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2008 Journal Article The RAD51D E233G variant and breast cancer risk: population-based and clinic based family studies of Australian womenDowty, J. G., Lose, F., Jenkins, M. A., Chang, J. H., Chen, X. Q., Beesley, J., Dite, G. S., Southey, M. C., Byrnes, G. B., Tesoriero, A., Giles, G. G., ConFab Investigators, Australian Breast Cancer Family Study, Hooper, J. L. and Spurdle, A. B. (2008). The RAD51D E233G variant and breast cancer risk: population-based and clinic based family studies of Australian women. Breast Cancer Research and Treatment, 112 (1), 35-39. doi: 10.1007/s10549-007-9832-0 |
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2008 Journal Article Skewed X chromosome inactivation and breast and ovarian cancer status: Evidence for X-linked modifiers of BRCA1Lose, Felicity, Duffy, David L., Kay, Graham F., Cuningham, Kathleen, Kedda, Mary A. and Spurdle, Amanda B. (2008). Skewed X chromosome inactivation and breast and ovarian cancer status: Evidence for X-linked modifiers of BRCA1. Journal of the National Cancer Institute, 100 (21), 1519-1529. doi: 10.1093/jnci/djn345 |
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2008 Journal Article Lynch syndrome in women less than 50 years of age with endometrial cancerWalsh, Michael D., Young, Joanne, Spurdle, Amanda and Obermair, Andreas (2008). Lynch syndrome in women less than 50 years of age with endometrial cancer. Obstetrics and Gynecology, 112 (4), 943-943. doi: 10.1097/AOG.0b013e3181893013 |
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2008 Journal Article ABCB1 (MDR 1) polymorphisms and progression-free survival among women with ovarian cancer following paclitaxel/carboplatin chemotherapyJohnatty, Sharon E., Beesley, Jonathan, Paul, Jim, Fereday, Sian, Spurdle, Amanda B., Webb, Penelope M., Byth, Karen, Marsh, Sharon, McLeod, Howard, Harnett, Paul R., Brown, Robert, Defazio, Anna and Chenevix-Trench, Georgia (2008). ABCB1 (MDR 1) polymorphisms and progression-free survival among women with ovarian cancer following paclitaxel/carboplatin chemotherapy. Clinical Cancer Research, 14 (17), 5594-5601. doi: 10.1158/1078-0432.CCR-08-0606 |
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2008 Journal Article Multiple novel prostate cancer predisposition loci confirmed by an international study: The PRACTICAL consortiumKote-Jarai, Zsofia, Easton, Douglas F., Stanford, Janet L., Ostrander, Elaine A., Schleutker, Johanna, Ingles, Sue A., Schaid, Daniel, Thibodeau, Stephen, Dork, Thilo, Neal, David, Cox, Angela, Maier, Christiane, Vogel, Walter, Guy, Michelle, Muir, Kenneth, Lophatananon, Artitaya, Kedda, Mary-Anne, Spurdle, Amanda, Steginga, Suzanne, John, Esther M., Giles, Graham, Hopper, John, Chappuis, Pierre O., Hutter, Pierre, Foulkes, William D., Hamel, Nancy, Salinas, Claudia A., Koopmeiners, Joseph S., Karyadi, Danielle M. ... Eeles, Rosalind A. (2008). Multiple novel prostate cancer predisposition loci confirmed by an international study: The PRACTICAL consortium. Cancer Epidemiology Biomarkers and Prevention, 17 (8), 2052-2061. doi: 10.1158/1055-9965.EPI-08-0317 |
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2008 Journal Article Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variantsPettigrew, Christopher A., Wayte, Nicola, Wronski, Ania, Lovelock, Paul K., Spurdle, Amanda B. and Brown, Melissa A. (2008). Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants. Breast Cancer Research and Treatment, 110 (2), 227-234. doi: 10.1007/s10549-007-9714-5 |
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2008 Journal Article BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expressionWaddell, N, Ten Haaf, A, Marsh, A, Johnson, J, Walker, LC, Gongora, M, Brown, M, Grover, P, Girolami, M, Grimmond, S, Chenevix-Trench, G, Spurdle, AB and kConFab Investigators (2008). BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. PLoS Genetics, 4 (5) e1000080, Article Number: e1000080. doi: 10.1371/journal.pgen.1000080 |
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2008 Journal Article Association of a common AKAP9 variant with breast cancer risk: A collaborative analysisFrank, Bernd, Wiestler, Miriam, Kropp, Silke, Hemminki, Kari, Spurdle, Amanda B., Sutter, Christian, Wappenschmidt, Barbara, Chen, Xiaoqing, Beesley, Jonathan, Hopper, John L., Meindl, Alfons, Kiechle, Marion, Slanger, Tracy, Bugert, Peter, Schmutzler, Rita K., Bartram, Claus R., Flesch-Janys, Dieter, Mutschelknauss, Elke, Ashton, Katie, Salazar, Ramona, Webb, Emily, Hamann, Ute, Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, Bruening, Thomas, Silva, Isabel dos Santos, Johnson, Nichola, Pharoah, Paul P. D. ... Burwinkel, Barbara (2008). Association of a common AKAP9 variant with breast cancer risk: A collaborative analysis. Journal of the National Cancer Institute, 100 (6), 437-442. doi: 10.1093/jnci/djn037 |
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2008 Journal Article Molecular, pathologic, and clinical features of early-onset endometrial cancer: Identifying presumptive Lynch Syndrome patientsWalsh, M. D., Cummings, M. C., Buchanan, D. D., Dambacher, W. M., Arnold, S., McKeone, D., Byrnes, R., Barker, M. A., Leggett, B. A., Gattas, M., Jass, J. R., Spurdle, A. B., Young, J. and Obermair, A. (2008). Molecular, pathologic, and clinical features of early-onset endometrial cancer: Identifying presumptive Lynch Syndrome patients. Clinical Cancer Research, 14 (6), 1692-1700. doi: 10.1158/1078-0432.CCR-07-1849 |
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2008 Journal Article Clinical classification of BRCA1 and BRCA2 DNA sequence variants: The value of cytokeratin profiles and evolutionary analysis - A report from the kConFab InvestigatorsSpurdle, A.B., Lakhani, S.R., Healey, S., Parry, S., Da Silva, L. M., Brinkworth, R.I., Hopper, J.L., Brown, M.A., Babikyan, D., Chenevix-Trench, G., Tavtigian, S.V. and Goldgar, D.E. (2008). Clinical classification of BRCA1 and BRCA2 DNA sequence variants: The value of cytokeratin profiles and evolutionary analysis - A report from the kConFab Investigators. Journal of Clinical Oncology, 26 (10), 1657-1663. doi: 10.1200/JCO.2007.13.2779 |
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2007 Journal Article RAD51 135G->C modifies breast cancer risk among BRCA2 mutation carriers: Results from a combined analysis of 19 studiesAntoniou, Antonis C., Sinilnikova, Olga M., Simard, Jacques, Léoné, Mélanie, Dumont, Martine, Neuhausen, Susan L., Struewing, Jeffery P., Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Hughes, David J., Coupier, Isabelle, Belotti, Muriel, Lasset, Christine, Bonadona, Valérie, Bignon, Yves-Jean, Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers Study (GEMO), Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Domchek, Susan M., Nathanson, Katherine L., Garber, Judy E., Weitzel, Jeffrey, Narod, Steven A., Tomlinson, Gail, Olopade, Olufunmilayo I., Godwin, Andrew, Isaacs, Claudine, Jakubowska, Anna ... Chenevix-Trench, Georgia (2007). RAD51 135G->C modifies breast cancer risk among BRCA2 mutation carriers: Results from a combined analysis of 19 studies. American Journal of Human Genetics, 81 (6), 1186-1200. doi: 10.1086/522611 |
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2007 Journal Article Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?Lovelock, Paul K., Spurdle, Amanda B., Mok, Myth T. S., Farrugia, Daniel J., Lakhani, Sunil R., Healey, Sue, Arnold, Stephen, Buchanan, Daniel, kConFab Investigators, Couch, Fergus J., Henderson, Berik R., Goldgar, David E., Tavtigian, Sean V., Chenevix-Trench, Georgia and Brown, Melissa A (2007). Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?. Breast Cancer Research, 9 (6: R82) R82, 1-13. doi: 10.1186/bcr1826 |
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2007 Journal Article Mutation analysis of five candidate genes in familial breast cancerMarsh, Anna, Healey, Sue, Lewis, Aaron, Spurdle, Amanda B., Kedda, Mary Anne, Khanna, Kum Kum, Mann, Graham J., Pupo, Gulietta M., Lakhani, Sunil R. and Chenevix-Trench, Georgia (2007). Mutation analysis of five candidate genes in familial breast cancer. Breast Cancer Research & Treatment, 105 (3), 377-389. doi: 10.1007/s10549-006-9461-z |
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2007 Journal Article Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variabilityLovelock, Paul K., Wong, Ee Ming, Sprung, Carl N., Marsh, Anna, Hobson, Karen, French, Juliet D., Southey, Melissa, kConFab Investigators, Sculley, Tom, Pandeya, Nirmala, Brown, Melissa A., Chenevix-Trench, Georgia, Spurdle, Amanda B. and McKay, Michael J. (2007). Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability. Breast Cancer Research and Treatment, 104 (3), 257-266. doi: 10.1007/s10549-006-9415-5 |
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2007 Journal Article Genome-wide association study identifies novel breast cancer susceptibility lociEaston, Douglas F., Pooley, Karen A., Dunning, Alison M., Pharoah, Paul D. P., Thompson, Deborah, Ballinger, Dennis G., Struewing, Jeffery P., Morrison, Jonathan, Field, Helen, Luben, Robert, Wareham, Nicholas, Ahmed, Shahana, Healey, Catherine S., Bowman, Richard, SEARCH collaborators, Meyer, Kerstin B., Haiman, Christopher A., Kolonel, Laurence K., Henderson, Brian E., Marchand, Loic Le, Brennan, Paul, Sangrajrang, Suleeporn, Gaborieau, Valerie, Odefrey, Fabrice, Shen, Chen-Yang, Wu, Pei-Ei, Wang, Hui-Chun, Eccles Diana, Evans, D. Gareth ... Ward, Robyn (2007). Genome-wide association study identifies novel breast cancer susceptibility loci. Nature, 447 (7148), 1087-1093. doi: 10.1038/nature05887 |
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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 PSA/KLK3 AREI promoter polymorphism alters androgen receptor binding and is associated with prostate cancer susceptibilityLai, John, Kedda, Mary-Anne, Hinze, Kimberley, Smith, Robert L. G., Yaxley, John, Spurdle, Amanda B., Morris, C. Phillip, Harris, Jonathan and Clements, Judith A. (2007). PSA/KLK3 AREI promoter polymorphism alters androgen receptor binding and is associated with prostate cancer susceptibility. Carcinogenesis, 28 (5), 1032-1039. doi: 10.1093/carcin/bgl236 |
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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 |
