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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 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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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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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 Double-strand break repair gene polymorphisms and risk of breast or ovarian cancerWebb, Penelope, Hopper, John L., Newman, Beth, Chen, Xiaoqing, Kelemen, Livia, Giles, Graham G., Southey, Melissa C., Chenevix-Trench, Georgia and Spurdle, Amanda B. (2005). Double-strand break repair gene polymorphisms and risk of breast or ovarian cancer. Cancer Epidemiology Biomarkers and Prevention, 14 (2), 319-323. doi: 10.1158/1055-9965.EPI-04-0335 |
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2005 Conference Publication Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell line phenotypic variabilityBrown, M. A., Chenevix-Trench, G., French, J. D., Hobson, K., KConFab Investigators, Lovelock, P. K., Marsh, A., McKay, M., Pandeya, N., Sculley, T., Southey, M. C., Sprung, C. N., Spurdle, A. B. and Wong, E. M. (2005). Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell line phenotypic variability. Familial Cancer 2005: Research and Practice, Couran Cove, 30 August - 3 September, 2005. |
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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 |
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2003 Journal Article BRCA2 Arg372His polymorphism and epithelial ovarian cancer riskAuranen, Annika, Spurdle, Amanda B., Chen, Xiaoqing, Lipscombe, Julian, Purdie, David M., Hopper, John L., Green, Adele, Healey, Catherine S., Redman, Karen, Dunning, Alison M., Pharoah, Paul D., Easton, Douglas F., Ponder, Bruce A.J., Chenevix-Trench, Georgia and Novik, Karen L. (2003). BRCA2 Arg372His polymorphism and epithelial ovarian cancer risk. International Journal of Cancer, 103 (3), 427-430. doi: 10.1002/ijc.10814 |
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2002 Journal Article Prohibitin 3′ untranslated region polymorphism and breast cancer risk in Australian womenSpurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, McCredie, Margaret R. E., Giles, Graham G., Newman, Beth and Chenevix-Trench, Georgia (2002). Prohibitin 3′ untranslated region polymorphism and breast cancer risk in Australian women. Lancet, 360 (9337), 925-926. doi: 10.1016/S0140-6736(02)11043-9 |
