Georgia Chenevix-Trench

Summary

Affiliation: Queensland Institute of Medical Research
Country: Australia

Publications

  1. ncbi request reprint Chromosome 8 genetic analysis and phenotypic characterization of 21 ovarian cancer cell lines
    Jeremy M Arnold
    The Queensland Institute of Medical Research, Queensland 4029, Hernston, Australia
    Cancer Genet Cytogenet 139:109-14. 2002
  2. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
  3. pmc The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia
    A Marsh
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Breast Cancer Res 3:346-9. 2001
  4. pmc No germline mutations in the histone acetyltransferase gene EP300 in BRCA1 and BRCA2 negative families with breast cancer and gastric, pancreatic, or colorectal cancer
    Ian G Campbell
    Victorian Breast Cancer Research Consortium Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Victoria, Australia
    Breast Cancer Res 6:R366-71. 2004
  5. 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
  6. ncbi request reprint Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers
    G Chenevix-Trench
    Queensland Institute of Medical Research, Post Office Royal Brisbane Hospital, QLD, 4029 Herston, Australia
    Fam Cancer 4:73-5. 2005
  7. 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
  8. pmc An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)
    Georgia Chenevix-Trench
    Queensland Institute for Medical Research, Brisbane, Australia
    Breast Cancer Res 9:104. 2007
  9. 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
  10. 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

Research Grants

  1. The role of the ATM gene in familial breast cancer
    Georgia Chenevix Trench; Fiscal Year: 2005
  2. The role of the ATM gene in familial breast cancer
    Georgia Chenevix Trench; Fiscal Year: 2006
  3. The role of the ATM gene in familial breast cancer
    Georgia Chenevix Trench; Fiscal Year: 2007

Detail Information

Publications91

  1. ncbi request reprint Chromosome 8 genetic analysis and phenotypic characterization of 21 ovarian cancer cell lines
    Jeremy M Arnold
    The Queensland Institute of Medical Research, Queensland 4029, Hernston, Australia
    Cancer Genet Cytogenet 139:109-14. 2002
    ..We identified four cell lines (JAM, OVCA4, OVCA5, and OVCA8) that were hemizygous for 8p and that formed colonies in soft agar and tumors in nude mice, making them ideal cell lines for chromosome 8 or candidate gene transfer...
  2. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
    ..2)...
  3. pmc The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia
    A Marsh
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Breast Cancer Res 3:346-9. 2001
    ..0003). If this relatively frequent occurrence of G13964C in familial breast cancer and absence in control individuals were confirmed, then this would suggest that the G13964C variant plays a role in breast cancer susceptibility...
  4. pmc No germline mutations in the histone acetyltransferase gene EP300 in BRCA1 and BRCA2 negative families with breast cancer and gastric, pancreatic, or colorectal cancer
    Ian G Campbell
    Victorian Breast Cancer Research Consortium Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Victoria, Australia
    Breast Cancer Res 6:R366-71. 2004
    ..We hypothesized that germline mutations in EP300 may account for some breast cancer families that include cases of gastric, pancreatic and/or colorectal cancer...
  5. 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...
  6. ncbi request reprint Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers
    G Chenevix-Trench
    Queensland Institute of Medical Research, Post Office Royal Brisbane Hospital, QLD, 4029 Herston, Australia
    Fam Cancer 4:73-5. 2005
    ....
  7. 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...
  8. pmc An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)
    Georgia Chenevix-Trench
    Queensland Institute for Medical Research, Brisbane, Australia
    Breast Cancer Res 9:104. 2007
    ....
  9. 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...
  10. 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...
  11. 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...
  12. doi request reprint Frequent somatic mutations of GATA3 in non-BRCA1/BRCA2 familial breast tumors, but not in BRCA1-, BRCA2- or sporadic breast tumors
    Jeremy M Arnold
    Queensland Institute of Medical Research, Royal Brisbane Hospital, Herston, QLD, Australia 4029
    Breast Cancer Res Treat 119:491-6. 2010
    ..It is possible that GATA3 mutations occur earlier in the evolution of BRCAx tumors, compared to BRCA1, BRCA2 or sporadic tumors, and are therefore easier to detect by direct sequencing in the presence of some stromal contamination...
  13. doi request reprint Gene expression profiling of formalin-fixed, paraffin-embedded familial breast tumours using the whole genome-DASL assay
    Nic Waddell
    The Queensland Institute of Medical Research, Brisbane, Australia
    J Pathol 221:452-61. 2010
    ....
  14. 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...
  15. ncbi request reprint Analysis of the transcription regulator, CNOT7, as a candidate chromosome 8 tumor suppressor gene in colorectal cancer
    James Flanagan
    The Queensland Institute of Medical Research, Royal Brisbane Hospital, Herston, Queensland, Australia
    Int J Cancer 106:505-9. 2003
    ..The rarity of somatic mutations in CNOT7, and its expression in primary colorectal tumors and cell lines, suggests that CNOT7 is not the target tumor suppressor gene in the 8p22-23.1 CRCSR...
  16. 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
    ....
  17. 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...
  18. 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...
  19. doi request reprint Subtypes of familial breast tumours revealed by expression and copy number profiling
    Nic Waddell
    Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res Treat 123:661-77. 2010
    ..This study highlights the heterogeneity of familial tumours and the clinical consequences for treatment and prognosis...
  20. 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...
  21. 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
    ....
  22. 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...
  23. 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
    ....
  24. ncbi request reprint Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling
    Nic Waddell
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Genes Chromosomes Cancer 45:1169-81. 2006
    ..These data suggest that the V2424G missense mutation acts largely as a dominant negative in terms of the associated expression profiles...
  25. 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...
  26. 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
    ....
  27. 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...
  28. 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...
  29. 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...
  30. 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...
  31. 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...
  32. doi request reprint Gene expression profiling of tumour epithelial and stromal compartments during breast cancer progression
    Ana Cristina Vargas
    UQ Centre for Clinical Research, The University of Queensland, Herston, Brisbane, QLD, Australia
    Breast Cancer Res Treat 135:153-65. 2012
    ..We propose that these expression changes could be involved in facilitating the transition from in situ disease to invasive cancer and may thus mark a critical point in disease development...
  33. 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
    ....
  34. 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...
  35. 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...
  36. pmc ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: a comprehensive analysis from the Ovarian Cancer Association Consortium and The Cancer Genome Atlas
    Sharon E Johnatty
    Queensland Institute of Medical Research, Brisbane, Australia
    Gynecol Oncol 131:8-14. 2013
    ..We comprehensively evaluated this gene and flanking regions for an association with clinical outcome in epithelial ovarian cancer (EOC)...
  37. 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...
  38. 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...
  39. 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...
  40. doi request reprint Evaluating the repair of DNA derived from formalin-fixed paraffin-embedded tissues prior to genomic profiling by SNP-CGH analysis
    Abdel Nasser Hosein
    Cancer Genetics Laboratory, Queensland Institute of Medical Research, Herston Qld, Australia
    Lab Invest 93:701-10. 2013
    ....
  41. 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...
  42. 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...
  43. 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...
  44. pmc The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes
    Julie K Johnson
    Queensland Institute of Medical Research, Brisbane, Australia
    BMC Cancer 12:246. 2012
    ..We therefore attempted to use GINI on lymphoblastoid cell lines (LCLs) from multiple-case, non- BRCA1/2 breast cancer families in order to identify additional high-risk breast cancer susceptibility genes...
  45. 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...
  46. 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...
  47. pmc Genome-wide association study for ovarian cancer susceptibility using pooled DNA
    Yi Lu
    Queensland Institute of Medical Research, Brisbane, Australia
    Twin Res Hum Genet 15:615-23. 2012
    ..However, our study lacked power to make clear statements on the existence of hitherto untagged small-effect variants...
  48. doi request reprint Mutation analysis of RAD51L1 (RAD51B/REC2) in multiple-case, non-BRCA1/2 breast cancer families
    Julie Johnson
    Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane, QLD, 4029, Australia
    Breast Cancer Res Treat 129:255-63. 2011
    ..Therefore, our results suggest that RAD51L1 is unlikely to represent a high-penetrance breast cancer susceptibility gene...
  49. 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...
  50. ncbi request reprint Mutation and expression analysis of LZTS1 in ovarian cancer
    Jeremy M Arnold
    Queensland Institute of Medical Research, P O Box Royal Brisbane Hospital, Herston, QLD 4029, Australia
    Cancer Lett 233:151-7. 2006
    ..We have also analysed the coding region of the LZTS1 gene in 87 primary ovarian adenocarcinomas by DHPLC and detected a single silent somatic mutation. These data indicate that LZTS1 is not the target of LOH at 8p22 in ovarian cancer...
  51. pmc Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers
    Jonathan Beesley
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    PLoS ONE 6:e24987. 2011
    ..We demonstrate that the minor alleles at rs2736109, and at an additional TERT promoter SNP, rs2736108, are associated with decreased breast cancer risk, and that the combination of both SNPs substantially reduces TERT promoter activity...
  52. ncbi request reprint BRAF polymorphisms and the risk of ovarian cancer of low malignant potential
    Livia Kelemen
    Queensland Institute of Medical Research, 300 Herston Rd, Herston, QLD 4006, Australia
    Gynecol Oncol 97:807-12. 2005
    ..6%. We therefore hypothesized that the same BRAF haplotype may confer an increased risk of serous ovarian tumors of low malignant potential...
  53. pmc HER3 and downstream pathways are involved in colonization of brain metastases from breast cancer
    Leonard Da Silva
    Molecular and Cellular Pathology, The University of Queensland Centre for Clinical Research, and School of Medicine, Building 918 B71, RBWH complex, Brisbane, 4029, Australia
    Breast Cancer Res 12:R46. 2010
    ..Metastases to the brain from breast cancer have a high mortality, and basal-like breast cancers have a propensity for brain metastases. However, the mechanisms that allow cells to colonize the brain are unclear...
  54. 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...
  55. 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...
  56. doi request reprint Treatment of triple-negative breast cancer using anti-EGFR-directed radioimmunotherapy combined with radiosensitizing chemotherapy and PARP inhibitor
    Fares Al-Ejeh
    Signal Transduction Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    J Nucl Med 54:913-21. 2013
    ....
  57. pmc A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor
    Enda M Byrne
    Queensland Institute of Medical Research, Brisbane, Australia
    Sleep 35:967-75. 2012
    ..To identify common genetic variants that predispose to caffeine-induced insomnia and to test whether genes whose expression changes in the presence of caffeine are enriched for association with caffeine-induced insomnia...
  58. 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...
  59. doi request reprint Breast cancer stem cells: treatment resistance and therapeutic opportunities
    Fares Al-Ejeh
    Signal Transduction Lab, Queensland Institute of Medical Research, 300 Herston Road, Brisbane, Queensland 4006, Australia
    Carcinogenesis 32:650-8. 2011
    ..As a means to increase the rates of breast cancer cure, several approaches to specific targeting of the treatment-resistant cell population exist and include methods for addressing the problem of radioresistance in particular...
  60. 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...
  61. ncbi request reprint Transfer of chromosome 8 into two breast cancer cell lines: total exclusion of three regions indicates location of putative in vitro growth suppressor genes
    Peter Wilson
    Queensland Institute of Medical Research, RBH Post Office, Herston, Brisbane, QLD 4029, Australia
    Cancer Genet Cytogenet 143:100-12. 2003
    ....
  62. 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...
  63. 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...
  64. ncbi request reprint ATM and genome maintenance: defining its role in breast cancer susceptibility
    Kum Kum Khanna
    The Queensland Institute of Medical Research, 300 Herston Road, Herston, Queensland 4006, Australia
    J Mammary Gland Biol Neoplasia 9:247-62. 2004
    ..A more comprehensive analysis of ATM is needed in large case-control studies, and in multiple-case breast cancer families...
  65. 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...
  66. pmc Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers
    Juliet D French
    School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Queensland 4072, Australia
    Am J Hum Genet 92:489-503. 2013
    ..Chromatin conformation studies demonstrate that these enhancer and silencer elements interact with each other and with their likely target gene, CCND1...
  67. ncbi request reprint Mapping of a candidate colorectal cancer tumor-suppressor gene to a 900-kilobase region on the short arm of chromosome 8
    James M Flanagan
    The Queensland Institute of Medical Research, Royal Brisbane Hospital, Herston, Queensland, Australia
    Genes Chromosomes Cancer 40:247-60. 2004
    ..Despite the rarity of somatic mutations, the expression data suggest that KIAA1456 is still a candidate for the putative 8p colorectal cancer tumor-suppressor gene...
  68. ncbi request reprint A novel corepressor, BCoR-L1, represses transcription through an interaction with CtBP
    Julia K Pagan
    Queensland Institute of Medical Research, 300 Herston Road, Herston 4029, Queensland, Australia
    J Biol Chem 282:15248-57. 2007
    ....
  69. doi request reprint What's in a cancer syndrome? Genes, phenotype and pathology
    Nicola Wayte
    The Queensland Institute of Medical Research, Brisbane, Australia
    Pathology 40:247-59. 2008
    ....
  70. ncbi request reprint BRCA2 Arg372Hispolymorphism and epithelial ovarian cancer risk
    Annika Auranen
    CRC Department of Oncology, Strangeways Research Laboratory, Cambridge, UK
    Int J Cancer 103:427-30. 2003
    ..66 (1.17-2.54) for the 2 studies combined (p = 0.005). The BRCA2 372 HH genotype appears to be associated with an increased risk of ovarian cancer of a similar magnitude to that reported for breast cancer...
  71. ncbi request reprint Germ-line mutations in BRCA1 or BRCA2 in the normal breast are associated with altered expression of estrogen-responsive proteins and the predominance of progesterone receptor A
    Patricia A Mote
    Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
    Genes Chromosomes Cancer 39:236-48. 2004
    ..This is likely to lead to changes in progesterone signaling in hormone-dependent tissues, which may be a factor in the increased risk of cancer in these tissues in women with germ-line BRCA1 or BRCA2 mutations...
  72. ncbi request reprint Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer
    Simon A Gayther
    Translational Research Laboratories, University College London, London, United Kingdom
    Cancer Res 67:3027-35. 2007
    ..This study highlights the need for multicenter collaborations for genetic association studies...
  73. pmc RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK
    Am J Hum Genet 81:1186-200. 2007
    ..Thus, 135G-->C may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers...
  74. ncbi request reprint Regressive logistic and proportional hazards disease models for within-family analyses of measured genotypes, with application to a CYP17 polymorphism and breast cancer
    Jisheng S Cui
    Centre for Genetic Epidemiology, The University of Melbourne, Melbourne, Victoria, Australia
    Genet Epidemiol 24:161-72. 2003
    ..This analytical approach is well-suited to the data that arise from population-based case-control-family studies, in which cases, controls and relatives are studied, and genotype is measured for some but not all subjects...
  75. ncbi request reprint Progesterone receptor promoter +331A polymorphism is associated with a reduced risk of endometrioid and clear cell ovarian cancers
    Andrew Berchuck
    Division of Gynecologic Oncology, Duke University Medical Center, Box 3079, Durham, NC 27710, USA
    Cancer Epidemiol Biomarkers Prev 13:2141-7. 2004
    ..In this study, we sought to determine whether this polymorphism affects ovarian cancer risk...
  76. ncbi request reprint Common chromosomal fragile site FRA16D mutation in cancer cells
    Merran Finnis
    ARC Special Research Centre for the Molecular Genetics of Development, ARC NHMRC Research Network in Genes and Environment in Development, School of Molecular and Biomedical Sciences, The University of Adelaide, South Australia
    Hum Mol Genet 14:1341-9. 2005
    ..Most cell lines with FRA16D homozygous deletions also have FRA3B deletions, therefore common fragile sites represent highly susceptible genome-wide targets for a distinct form of mutation...
  77. pmc AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, 200 First Street Southwest, Rochester, MN 55905, USA
    Cancer Epidemiol Biomarkers Prev 16:1416-21. 2007
    ..In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers...
  78. ncbi request reprint A common coding variant in CASP8 is associated with breast cancer risk
    Angela Cox
    Sheffield University Medical School, Sheffield S10 2RX, UK
    Nat Genet 39:352-8. 2007
    ..02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies...
  79. pmc A genome wide linkage search for breast cancer susceptibility genes
    Paula Smith
    CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Genes Chromosomes Cancer 45:646-55. 2006
    ..They also indicate that no single gene is likely to account for a large fraction of the familial aggregation of breast cancer that is not due to mutations in BRCA1 or BRCA2...
  80. doi request reprint Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis
    Bernd Frank
    Helmholtz University Group Molecular Epidemiology, Division of Molecular Genetic Epidemiology, German Cancer Research Center DKFZ, Im Neuenheimer Feld 581, 69120 Heidelberg, Germany
    J Natl Cancer Inst 100:437-42. 2008
    ..10 (95% CI = 1.04 to 1.17, P = .001). Among the combined subset of 2795 familial breast cancer patients, the respective ORs were 1.27 (95% CI = 1.12 to 1.45, P = .0003) and 1.16 (95% CI = 1.06 to 1.27, P = .001)...
  81. pmc Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
    Am J Hum Genet 82:937-48. 2008
    ....
  82. pmc Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource
    Graham J Mann
    Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, New South Wales, Australia
    Breast Cancer Res 8:R12. 2006
    ....
  83. pmc Consortium analysis of 7 candidate SNPs for ovarian cancer
    Susan J Ramus
    Translational Research Laboratory, University College London EGA Institute for Women s Health, London, United Kingdom
    Int J Cancer 123:380-8. 2008
    ..These null results for SNPs identified from relatively large initial studies shows the importance of replicating associations by a consortium approach...
  84. pmc Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics
    Montserrat Garcia-Closas
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Marylan, United States of America
    PLoS Genet 4:e1000054. 2008
    ..Understanding the etiologic heterogeneity of breast cancer may ultimately result in improvements in prevention, early detection, and treatment...
  85. doi request reprint Role of genetic polymorphisms in ovarian cancer susceptibility: development of an international ovarian cancer association consortium
    Andrew Berchuck
    Division of Gynecologic Oncology, Duke University Medical Center, Durham, NC 27710, USA
    Adv Exp Med Biol 622:53-67. 2008
  86. 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
    ....
  87. ncbi request reprint Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk
    Bettina Kuschel
    Cancer Research UK, Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, United Kingdom
    Cancer Epidemiol Biomarkers Prev 14:1828-31. 2005
    ..None of the three single nucleotide polymorphisms were significantly associated with the incidence of breast cancer...
  88. ncbi request reprint Incessant ovulation, inflammation and epithelial ovarian carcinogenesis: revisiting old hypotheses
    Jean S Fleming
    Eskitis Institute for Cell and Molecular Therapies, School of Biomolecular and Biomedical Sciences, Griffith University Nathan Campus, Nathan, QLD 4111, Australia
    Mol Cell Endocrinol 247:4-21. 2006
    ..The emergence of laser-capture microdissection and expression profiling by microarray technologies offers the promise of defining these pathways more accurately, as well as providing us with the tools for earlier diagnosis...
  89. ncbi request reprint Two ATM variants and breast cancer risk
    Deborah Thompson
    Cancer Research United Kingdom Genetic Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom
    Hum Mutat 25:594-5. 2005
    ..1066-6T>G confers an elevated risk. Analysis of additional families will be necessary to define more precisely the risk, if any, associated with c.1066-6T>G...
  90. pmc Genome-wide association study identifies novel breast cancer susceptibility loci
    Douglas F Easton
    CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK
    Nature 447:1087-93. 2007
    ..05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach...
  91. pmc Patterns of somatic mutation in human cancer genomes
    Christopher Greenman
    Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 446:153-8. 2007
    ..Systematic sequencing of cancer genomes therefore reveals the evolutionary diversity of cancers and implicates a larger repertoire of cancer genes than previously anticipated...

Research Grants4

  1. The role of the ATM gene in familial breast cancer
    Georgia Chenevix Trench; Fiscal Year: 2005
    ..The results of this research may directly affect treatment decisions, and improve preventive monitoring in high-risk families. ..
  2. The role of the ATM gene in familial breast cancer
    Georgia Chenevix Trench; Fiscal Year: 2006
    ..The results of this research may directly affect treatment decisions, and improve preventive monitoring in high-risk families. ..
  3. The role of the ATM gene in familial breast cancer
    Georgia Chenevix Trench; Fiscal Year: 2007
    ..The results of this research may directly affect treatment decisions, and improve preventive monitoring in high-risk families. ..