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2007 Journal Article A novel corepressor, BCoR-L1, represses transcription through an interaction with CtBPPagan, Julia K., Arnold, Jeremy, Hanchard, Kim J., Kumar, Raman, Bruno, Tiziana, Jones, Mathew J.K., Richard, Derek J., Forrest, Alistair, Spurdle, Amanda, Verdin, Eric, Crossley, Merlin, Fanciulli, Maurizio, Chenevix-Trench, Georgia, Young, David B. and Khanna, Kum Kum (2007). A novel corepressor, BCoR-L1, represses transcription through an interaction with CtBP. Journal of Biological Chemistry, 282 (20), 15248-15257. doi: 10.1074/jbc.M700246200 |
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2007 Journal Article 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 riskSpurdle, Amanda B., Chang, Jiun-Horng, Byrnes, Graham B., Chen, Xiaoqing, Dite, Gillian S., McCredie, Margaret R.E., Giles, Graham G., Southey, Melissa C., Chenevix-Trench, Georgia and Hopper, John L. (2007). 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. Cancer Epidemiology Biomarkers & Prevention, 16 (4), 769-774. doi: 10.1158/1055-9965.EPI-06-0776 |
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2007 Journal Article Stability of BAT26 in Lynch syndrome colorectal tumoursJaskowski, Lesley A., Young, Joanne, Jackson, Leigh, Arnold, Sven, Barker, Melissa A., Walsh, Michael D., Buchanan, Daniel D., Holman, Samantha, Mensink, Kara A., Jenkins, Mark A., Hopper, John L., Thibodeau, Stephen N., Jass, Jeremy R. and Spurdle, Amanda B. (2007). Stability of BAT26 in Lynch syndrome colorectal tumours. European Journal of Human Genetics, 15 (2), 139-141. doi: 10.1038/sj.ejhg.5201740 |
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2007 Journal Article BCoR-L1 variation and breast cancerLose, Felicity, Arnold, Jeremy, Young, David B., Brown, Carolyn J., Mann, Graham J., Pupo, Gulietta M., Khanna, Kum Kum, Chenevix-Trench, Georgia and Spurdle, Amanda B. (2007). BCoR-L1 variation and breast cancer. Breast Cancer Research, 9 (4) R54, 1-12. doi: 10.1186/bcr1759 |
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2006 Journal Article Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variantsLovelock P. K., Healey, S., Au, W., Sum, E, Y. M., Tesoriero, A., Wong, E. M., Hinson, S., Brinkworth, R., Bekessy, A., Diez, O., Izatt, L., Solomon, E., Jenkins, M., Renard, H., Hopper, J., Waring, P., kConFab Investigators, Tavtigian, S. V., Goldgar, D., Lindeman, G J ., Visvader, J. E., Couch, F. J., Henderson, B. R., Southey, M., Chenevix-Trench, G., Spurdle, A. B. and Brown, M. A. (2006). Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants. Journal of Medical Genetics, 43 (1), 74-83. doi: 10.1136/jmg.2005.033258 |
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2006 Journal Article Genetic and Histopathologic Evaluation of BRCA1 and BRCA2 DNA Sequence Variance of Unknown Clinical SignificanceChenevix-Trench, Georgia, Healey, Sue, Lakhani, Sunil, Waring, Paul, Cummings, Margaret, Brinkworth, Ross, Deffenbaugh, Amie M., Burbidge, Lynn Anne, Pruss, Dmitry, Judkins, Thad, Scholl, Tom, Bekessy, Anna, Marsh, Anna, Lovelock, Paul, Wong, Ming, Tesoriero, Andrea, Renard, Helene, Southey, Melissa, Hopper, John L., Yannoukakos, Koulis, Brown, Melissa, kConFab Investigators, Easton, Douglas, Tavtigian, Sean V., Goldgar, David and Spurdle, Amanda B. (2006). Genetic and Histopathologic Evaluation of BRCA1 and BRCA2 DNA Sequence Variance of Unknown Clinical Significance. Cancer Research, 66 (4), 2019-2027. doi: 10.1158/0008-5472.CAN-05-3546 |
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2006 Journal Article The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriersSpurdle, Amanda B., Antoniou, Antonis C., Keleman, Livia, Holland, Helene, Peock, Susan, Cook, Margaret R., Smith, Paula L., Greene, Mark H., Simard, Jacques, Plourde, Marie, Southey, Melissa C., Godwin, Andrew K., Beck, Jeanne, Miron, Alexander, Daly, Mary B., Santella, Regina M., Hopper, John L., John, Esther M., Andrulis, Irene L., Durocher, Francine, Struewing, Jeffery P., Easton, Douglas F. and Chenevix-Trench, Georgia (2006). The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology, Biomarkers and Prevention, 15 (1), 76-79. doi: 10.1158/1055-9965.EPI-05-0709 |
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2006 Journal Article Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resourceMann, Graham J., Thorne, Heather, Balleine, Rosemary L., Butow, Phyllis N., Clarke, Christine L., Edkins, Edward, Evans, Gerda M., Fereday, Sian, Hann, Eric, Gattas, Michael, Giles, Graham G., Goldblatt, Jack, Hopper, John L., Kirk, Judy, Leary, Jennifer A., Lindeman, Geoffrey, Niedermayr, Eveline, Phillips, Kelly-Anne, Picken, Sandra, Pupo, Gulietta M., Saunders, Christobel, Scott, Clare L., Spurdle, Amanda B., Suthers, Graeme, Tucker, Kathy and Chenevix-Trench, Georgia (2006). Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Research, 8 (1) R12. doi: 10.1186/bcr1377 |
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2006 Journal Article Variation in the RAD51 gene and familial breast cancerLose, Felicity, Lovelock, Paul, Chenevix-Trench, Georgia, Mann, Graham J., Pupo, Gulietta M. and Spurdle, Amanda B. (2006). Variation in the RAD51 gene and familial breast cancer. Breast Cancer Research, 8 (3) R26, R26-1-R26-7. doi: 10.1186/bcr1415 |
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2005 Journal Article Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and femalesMedland, Sarah E., Duffy, David L., Spurdle, Amanda B., Wright, Margaret J., Geffen, Gina M., Montgomery, Grant W. and Martin, Nicholas G. (2005). Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and females. Behavior Genetics, 35 (6), 735-744. doi: 10.1007/s10519-005-6187-3 |
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2005 Journal Article Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancerLewis, Aaron G., Flanagan, James, Marsh, Anna, Pupo, Gulietta M., Mann, Graham, Spurdle, Amanda B., Lindeman, Geoffrey J., Visvader, Jane E., Brown, Melissa A., Chenevix-Trench, Georgia and KConFab, Kathleen Cuningham Foundation (2005). Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer. Breast Cancer Research, 7 (6) R1005, R1005-R1016. doi: 10.1186/bcr1336 |
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2005 Journal Article 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 polymorphismsPettigrew, Christopher, Wayte, Nicola, Lovelock, Paul K., Tavtigian, Sean V, Chenevix-Trench, Georgia, Spurdle, Amanda B. and Brown, Melissa A. (2005). 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. Breast Cancer Research, 7 (6) R929, R929-R939. doi: 10.1186/bcr1324 |
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2005 Journal Article Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer riskKuschel, Bettina, Chenevix- Trench, Georgia, Spurdle, Amanda B., Chen, Xiaoqing, Hopper, John L., Giles, Graham G., McCredie, Margret, Chang-Claude, Jenny, Gregory, Catherine S., Day, Nick E., Easton, Douglas F., Ponder, Bruce A. J., Dunning, Alison M. and Pharoah, Paul D. P. (2005). Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk. Cancer Epidemiology, Biomarkers and Prevention, 14 (7), 1828-1831. doi: 10.1158/1055-9965.EPI-04-0807 |
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2005 Journal Article Two ATM variants and breast cancer riskThompson, Deborah, Antoniou, Antonis C., Jenkins, Mark, Marsh, Anna, Chen, Xiaoqing, Wayne, Tierney, Tesoriero, Andrea, Milne, Roger, Spurdle, Amanda, Thorstenson, Yvonne, Southey, Melissa, Giles, Graham G., kConFab Investigators,, Khanna, Kum Kum, Sambrook, Joseph, Oefner, Peter, Goldgar, David, Hopper, John L., Easton, Doug and Chenevix-Trench, Georgia (2005). Two ATM variants and breast cancer risk. Human Mutation, 25 (6), 594-595. doi: 10.1002/humu.9344 |
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2005 Journal Article Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individualsJekimovs, C. R., Chen, X., Arnold, J., Gatei, M., Richardson, D. J., kConFab Investigators, Spurdle, A. B., Khanna, K. K. and Chenevix-Trench, G. (2005). Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals. British Journal Of Cancer, 92 (4), 784-790. doi: 10.1038/sj.bjc.6602381 |
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2005 Conference Publication Genetic and immunohistopathological evaluation of BRCA1 and BRCA2 unclassified variantsChenevix-Trench, G., Healey, S. C., Lakhani, S., Brinkworth, R. I., KConFab, K. C. F., Marsh, A., Brown, M. A., Easton, D. F., Tavtigian, S., Goldgar, D. E. and Spurdle, A. B. (2005). Genetic and immunohistopathological evaluation of BRCA1 and BRCA2 unclassified variants. Familial Cancer 2005: Research and Practice, Couran Cove, Queensland, 30 August - 3 September, 2005. |
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2005 Conference Publication Evolutionary conservation analysis may help identify functional exonic splice enhancer motifs in BRCA1 and BRCA2Brown, M. A., Chenevix-Trench, G., Lovelock, P. K., Pettigrew, C., Spurdle, A. B., Tavtigian, S. and Wayte, N. J. (2005). Evolutionary conservation analysis may help identify functional exonic splice enhancer motifs in BRCA1 and BRCA2. Familial Cancer 2005: Research and Practice, Couran Cove, Queensland, 30 August - 3 September, 2005. |
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2005 Journal Article CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family StudyChang, Jiun-Horng, Gertig, Dorota M., Chen, Xiaoqing, Dite, Gillian S., Jenkins, Mark A., Milne, Roger L., Southey, Melissa C., McCredie, Margaret R. E., Giles, Graham G., Chenevix-Trench, Georgia, Hopper, John L. and Spurdle, Amanda B. (2005). CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study. Breast Cancer Research, 7 (4) R513, R513-R521. doi: 10.1186/bcr1040 |
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2005 Journal Article Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer familiesTesoriero, A. A., Wong, E. M., Jenkins, M. A., Hopper, J. L., KConFab, K. C. F., Brown, M. A., Chenevix-Trench, G., Spurdle, A. B. and Southey, M. C. (2005). Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families. Human Mutation, 26 (5), 495-495. doi: 10.1002/humu.9379 |
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2005 Journal Article RAD52 Y415X truncation polymorphism and epithelial ovarian cancer risk in Australian womenKelemen, Livia, Spurdle, Amanda B., Purdie, David M., Gertig, Dorota and Chenevix-Trench, Georgia (2005). RAD52 Y415X truncation polymorphism and epithelial ovarian cancer risk in Australian women. Cancer Letters, 218 (2), 191-197. doi: 10.1016/j.canlet.2004.09.023 |
