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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 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 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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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 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 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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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 |
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2002 Journal Article The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 yearsSpurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, Dite, Gillian S., Cui, Jisheng, McCredie, Margaret R. E., Giles, Graham G., Ellis-Steinborner, Sarah, Venter, Deon J., Newman, Beth, Southey, Melissa C. and Chenevix-Trench, Georgia (2002). The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years. Cancer Epidemiology Biomarkers & Prevention, 11 (4), 413-416. |
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2002 Journal Article Dominant negative ATM mutations in breast cancer familiesChenevix-Trench, Georgia, Spurdle, Amanda B., Gatei, Magtouf, Kelly, Helena, Marsh, Anna, Chen, Xiaoqing, Donn, Karen, Cummings, Margaret C., Nyholt, Dale, Jenkins, Mark A., Scott, Clare, Pupo, Gulietta M., Dork, Thilo, Bendix, Regina, Kirk, Judy, Tucker, Katherine, McCredie, Margaret R. E., Hopper, John L., Sambrook, Joseph, Mann, Graham J. and Khanna, Kum Kum (2002). Dominant negative ATM mutations in breast cancer families. Journal of the National Cancer Institute, 94 (3), 205-215. doi: 10.1093/jnci/94.3.205 |
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2002 Journal Article No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancerSpurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, McCredie, Margaret R. E., Giles, Graham G., Newmann, Beth, Chenevix-Trench, Georgia and Khanna, KumKum (2002). No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. Breast Cancer Research, 4 (6) R15, R15/1-R15/6. doi: 10.1186/bcr534 |
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2002 Journal Article The progesterone receptor exon 4 Va1660Leu G/T polymorphism and risk of breast cancer in Australian womenSpurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, McCredie, Margaret R. E., Giles, Graham G., Venter, Deon J., Southey, Melissa C. and Chenevix-Trench, Georgia (2002). The progesterone receptor exon 4 Va1660Leu G/T polymorphism and risk of breast cancer in Australian women. Cancer Epidemiology Biomarkers & Prevention, 11 (5), 439-443. |
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2001 Journal Article The steroid 5α-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian womenSpurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, Dite, Gillian S., McCredie, Margaret R. E., Giles, Graham G., Venter, Deon J., Southey, Melissa C., Purdie, David M. and Chenevix-Trench, Georgia (2001). The steroid 5α-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women. Cancer Epidemiology, Biomarkers and Prevention, 10 (12), 1287-1293. |
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2001 Journal Article No significant association between progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of ovarian cancerSpurdle, Amanda B., Webb, Penelope M., Purdie, David M., Chen, Xiaoqing, Green, Adele and Chenevix-Trench, Georgia (2001). No significant association between progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of ovarian cancer. Carcinogenesis, 22 (5), 717-721. doi: 10.1093/carcin/22.5.717 |
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2001 Journal Article Polymorphisms at the glutathione S-transferase GSTM1, GSTT1 and GSTP1 loci: risk of ovarian cancer by histological subtypeSpurdle, Amanda B., Webb, Penelope M., Purdie, David M., Chen, Xiaoqing, Green, Adele and Chenevix-Trench, Georgia (2001). Polymorphisms at the glutathione S-transferase GSTM1, GSTT1 and GSTP1 loci: risk of ovarian cancer by histological subtype. Carcinogenesis, 22 (1), 67-72. doi: 10.1093/carcin/22.1.67 |
