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Bolton, Kelly L., Chenevix-Trench, Georgia, Goh, Cindy, Sadetzki, Siegal, Ramus, Susan J., Karlan, Beth Y., Lambrechts, Diether, Despierre, Evelyn, Barrowdale, Daniel, McGuffog, Lesley, Healey, Sue, Easton, Douglas F., Sinilnikova, Olga, Benitez, Javier, Garcia, María J., Neuhausen, Susan, Gail, Mitchell H., Hartge, Patricia, Peock, Susan, Frost, Debra, Evans, Gareth, Eeles, Rosalind, Godwin, Andrew K., Daly, Mary B., Kwong, Ava, Ma, Edmond S. K., Lazaro, Conxi, Blanco, Ignacio, Montagna, Marco, D'Andrea, Emma, Nicoletto, Maria Ornella, Johnatty, Sharon E., Kruger, Susanne, Jensen, Allan, Hogdall, Estrid, Goode, Ellen L., Fridley, Brooke L., Loud, Jennifer T., Greene, Mark H., Mai, Phuong L., Chetrit, Angela, Lubin, Flora, Hirsh-Yechezkel, Galit, Glendon, Gord, Andrulis, Irene L., Toland, Amanda E., Senter, Leigha, Gore, Martin E., Gourley, Charlie, Michie, Caroline O., Song, Honglin, Tyrer, Jonathan, Whittemore, Alice S., McGuire, Valerie, Sieh, Weiva, Kristoffersson, Ulf, Olsson, Håkan, Borg, Åke, Levine, Douglas A., Steele, Linda, Beattie, Mary S., Chan, Salina, Nussbaum, Robert L., Moysich, Kirsten B., Gross, Jenny, Cass, Ilana, Walsh, Christine, Li, Andrew J., Leuchter, Ronald, Gordon, Ora, Garcia-Closas, Montserrat, Gayther, Simon A., Chanock, Stephen J., Antoniou, Antonis C., Pharoah, Paul D. P., EMBRACE, kConFab Investigators and Cancer Genome Atlas Research Network (2012) Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. Jama-Journal of the American Medical Association, 307 4: 382-390. doi:10.1001/jama.2012.20 171   73 Cited 83 times in Scopus83 10
Spurdle, Amanda B., Lakhani, Sunil R., Da Silva, Leonard M., Balleine, Rosemary L., kConFab Investigators and Goldgar, David E. (2010) Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance.. Human Mutation, 31 2: E1141-E1145. doi:10.1002/humu.21181 93   6 Cited 6 times in Scopus6 0
Waddell, 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: Article Number: e1000080. doi:10.1371/journal.pgen.1000080 65   5 Cited 4 times in Scopus4 0
Waddell, Nic, Jonnalagadda, Jyoti, Marsh, Anna, Grist, Scott, Jenkins, Mark, Hobson, Karen, Taylor, Malcolm, Lindeman, Geoff J., Tavtigian, Sean V., Suthers, Graeme, Goldgar, David, Oefner, Peter J., kConFab Investigators, Taylor, Darrin, Grimmond, Sean, Khanna, Kum Kum and Chenevix-Trench, Georgia (2006) Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. Genes Chromosomes and Cancer, 45 12: 1169-1181. doi:10.1002/gcc.20381 107   7 Cited 5 times in Scopus5 0
Flanagan, James M., Cocciardi, Sibylle, Waddell, Nic, Johnstone, Cameron N., Marsh, Anna, Henderson, Stephen, Simpson, Peter, da Silva, Leonard, kConFab Investigators, Khanna, Kumkum, Lakhani, Sunil, Boshoff, Chris, Chenevix-Trench, Georgia, Brown, Melissa, Cummings, Margaret and Edwards, Stacey (2010) DNA methylome of familial breast cancer identifies distinct profiles defined by mutation status. American Journal of Human Genetics, 86 3: 420-433. doi:10.1016/j.ajhg.2010.02.008 139 7 35 Cited 42 times in Scopus42 0
Stevens, K.N., Garcia-Closas, M., Fredericksen, Z., Kosel, M., Pankratz, V.S., Hopper, J.L., Dite, G.S., Apicella, C., Southey, M.C., Schmidt, M.K., Broeks, A., Van 't Veer, L.J., Tollenaar, R.A.E.M., Fasching, P.A., Beckmann, M.W., Hein, A., Ekici, A.B., Johnson, N., Peto, J., dos Santos Silva, I., Gibson, L., Sawyer, E., Tomlinson, I., Kerin, M.J., Chanock, S., Lissowska, J., Hunter, D.J., Hoover, R.N., Thomas, G.D., Milne, R.L., Pérez, J.A., González-Neira, A., Benítez, J., Burwinkel, B., Meindl, A., Schmutzler, R.K., Bartrar, C.R., Hamann, U., Ko, Y.D., Brüning, T., Chang-Claude, J., Hein, R., Wang-Gohrke, S., Dörk, T., Schürmann, P., Bremer, M., Hillemanns, P., Bogdanova, N., Zalutsky, J.V., Rogov, Y.I., Antonenkova, N., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V.-M., Hartikainen, J., Chenevix-Trench, G., Chen, X., Peterlongo, P., Bonanni, B., Bernard, L., Manoukian, S., Wang, X., Cerhan, J., Vachon, C.M., Olson, J., Giles, G.G., Baglietto, L., McLean, C.A., Severi, G., John, E.M., Miron, A., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Andrulis, I., Knight, J.A., Glendon, G., Mulligan, A.M., Cox, A., Brock, I.W., Elliott, G., Cross, S.S., Pharoah, P.P., Dunning, A.M., Pooley, K.A., Humphreys, M.K., Wang, J., Kang, D., Yoo, K.-Y., Noh, D.-Y., Sangrajrang, S., Gabrieau, V., Brennan, P., McKay, J., Anton-Culver, H., Ziogas, A., Couch, F.J., Easton, D.F., the GENICA Network, kConFab Investigators and Australian Ovarian Cancer Study Group (2011) Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk. British Journal of Cancer, 105 12: 1934-1939. doi:10.1038/bjc.2011.448 60 1 1 Cited 1 times in Scopus1 0
Beesley, Jonathan, Pickett, Hilda A., Johnatty,Sharon E., Dunning, Alison M., Chen, Xiaoqing, Li, Jun, Michailidou, Kyriaki, Lu, Yi, Rider, David N., Palmieri, Rachel T., Stutz, Michael D., Lambrechts, Diether, Despierre, Evelyn, Lambrechts, Sandrina, Vergote, Ignace, Chang-Claude, Jenny, Nickels, Stefan, Vrieling, Alina, Flesch-Janys, Dieter, Wang-Gohrke, Shan, Eilber, Ursula, Bogdanova, Natalia, Antonenkova, Natalia, Runnebaum, Ingo B., Dörk, Thilo, Goodman, Marc T., Lurie, Galina, Wilkens, Lynne R., Matsuno, Rayna K., Kiemeney, Lambertus A., Aben, Katja K.H., Marees, Tamara, Massuger, Leon F. A. G., Fridley, Brooke L., Vierkant, Robert A., Bandera, Elisa V., Olson, Sara H., Orlow, Irene, Rodriguez-Rodriguez, Lorna, Cook, Linda S., Le, Nhu D., Brooks-Wilson, Angela, Kelemen, Linda E., Campbell, Ian, Gayther, Simon A., Ramus, Susan J., Gentry-Maharaj, Aleksandra, Menon, Usha, Ahmed, Shahana, Baynes, Caroline, Pharoah, Paul D., kConFab Investigators, Australian Ovarian Cancer Study Group, ABCTB Investigators, Muir, Kenneth, Lophatananon, Artitaya, Chaiwerawattana, Arkom, Wiangnon, Surapon, Macgregor, Stuart, Easton, Douglas F., Reddel, Roger R., Goode, Ellen L., Chenevix-Trench, Georgia and on behalf of the Ovarian Cancer Association Consortium (2011) Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. PLoS One, 6 9: e24987 .1-e24987 .6. doi:10.1371/journal.pone.0024987 77   11 Cited 11 times in Scopus11 1
Chenevix-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 213   102 Cited 102 times in Scopus102 0
Lovelock 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 48   23 Cited 22 times in Scopus22 0
Ramus, Susan J., Kartsonaki, Christiana, Gayther, Simon A., Pharoah, Paul D. P., Sinilnikova, Olga M., Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, OCGN, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A., Cruger, Dorthe, Jensen, Uffe Birk, Caligo, Maria Adelaide, Olsson, Hakan, Kristoffersson, Ulf, Lindblom, Annika, Arver, Brita, Karlsson, Per, Askmalm, Marie Stenmark, Borg, Ake, Neuhausen, Susan L., Ding, Yuan Chun, Nathanson, Katherine L., Domchek, Susan M., Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Bohdan Gorski, Cybulski, Cezary, Debniak, Tadeusz, Osorio, Ana, Duran, Mercedes, Tejada, Maria-Isabel, Benitez, Javier, Hamann, Ute, Rookus, Matti A., Verhoef, Senno, Tilanus-Linthorst. Madeleine A., Vreeswijk, Maaike P., Bodmer, Daniel, Ausems, Margreet G. E. M., van Os, Theo A., Asperen, Christi J., Blok, Marinus J., Meijers-Heijboer, Hanne E. J., HEBON, EMBRACE, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Dunning, Alison M., Evans, D. Gareth, Eeles, Ros, Pichert, Gabriella, Cole, Trevor, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J., Porteous, Mary, Kennedy, M. John, Rogers, Mark T., Side, Lucy E., Donaldson, Alan, Gregory, Helen, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Moncourtier, Virginie, Castera, Laurent, Mazoyer, Sylvie, Barjhoux, Laure, Bonadona, Valerie, Leroux, Dominique, Faivre, Laurence, Lidereau, Rosette, Nogues, Catherine, Bignon, Yves-Jean, Prieur, Fabienne, Collonge-Rame, Marie-Agnes, Venat-Bouvet, Laurence, Fert-Ferrer, Sandra, GEMO Study Collaborators, Miron, Alex, Buys, Saundra S., Hopper, John L., Daly, Mary B., John, Esther M., Terry, Mary Beth, Goldgar, David, BCFR, Hansen, Thomas V. O., Jonson, Lars, Ejlertsen, Bent, Agnarsson, Bjarni A., Offit, Kenneth, Kirchhoff, Tomas, Vijai, Joseph, Dutra-Clarke, Ana V. C., Przybylo, Jennifer A., Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny N., Janavicius, Ramunas, Blanco, Ignacio, Lazaro, Conxi, Moysich, Kirsten B., Karlan, Beth Y., Gross, Jenny, Beattie, Mary S., Schmutzler, Rita, Wappenschmidt, Barbara, Meindl, Alfons, Ruehl, Ina, Fiebig, Britta, Sutter, Christian, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Kast, Karin, Niederacher, Dieter, Gadzicki, Dorothea, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomaki, Kristiina, Simard, Jacques, Soucy, Penny, kConFab Investigators, Spurdle, Amanda B., Holland, Helene, Chenevix-Trench, Georgia, Easton, Douglas F., Antoniou, Antonis C., on behalf of Consortium of Investigators of Modifiers of BRCA1/2, Brown, Melissa, Cummings, Margaret and Lakhani, Sunil (2011) Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Journal of the National Cancer Institiute, 103 2: 105-116. doi:10.1093/jnci/djq494 410 2 15 Cited 18 times in Scopus18 0
Amin, N., Byrne, E., Johnson, J., Chenevix-Trench, G., Walter, S., Nolte, I. M., kConFab Investigators, Vink, J.M., Rawal, R., Mangino, M., Teumer, A., Keers, J. C., Verwoert, G., Baumeister, S., Biffar, R., Petersmann, A., Dahmen, N., Doering, A., Isaacs, A., Broer, L., Wray, N. R., Montgomery, G. W., Levy, D., Psaty, B. M., Gudnason, V., Chakravarti, A., Sulem, P., Gudbjartsson, D. F., Kiemeney, L. A., Thorsteinsdottir, U., Stefansson, K., van Rooij, F. J. A., Aulchenko, Y. S., Hottenga, J. J., Rivadeneira, F. R., Hofman, A., Uitterlinden, A. G., Hammond, C. J., Shin, S- Y., Ikram, A., Witteman, J. C. M., Janssens, A. C. J. W., Snieder, H., Tiemeier, H., Wolfenbuttel, B. H. R., Oostra, B. A., Heath, A. C., Wichmann, E., Spector, T. D., Grabe, H. ., Boomsma, D. I., Martin, N. G. and van Duijn, C. M. (2011) Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. Molecular Psychiatry, 17 11: 1116-1129. doi:10.1038/mp.2011.101 94 2 Cited 14 times in Scopus14 31
Walker, Logan C., Krause, Lutz, kConFab Investigators, Spurdle, Amanda B. and Waddell, Nic (2012) Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours. Breast Cancer Research and Treatment, 134 3: 1005-1011. doi:10.1007/s10549-012-2024-6 58   3 Cited 4 times in Scopus4 0
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: 1-13. doi:10.1186/bcr1826 109   28 Cited 24 times in Scopus24 0
Wardrop, Stacey L., Brown, Melissa A. and kConFab Investigators (2005) Identification of two evolutionarily conserved and functional regulatory elements in intron 2 of the human BRCA1 gene. Genomics, 86 3: 316-328. doi:10.1016/j.ygeno.2005.05.006 63   20 Cited 18 times in Scopus18 0
Jekimovs, 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 53   24 Cited 23 times in Scopus23 0
Lovelock, 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/s10549-006-9415-5 150   5 Cited 4 times in Scopus4 0
Whiley, Phillip J., Guidugli, Lucia, Walker, Logan C., Healey, Sue, Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., kConFab Investigators, Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A., Couch, Fergus J. and Spurdle, Amanda B. (2011) Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Human Mutation, 32 6: 678-687. doi:10.1002/humu.21495 88   16 Cited 16 times in Scopus16 0
Waddell, N, Arnold, J, Cocciardi, S, da Silva, L, Marsh, A, Riley, J, Johnstone, CN, Orloff, M, Assie, G, Eng, C, Reid, L, Keith, P, Yan, M, Fox, S, Devilee, P, Godwin, AK, Hogervorst, FBL, Couch, F, Grimmond, S, Flanagan, JM, Khanna, K, Simpson, PT, Lakhani, SR, Chenevix-Trench, G and kConFab Investigators (2010) Subtypes of familial breast tumours revealed by expression and copy number profiling. Breast Cancer Research And Treatment, 123 3: 661-677. doi:10.1007/s10549-009-0653-1 111   32 Cited 36 times in Scopus36 0
Johnson, Julie K., Waddell, Nic, kConFab Investigators and Chenevix-Trench, Georgia (2012) The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes. BMC Cancer, 12 246: 246.1-246.12. doi:10.1186/1471-2407-12-246 65   Cited 0 times in Scopus0 1
Thompson, 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 119   Cited 27 times in Scopus27 0
Walker, Logan C., Waddell, Nic, Ten Haaf, Anette, kConFab Investigators, Grimmond, Sean and Spurdle, Amanda B. (2008) Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers. Breast Cancer Research and Treatment, 112 2: 229-236. doi:10.1007/s10549-007-9848-5 29   6 Cited 3 times in Scopus3 0