 2011
    ..Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies...
  21. ncbi request reprint Kallikrein-related peptidase 10 (KLK10) expression and single nucleotide polymorphisms in ovarian cancer survival
    Jyotsna Batra
    School of Life Sciences, Hormone Dependent Cancer Research Program, Institute of Health and Biomedical Innovation, Queensland University of Technology, Queensland, Australia
    Int J Gynecol Cancer 20:529-36. 2010
    ..We aimed to identify whether KLK10 overexpression could be attributed to genetic variants, in particular, in hormone response elements or transcription factor binding sites...
  22. ncbi request reprint Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies
    Sharon E Johnatty
    Cancer and Cell Biology, Queensland Institute of Medical Research, c o Royal Brisbane Hospital Post Office, Herston, Brisbane, QLD, 4029, Australia
    Breast Cancer Res Treat 109:91-9. 2008
    ....
  23. pmc The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Amanda B Spurdle
    Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res 7:R176-83. 2005
    ..Women with germline BRCA1 mutations who carry at least one AR allele with 28 or more repeats have been reported to have an earlier age at onset of breast cancer...
  24. ncbi request reprint Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers
    Logan C Walker
    Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane, QLD, Australia
    Breast Cancer Res Treat 112:229-36. 2008
    ..Similar approaches may be used to identify genes and underlying genetic risk factors that interact with exogenous stimulants to cause or modify any disease, without a priori knowledge of the pathways involved...
  25. pmc A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry
    Bryony A Thompson
    Department of Genetics and Population Health, Queensland Institute of Medical Research, Herston, Brisbane, Australia School of Medicine, University of Queensland, Brisbane, Australia
    Hum Mutat 34:200-9. 2013
    ..Our findings provide a working multifactorial likelihood model for classification that carefully considers mode of ascertainment for gene testing...
  26. pmc Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity
    Logan C Walker
    Queensland Institute of Medical Research, Brisbane, Australia
    Hum Mutat 31:E1484-505. 2010
    ..Arg3052Trp), supporting experimentally derived evidence. These findings highlight the need for improved bioinformatic prediction of splicing aberrations and to refine multifactorial likelihood models used to assess clinical significance...
  27. pmc 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
    Jonathan Beesley
    Queensland Institute of Medical Research, Herston, Queensland, Australia
    Cancer Epidemiol Biomarkers Prev 16:2557-65. 2007
    ..Further analyses of SNPs in this gene are therefore warranted to determine whether SRD5A2 plays a role in ovarian cancer predisposition...
  28. doi request reprint Common variation in Kallikrein genes KLK5, KLK6, KLK12, and KLK13 and risk of prostate cancer and tumor aggressiveness
    Felicity Lose
    Molecular Cancer Epidemiology Group, Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Urol Oncol 31:635-43. 2013
    ....
  29. pmc No evidence that GATA3 rs570613 SNP modifies breast cancer risk
    Sharon E Johnatty
    Cancer and Cell Biology, Queensland Institute of Medical Research, c o Royal Brisbane Hospital Post Office, Herston, Brisbane, QLD 4029, Australia
    Breast Cancer Res Treat 117:371-9. 2009
    ..93, 95% CI 0.80-1.07). We conclude that there is no evidence that either GATA3 rs570613, or any variant in strong linkage disequilibrium with it, is associated with breast cancer risk in women...
  30. ncbi request reprint Double-strand break repair gene polymorphisms and risk of breast or ovarian cancer
    Penelope M Webb
    Population and Clinical Sciences Division, Queensland Institute of Medical Research and University of Queensland, Brisbane, Queensland, Australia
    Cancer Epidemiol Biomarkers Prev 14:319-23. 2005
    ....
  31. ncbi request reprint Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability
    Paul K Lovelock
    School of Molecular and Microbial Sciences, University of Queensland, Brisbane, Australia
    Breast Cancer Res Treat 104:257-66. 2007
    ..We assessed the ability of several assays of LCLs to distinguish carriers of germline BRCA1 and BRCA2 gene mutations from mutation-negative controls to determine their utility for use in a diagnostic setting...
  32. pmc Genetic association of the KLK4 locus with risk of prostate cancer
    Felicity Lose
    Molecular Cancer Epidemiology Group, Genetics and Population Health Division, Queensland Institute of Medical Research, 300 Herston Rd, Herston, Brisbane, Queensland, Australia
    PLoS ONE 7:e44520. 2012
    ..98). Our findings provide suggestive evidence of a role for genetic variation in the KLK4 locus in prostate cancer predisposition...
  33. pmc Association between Prostinogen (KLK15) genetic variants and prostate cancer risk and aggressiveness in Australia and a meta-analysis of GWAS data
    Jyotsna Batra
    Australian Prostate Cancer Research centre Queensland and Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Queensland, Australia
    PLoS ONE 6:e26527. 2011
    ..Kallikrein 15 (KLK15)/Prostinogen is a plausible candidate for prostate cancer susceptibility. Elevated KLK15 expression has been reported in prostate cancer and it has been described as an unfavorable prognostic marker for the disease...
  34. ncbi request reprint Mutation analysis of five candidate genes in familial breast cancer
    Anna Marsh
    Cancer and Cell Biology, Queensland Institute of Medical Research, c o RBH Post Office, Herston, Brisbane, QLD, 4029, Australia
    Breast Cancer Res Treat 105:377-89. 2007
    ..Although we identified many novel variants, we found no evidence that highly penetrant germline mutations in these five genes contribute to familial breast cancer susceptibility...
  35. ncbi request reprint Ovarian cancer survival and polymorphisms in hormone and DNA repair pathway genes
    Christina M Nagle
    Cancer and Population Studies, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Queensland 4029, Australia
    Cancer Lett 251:96-104. 2007
    ..However, given the marginal significance of these associations and the large number of tests performed, independent replication will be necessary to validate these novel findings...
  36. pmc Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics
    Sven Arnold
    Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia
    Hum Mutat 30:757-70. 2009
    ..Classification of mismatch repair gene variants is assisted by a comprehensive approach that includes in vitro, tumor pathology, clinical, and evolutionary conservation data...
  37. ncbi request reprint The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer
    Amanda B Spurdle
    Cancer and Cell Biology Division, Joint Experimental Oncology Programme, The Queensland Institute of Medical Research and The University of Queensland, Brisbane, Australia
    Pharmacogenetics 12:355-66. 2002
    ....
  38. 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...
  39. doi request reprint Report of Endometrial Cancer in Australian BRCA1 and BRCA2 mutation-positive Families
    David L Duffy
    Genetics and Population Health Division, Queensland Institute of Medical Research, Herston, Queensland, Australia
    Twin Res Hum Genet 14:111-8. 2011
    ..Early onset EC in carriers without tamoxifen use suggests that further study is required to assess association of modest EC risk with BRCA1/2 mutation status alone...
  40. pmc Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer
    Aaron G Lewis
    Department of Cancer Genetics, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Breast Cancer Res 7:R1005-16. 2005
    ..We hypothesized that germline mutations in FANCD2, BRIP1/BACH1, LMO4 and SFN may account for some of the unexplained multiple-case breast cancer families...
  41. pmc Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients
    Logan C Walker
    Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia
    PLoS Genet 6:e1000850. 2010
    ....
  42. pmc Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot"
    Sharon E Johnatty
    Queensland Institute of Medical Research, Brisbane, Australia
    PLoS Genet 6:e1001016. 2010
    ..ORper-allele 1.14 (1.04-1.24) p=0.003]. Our study adds to the growing evidence that, like the 8q24 locus, the telomerase reverse transcriptase locus at 5p15.33, is a general cancer susceptibility locus...
  43. ncbi request reprint The kallikrein 14 gene is down-regulated by androgen receptor signalling and harbours genetic variation that is associated with prostate tumour aggressiveness
    Felicity Lose
    Molecular Cancer Epidemiology Group, Genetics and Population Health Division, Queensland Institute of Medical Research, Herston, Brisbane, Australia
    Biol Chem 393:403-12. 2012
    ..Gln33Arg substitution in the KLK14 signal peptide region. Our findings provide further support for KLK14 as a marker of prognosis in prostate cancer...
  44. pmc ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes
    Amanda B Spurdle
    Queensland Institute of Medical Research, Brisbane, Australia
    Hum Mutat 33:2-7. 2012
    ..It is envisaged that the research and clinical application of models developed by ENIGMA will be relevant to the interpretation of sequence variants in other disease genes...
  45. ncbi request reprint Prohibitin 3' untranslated region polymorphism and breast cancer risk in Australian women
    Amanda B Spurdle
    Cancer and Cell Biology Division, Joint Experimental Oncology Programme, Queensland Institute of Medical Research, and University of Queensland, Brisbane, Australia
    Lancet 360:925-6. 2002
    ..96, 95% CI 0.80-1.16; p=0.7), or in subgroups defined by age or family history, or both. Hence, our results do not lend support to the hypothesis that this polymorphism contributes to risk of breast cancer...
  46. pmc Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry
    Michael D Walsh
    Familial Cancer Laboratory, I Floor, Bancroft Centre, Queensland Institute of Medical Research, Herston Road, Herston, Queensland 4006, Australia
    Clin Cancer Res 16:2214-24. 2010
    ..The recognition of breast cancer as a spectrum tumor in Lynch syndrome remains controversial. The aim of this study was to explore features of breast cancers arising in Lynch syndrome families...
  47. ncbi request reprint Prioritizing candidate genetic modifiers of BRCA1 and BRCA2 using a combinatorial analysis of global expression and polymorphism association studies of breast cancer
    Logan C Walker
    PO Royal Brisbane Hospital, Queensland Institute of Medical Research, Herston, QLD, Australia
    Methods Mol Biol 653:23-34. 2010
    ....
  48. ncbi request reprint The MnSOD Val9Ala polymorphism, dietary antioxidant intake, risk and survival in ovarian cancer (Australia)
    Sharon E Johnatty
    Queensland Institute of Medical Research, Brisbane, P O Royal Brisbane Hospital, Herston, QLD 4029, Australia
    Gynecol Oncol 107:388-91. 2007
    ..We assessed the MnSOD Val9Ala polymorphism and its interaction with dietary antioxidant intake in ovarian cancer risk and survival...
  49. ncbi request reprint The prohibitin 3' untranslated region polymorphism is not associated with risk of ovarian cancer
    Amanda B Spurdle
    Cancer and Cell Biology Division, The Queensland Institute of Medical Research, Herston, PO Royal Brisbane Hospital, Queensland 4029, Australia
    Gynecol Oncol 90:145-9. 2003
    ..We assessed the association of the prohibitin 3' untranslated region polymorphism with risk of ovarian cancer in the Australian population by case-control comparison...
  50. pmc Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms
    Christopher Pettigrew
    School of Molecular and Microbial Sciences, The University of Queensland, St, Lucia, Queensland, Australia
    Breast Cancer Res 7:R929-39. 2005
    ..Although predicting the effects of changes in consensus 5' and 3' splice sites near intron:exon boundaries is relatively straightforward, predicting the possible effects of changes in exonic splicing enhancers (ESEs) remains a challenge...
  51. doi request reprint Mutation deep within an intron of MSH2 causes Lynch syndrome
    Mark Clendenning
    Familial Cancer Laboratory, Queensland Institute of Medical Research, 300 Herston Road, Herston, QLD, Australia
    Fam Cancer 10:297-301. 2011
    ....
  52. pmc Variation in the RAD51 gene and familial breast cancer
    Felicity Lose
    Cancer and Cell Biology Division, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Breast Cancer Res 8:R26. 2006
    ..Few studies have investigated the role of coding region variation in the RAD51 gene in familial breast cancer, with only one coding region variant--exon 6 c.449G>A (p.R150Q)--reported to date...
  53. pmc Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
    Logan C Walker
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res 12:R102. 2010
    ..In this study, we evaluated 24 SNPs tagged to 14 candidate genes derived through a novel approach that analysed gene expression differences to prioritise candidate modifier genes for association studies...
  54. doi request reprint Vascular endothelial growth factor gene polymorphisms and ovarian cancer survival
    Felicity Lose
    Molecular Cancer Epidemiology, Queensland Institute of Medical Research, P O Royal Brisbane Hospital, Herston, Brisbane, QLD 4029, Australia
    Gynecol Oncol 119:479-83. 2010
    ..We sought to evaluate the effect of polymorphisms in the VEGF (Vascular Endothelial Growth Factor) gene on overall survival in ovarian cancer patients...
  55. ncbi request reprint The progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of breast cancer in Australian women
    Amanda B Spurdle
    Oncology Division, Joint Experimental Oncology Programme, The Queensland Institute of Medical Research, and The University of Queensland, Brisbane, 4029, Australia
    Cancer Epidemiol Biomarkers Prev 11:439-43. 2002
    ..However, despite its considerable size, our study cannot exclude a small reduced or increased risk associated with the T allele, especially the rare TT genotype...
  56. pmc Progesterone receptor gene variants and risk of endometrial cancer
    Tracy A O'Mara
    Genetics and Population Health Division, Queensland Institute of Medical Research, Herston, Brisbane, Queensland 4006, Australia
    Carcinogenesis 32:331-5. 2011
    ..Replication studies will be required to refine the risk estimate and to establish if this, or a correlated SNP, is the underlying causative variant...
  57. 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...
  58. ncbi request reprint Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance
    Georgia Chenevix-Trench
    Queensland Institute of Medical Research, Brisbane, Australia
    Cancer Res 66:2019-27. 2006
    ..Five of these neutral variants were also found in at least 1 of 180 healthy controls, suggesting that screening a large number of appropriate controls might be a useful adjunct to other methods for evaluation of unclassified variants...
  59. pmc A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survival
    Jyotsna Batra
    Australian Prostate Cancer Research centre Queensland and Institute of Health and Biomedical Innovation, Queensland University of Technology, Kelvin Grove, Brisbane, Queensland 4059, Australia
    BMC Cancer 11:119. 2011
    ..Our aim was to analyse the KLK15 gene for putative functional single nucleotide polymorphisms (SNPs) and assess the association of these and KLK15 HapMap tag SNPs with ovarian cancer survival...
  60. pmc Polymorphisms in the FGF2 gene and risk of serous ovarian cancer: results from the ovarian cancer association consortium
    Sharon E Johnatty
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Twin Res Hum Genet 12:269-75. 2009
    ..Overall genetic variation in FGF2 does not appear to play a role in susceptibility to ovarian cancer...
  61. doi request reprint No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women
    Jonathan Beesley
    Genetics and Population Health Division, Queensland Institute of Medical Research, Herston, 4006, Brisbane, Australia
    Breast Cancer Res Treat 126:235-9. 2011
    ..We therefore analysed the frequency of the functional SNP in 1342 cases and 2256 controls from two breast cancer studies of Caucasian women but found no evidence for an association with breast cancer risk...
  62. doi request reprint Improving identification of lynch syndrome patients: a comparison of research data with clinical records
    Yen Y Tan
    School of Medicine, The University of Queensland, 288 Herston Road, Herston, Queensland 4006, Australia
    Int J Cancer 132:2876-83. 2013
    ..Hospital records indicate poor recognition of family history. Application of research methods show improved identification and may facilitate appropriate referrals of endometrial cancer patients with possible Lynch syndrome...
  63. doi request reprint Aspirin, nonsteroidal anti-inflammatory drugs, paracetamol and risk of endometrial cancer: a case-control study, systematic review and meta-analysis
    Annette S Neill
    Queensland Institute of Medical Research, Genetics and Population Health Division, Herston, Brisbane, Australia
    Int J Cancer 132:1146-55. 2013
    ..72 (0.58-0.90) but there was no association for non-obese women. Overall these results suggest that aspirin may reduce the risk of endometrial cancer, particularly among obese women...
  64. pmc Possible genetic predisposition to lymphedema after breast cancer
    Beth Newman
    Institute of Health and Biomedical Innovation and School of Public Health, Queensland University of Technology, Brisbane, Australia
    Lymphat Res Biol 10:2-13. 2012
    ..Recent advances in the molecular biology underlying development of the lymphatic system and related congenital disorders implicate a number of potential candidate genes to explore in relation to secondary lymphedema...
  65. ncbi request reprint PSA/KLK3 AREI promoter polymorphism alters androgen receptor binding and is associated with prostate cancer susceptibility
    John Lai
    Cluster for Molecular Biotechnology, School of Life Sciences and Science Research Centre, Queensland University of Technology, Victoria Park Road, Kelvin Grove, Brisbane, QLD 4059, Australia
    Carcinogenesis 28:1032-9. 2007
    ....
  66. doi request reprint Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions
    Bryony A Thompson
    Queensland Institute of Medical Research, Herston, Brisbane, Australia
    Hum Mutat 34:255-65. 2013
    ..93). The MAPP + PolyPhen-2.1 output is sufficiently predictive to feed as a continuous variable into the quantitative Bayesian integrated evaluation for clinical classification of MMR gene missense substitutions...
  67. doi request reprint Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification
    Michael T Parsons
    Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia
    J Med Genet 49:151-7. 2012
    ..It is important to incorporate these features in multifactorial models aimed at predicting MMR mutation status...
  68. doi request reprint Use of talcum powder and endometrial cancer risk
    Annette S Neill
    Genetics and Population Health Division, Queensland Institute of Medical Research, Herston, Brisbane, Australia
    Cancer Causes Control 23:513-9. 2012
    ..We sought to confirm this association using data from the Australian National Endometrial Cancer Study (ANECS)...
  69. ncbi request reprint RAD52 Y415X truncation polymorphism and epithelial ovarian cancer risk in Australian women
    Livia Kelemen
    Cancer and Cell Biology Division, Queensland Institute of Medical Research and the University of Queensland, Brisbane, Australia
    Cancer Lett 218:191-7. 2005
    ..6 and 4% were observed among cases and controls, respectively. The risk estimate was 0.55 (95%CI 0.24-1.24), suggesting that the RAD52 Y415X polymorphism is not associated with epithelial ovarian cancer in Australian women...
  70. ncbi request reprint Human papillomavirus DNA detected in peripheral blood samples from healthy Australian male blood donors
    Alice Che Ha Chen
    The University of Queensland, Diamantina Institute for Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Woolloongabba, Brisbane, QLD, Australia
    J Med Virol 81:1792-6. 2009
    ..HPV was also isolated in the B cells, dendritic cells, NK cells, and neutrophils. To conclude, HPV present in PBMCs could represent a reservoir of virus and a potential new route of transmission...
  71. ncbi request reprint Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models
    Amanda B Spurdle
    Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia
    Curr Opin Genet Dev 20:315-23. 2010
    ..However there is need to be cautious of the noted limitations and caveats of the current model, some of which may be exacerbated by differences in ascertainment and biological pathways to disease for different cancer syndromes...
  72. doi request reprint A replication study examining novel common single nucleotide polymorphisms identified through a prostate cancer genome-wide association study in a Japanese population
    Jyotsna Batra
    Institute of Health and Biomedical Innovation, Queensland University of Technology, Kelvin Grove, Brisbane, Queensland 4059, Australia
    Am J Epidemiol 174:1391-5. 2011
    ....
  73. doi request reprint The use of predictive or prognostic genetic biomarkers in endometrial and other hormone-related cancers: justification for extensive candidate gene single nucleotide polymorphism studies of the matrix metalloproteinase family and their inhibitors
    Tracy A O'Mara
    Institute of Health and Biomedical Innovation, School of Life Sciences, Queensland University of Technology, Kelvin Grove, Queensland, Australia
    Cancer Epidemiol Biomarkers Prev 18:2352-65. 2009
    ..This review will provide an overview of current evidence for MMPs and associated SNPs in endometrial and other hormone-related cancers, to provide justification for the further detailed studies of MMP SNPs as cancer markers...
  74. doi request reprint Polycystic ovary syndrome increases the risk of endometrial cancer in women aged less than 50 years: an Australian case-control study
    Emily J Fearnley
    School of Population Health, The University of Queensland, Herston Road, Herston, QLD 4006, Australia
    Cancer Causes Control 21:2303-8. 2010
    ..Our aim was to assess the associations between PCOS, PCOS symptoms, and risk of endometrial cancer in women aged less than 50 years...
  75. ncbi request reprint ABCB1 (MDR 1) polymorphisms and progression-free survival among women with ovarian cancer following paclitaxel/carboplatin chemotherapy
    Sharon E Johnatty
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Clin Cancer Res 14:5594-601. 2008
    ..Although the functional consequences of ABCB1 polymorphisms have been the subject of numerous studies, few have assessed the association with clinical outcome...
  76. ncbi request reprint Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and females
    Sarah E Medland
    Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane 4029, Australia
    Behav Genet 35:735-44. 2005
    ..Thus, consistent with Witelson's theory of testosterone action, in all three samples the likelihood of left handedness increased in those individuals with variants of the androgen receptor associated with lower testosterone levels...
  77. ncbi request reprint The role of glutathione-S-transferase polymorphisms in ovarian cancer survival
    Christina M Nagle
    Cancer and Population Studies Division, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, QLD 4029, Australia
    Eur J Cancer 43:283-90. 2007
    ..02). The results of this study, the largest to date, are consistent with a number of previous smaller studies which have also observed that reduced GST function was associated with better survival outcomes in patients with ovarian cancer...
  78. doi request reprint Gynecological conditions and the risk of endometrial cancer
    Ingrid J Rowlands
    Genetics and Population Health Division, Queensland Institute of Medical Research, 300 Herston Road, Herston, Brisbane 4006, Australia
    Gynecol Oncol 123:537-41. 2011
    ..To examine the association between gynecological conditions (including uterine fibroids, endometriosis, pelvic inflammatory disease and infections of the tubes/womb), and risk of endometrial cancer overall and by histological subtype...
  79. ncbi request reprint The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years
    Amanda B Spurdle
    Oncology Division, Joint Experimental Oncology Programme, The Queensland Institute of Medical Research and The University of Queensland, Brisbane, 4029 Australia
    Cancer Epidemiol Biomarkers Prev 11:413-6. 2002
    ..The BRCA2 N372H polymorphism appears to be associated with a modest recessively inherited risk of breast cancer in Australian women. This result is consistent with the findings for Northern European women...
  80. ncbi request reprint Season of birth and risk of endometrial cancer
    Ingrid J Rowlands
    Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
    Asian Pac J Cancer Prev 12:1193-6. 2011
    ..Using data from the Australian National Endometrial Cancer Study, a population-based case-control study of 1399 cases and 1539 controls, we examined the association between season of birth and risk of endometrial cancer...
  81. doi request reprint Molecular, pathologic, and clinical features of early-onset endometrial cancer: identifying presumptive Lynch syndrome patients
    Michael D Walsh
    Familial Cancer Laboratory and Molecular Cancer Epidemiology Laboratory, Queensland Institute of Medical Research, Herston, Australia
    Clin Cancer Res 14:1692-700. 2008
    ..The aim of this study was to determine the incidence of Lynch syndrome in a series of young-onset EC, and to identify molecular, clinical, and pathologic features that may alert clinicians to the presence of this disorder...