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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 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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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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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 |
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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 |
