|
2010 Journal Article Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk predictionAntoniou, Antonis C., Beesley, Jonathan, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Neuhausen, Susan L., Ding, Yuan Chun, Rebbeck, Timothy R., Weitzel, Jeffrey N., Lynch, Henry T., Isaacs, Claudine, Ganz, Patricia A., Tomlinson, Gail, Olopade, Olufunmilayo I., Couch, Fergus J., Wang, Xianshu, Lindor, Noralane M., Pankratz, Vernon S., Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, Dall'Olio, Valentina, Peterlongo, Paolo, Szabo, Csilla I., Zikan, Michal ... Easton, Douglas F. (2010). Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction. Cancer Research, 70 (23), 9742-9754. doi: 10.1158/0008-5472.CAN-10-1907 |
|
2010 Journal Article Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriersEngel, Christoph, Versmold, Beatrix, Wappenschmidt, Barbara, Simard, Jacques, Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Mayes, Rebecca, Evans, D. Gareth, Eeles, Rosalind, Paterson, Joan, Brewer, Carole, McGuffog, Lesley, Antoniou, Antonis C., Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Barjhoux, Laure, Frenay, Marc, Michel, Cecile, Leroux, Dominique, Dreyfus, Helene, Toulas, Christine, Gladieff, Laurence, Uhrhammer, Nancy, Bignon, Yves-Jean, Meindl, Alfons, Arnold, Norbert ... Schmutzler, Rita K. (2010). Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology, Biomarkers & Prevention, 19 (11), 2859-2868. doi: 10.1158/1055-9965.EPI-10-0517 |
|
2010 Journal Article Common genetic variants and modification of penetrance of BRCA2-associated breast cancerMia M. Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M. Korn, Candace Guiducci, Ayellet V. Segre, Kate McGee, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Sylvie Mazoyer, Marion Gauthier-Villars, Hagay Sobol, Michel Longy, Marc Frenay, GEMO Study Collaborators, Frans B. L. Hogervorst, Matti a. Rookus, J. Margriet Collee, Nicoline Hoogerbrugge, Kees E. P. van Roozendaal, HEBON Study Collaborators, Marion Piedmonte, Wendy Rubinstein, Stacy Nerenstone ... Lakhani, Sunil (2010). Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genetics, 6 (10), e1001183-1-e1001183-12. doi: 10.1371/journal.pgen.1001183 |
|
2010 Journal Article A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general populationAntoniou, Antonis C., Wang, Xianshu, Fredericksen, Zachary S., McGuffog, Lesley, Tarrell, Robert, Sinilnikova, Olga M., Healey, Sue, Morrison, Jonathan, Kartsonaki,Christiana, Lesnick, Timothy, Ghoussaini, Maya, Barrowdale, Daniel, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Eccles, Diana, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Chu, Carol, Douglas, Fiona, Paterson, Joan, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Mazoyer, Sylvie, Giraud, Sophie, Lasset, Christine, Remenieras, Audrey ... Lakhani, Sunil (2010). A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population. Nature Genetics, 42 (10), 885-892. doi: 10.1038/ng.669 |
|
2010 Journal Article Missense variants in ATM in 26,101 breast cancer cases and 29,842 controlsFletcher, Olivia, Johnson, Nichola, Silva, Isabel dos Santos, Orr, Nick, Ashworth, Alan, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomaki, Kristiina, Blomqvist, Carl, Burwinkel, Barbara, Bartram, Claus R., Meindl, Alfons, Schmutzler, Rita K., Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W. R., Southey, Melissa C., Smith, Letitia, Spurdle, Amanda B., Hopper, John L., Couch, Fergus J., Olson, Janet E., Wang, Xianshu, Fredericksen, Zachary, Schurmann, Peter, Waltes, Regina, Bremer Michael, Dork,Thilo ... Peto, Julian (2010). Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls. Cancer Epidemiology, Biomarkers and Prevention, 19 (9), 2143-2151. doi: 10.1158/1055-9965.EPI-10-0374 |
|
2010 Journal Article Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriersWang, Xianshu, Pankratz, V. Shane, Fredericksen, Zachary, Tarrell, Robert, Karaus, Mary, McGuffog, Lesley, Pharaoh, Paul D.P., Ponder, Bruce A.J., Dunning, Alison M., Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, EMBRACE, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Houdayer, Claude, GEMO, Hogervorst, Frans B.L., Hooning, Maartje J., Ligtenberg, Marjolijn J., HEBON, Spurdle, Amanda, Chenevix-Trench, Georgia, kConFab, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph ... Lakhani, Sunil (2010). Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 19 (14), 2886-2897. doi: 10.1093/hmg/ddq174 |
|
2010 Journal Article Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "Hot-Spot"Johnatty, Sharon E., Beesley, Jonathan, Chen, Xiaoqing, Macgregor, Stuart, Duffy, David L., Spurdle, Amanda B., deFazio, Anna, Gava, Natalie, Webb, Penelope M., Australian Ovarian Cancer Study Group, Australian Cancer Study (Ovarian Cancer), Rossing, Mary Anne, Doherty, Jennifer Anne, Goodman, Marc T., Lurie, Galina, Thompson, Pamela J., Wilkens, Lynne R., Ness, Roberta B., Moysich, Kirsten B., Chang-Claude, Jenny, Wang-Gohrke, Shan, Cramer, Daniel W., Terry, Kathryn L., Hankinson, Susan E., Tworoger, Shelley S., Garcia-Closas, Montserrat, Yang, Hannah, Lissowska, Jolanta, Chanock, Stephen J. ... Ovarian Cancer Association Consortium (2010). Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "Hot-Spot". PLoS Genetics, 6 (7) e1001016, e1001016-1-e1001016-10. doi: 10.1371/journal.pgen.1001016 |
|
2010 Journal Article Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of PathogenicityWalker, Logan C., Whiley, Phillip J., Couch, Fergus J., Farrugia, Daniel J., Healey, Sue, Eccles, Diana M., Lin, Feng, Butler, Samantha A., Goff, Sheila A., Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A. and Spurdle, Amanda B. (2010). Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity. Human Mutation, 31 (6), E1484-E1505. doi: 10.1002/humu.21267 |
|
2010 Journal Article Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcriptsWhiley, Phillip J., Pettigrew, Christopher A., Brewster, Brooke L., Walker, Logan C., Spurdle, Amanda B. and Brown, Melissa A. (2010). Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts. BMC Medical Genetics, 11 (1) 80, 80-1-80-5. doi: 10.1186/1471-2350-11-80 |
|
2010 Journal Article A BRCA1 promoter variant (rs11655505) and breast cancer riskVerderio, Paolo, Pizzamiglio, Sara, Southey, Melissa C., Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, Beesley, Jonathan, Australian Ovarian Cancer Study Group, kConFab, Schmutzler, Rita K., Engel, Christoph, Burwinkel, Barbara, Bugert, Peter, Ficarazzi, Filomena, Manoukian, Siranoush, Barile, Monica, Wappenschmidt, Barbara, Chenevix-Trench, Georgia, Radice, Paolo and Peterlongo, Paolo (2010). A BRCA1 promoter variant (rs11655505) and breast cancer risk. Journal of Medical Genetics, 47 (4), 268-270. doi: 10.1136/jmg.2009.073544 |
|
2010 Journal Article Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registryWalsh, MD, Buchanan, DD, Cummings, MC, Pearson, SA, Arnold, ST, Clendenning, M, Walters, R, McKeone, DM, Spurdle, AB, Hopper, JL, Jenkins, MA, Phillips, KD, Suthers, GK, George, J, Goldblatt, J, Muir, A, Tucker, K, Pelzer, E, Gattas, MR, Woodall, S, Parry, S, Macrae, FA, Haile, RW, Baron, JA, Potter, JD, Le Marchand, L, Bapat, B, Thibodeau, SN, Lindor, NM ... Young, JP (2010). Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry. Clinical Cancer Research, 16 (7), 2214-2224. doi: 10.1158/1078-0432.CCR-09-3058 |
|
2010 Journal Article Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patientsWalker, LC, Thompson, BA, Waddell, N, Grimmond, SM, Spurdle, AB and KConFab Investigators (2010). Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients. PLoS Genetics, 6 (2) e1000850, e1000850-1-e1000850-9. doi: 10.1371/journal.pgen.1000850 |
|
2010 Journal Article Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control studyMilne, Roger L., Gaudet, Mia M., Spurdle, Amanda B., Fasching, Peter A., Couch, Fergus J., Benitez, Javier, Arias Perez, Jose Ignacio, Zamora, M. Pilar, Malats, Nuria, dos Santos Silva, Isabel, Gibson, Lorna J., Fletcher, Olivia, Johnson, Nichola, Anton-Culver, Hoda, Ziogas, Argyrios, Figueroa, Jonine, Brinton, Louise, Sherman, Mark E., Lissowska, Jolanta, Hopper, John L., Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Sigurdson, Alice J., Linet, Martha S., Schonfeld, Sara J., Freedman, D. Michal, Mannermaa, Arto, Kosma, Veli-Matti ... Lakhani, Sunil (2010). Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study. Breast Cancer Research, 12 (6) R110, R110.1-R110.11. doi: 10.1186/bcr2797 |
|
2010 Journal Article Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriersWalker, Logan C., Fredericksen, Zachary S., Wang, Xianshu, Tarrell, Robert, Pankratz, Vernon S., Lindor, Noralane M., Beesley, Jonathan, Healey, Sue, Chen, Xiaoqing, kConFab, Stoppa-Lyonnet, Dominique, Tirapo, Carole, Mazoyer, Sylvie, Giraud, Sophie, Frickeer, Jean-Pierre, Muller, Daniele, Delnatte, Capucine, GEMO Study Collaborators, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Schonbuchner, Ines, Deissler, Helmut, Meindl, Alfons, Hogervorst, Frans B., Verheus, Martijn, Hooning, Maartje J., van den Ouweland, Ans M. W., Nelen, Marcel R. ... Couch, Fergus J. (2010). Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers. Breast Cancer Research, 12 (6) R102, R1020-1-R102-10. doi: 10.1186/bcr2785 |
|
2010 Journal Article Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1Pettigrew, C. A., French, J. D., Saunus, J. M., Edwards, S. L., Sauer, A. V., Smart, C. E., Lundstrom, H. T., Wiesner, C., Spurdle, A. B., Rothnagel, J. A. and Brown, M. A. (2010). Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1. Breast Cancer Research and Treatment, 119 (1), 239-247. doi: 10.1007/s10549-008-0256-2 |
|
2009 Journal Article Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)G Chenevix-Trench and Spurdle, Amanda B. (2009). Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). British Journal of Cancer Management, 101 (12), 2048-2054. doi: 10.1038/sj.bjc.6605416 |
|
2009 Journal Article Identification of seven new prostate cancer susceptibility loci through a genome-wide association studyEeles, R. A., Kote-Jarai, Z., Al Olama, A. A., Giles, G. G., Guy, M., Severi, G., Muir, K., Hopper, J. L., Henderson, B. E., Haiman, C. A., Schleutker, J., Hamdy, F. C., Neal, D. E., Donovan, J. L., Stanford, J. L., Ostrander, E. A., Ingles, S. A., John, E. M., Thibodeau, S. N., Schaid, D., Park, J. Y., Spurdle, A., Clements, J., Dickinson, J. L., Maier, C., Vogel, W., Dork, T., Rebbeck, T. R., Cooney, K. A. ... Easton, D. F. (2009). Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nature Genetics, 41 (10), 1116-1121. doi: 10.1038/ng.450 |
|
2009 Journal Article No evidence that GATA3 rs570613 SNP modifies breast cancer riskSpurdle, Amanda B. and Georgia Chenevix-Trench (2009). No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Breast Cancer Research and Treatment, 117 (2), 371-379. doi: 10.1007/s10549-008-0257-1 |
|
2009 Journal Article The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersSpurdle, Amanda B. and G Chenevix-Trench (2009). The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. British Journal of Cancer, 101 (8), 1456-1460. doi: 10.1038/sj.bjc.6605279 |
|
2009 Journal Article Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriersSpurdle, Amanda B. and Georgia Chenevix-Trench (2009). Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics, 18 (22), 4442-4456. doi: 10.1093/hmg/ddp372 |
