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2011 Journal Article p53-Dependent BRCA1 nuclear export controls cellular susceptibility to DNA damageJiang, Juhong, Yang, Eddy S., Jiang, Guochun, Nowsheen, Somaira, Wang, Hong, Wang, Tong, Wang, Yihan, Billheimer, Dean, Chakravarthy, A. Bapsi, Brown, Melissa, Haffty, Bruce and Xia, Fen (2011). p53-Dependent BRCA1 nuclear export controls cellular susceptibility to DNA damage. Cancer Research, 71 (16), 5546-5557. doi: 10.1158/0008-5472.CAN-10-3423 |
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2011 Journal Article Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundaryWhiley, 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 |
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2011 Journal Article SNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancerAskarian-Amiri, Marjan E., Crawford, Joanna, French, Juliet D., Smart, Chanel E., Smith, Martin A., Clark, Michael B., Ru, Kelin, Mercer, Tim R., Thompson, Ella R., Lakhani, Sunil R., Vargas, Ana C., Campbell, Ian G., Brown, Melissa A., Dinger, Marcel E. and Mattick, John S. (2011). SNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancer. RNA, 17 (5), 878-891. doi: 10.1261/rna.2528811 |
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2011 Journal Article Analysis of brca1-deficient mouse mammary glands reveals reciprocal regulation of Brca1 and c-kitSmart, C.E., Wronski, A., French, J.D., Edwards, S.L., Asselin-Labat, M.L., Waddell, N., Peters, K., Brewster, B.L., Brooks, K., Simpson, K., Manning, N., Lakhani, S.R., Grimmond, S., Lindeman, G.J., Visvader, J.E. and Brown, M.A. (2011). Analysis of brca1-deficient mouse mammary glands reveals reciprocal regulation of Brca1 and c-kit. Oncogene, 30 (13), 1597-1607. doi: 10.1038/onc.2010.538 |
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2011 Journal Article ORAI1-mediated calcium influx in lactation and in breast cancerMcAndrew, Damara, Grice, Desma M., Peters, Amelia A., Davis, Felicity M., Stewart, Teneale, Rice, Michelle, Smart, Chanel E., Brown, Melissa A., Kenny, Paraic A., Roberts-Thomson, Sarah J. and Monteith, Gregory R. (2011). ORAI1-mediated calcium influx in lactation and in breast cancer. Molecular Cancer Therapeutics, 10 (3), 448-460. doi: 10.1158/1535-7163.MCT-10-0923 |
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2011 Journal Article Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriersRamus, 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 ... 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 |
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2011 Journal Article Constitutional methylation of the BRCA1 promoter Is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancerWong, Ee Ming, Southey, Melissa C., Fox, Stephen B., Brown, Melissa A., Dowty, James G., Jenkins, Mark A., Giles, Graham G., Hopper, John L. and Dobrovic, Alexander (2011). Constitutional methylation of the BRCA1 promoter Is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer. Cancer Prevention Research, 4 (1), 23-33. doi: 10.1158/1940-6207.CAPR-10-0212 |
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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 |
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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 |
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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 |
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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 |
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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 |
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2010 Journal Article DNA methylome of familial breast cancer identifies distinct profiles defined by mutation statusFlanagan, 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 |
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2010 Journal Article Frequent somatic mutations of GATA3 in non-BRCA1/BRCA2 familial breast tumors, but not in BRCA1-, BRCA2- or sporadic breast tumorsArnold, Jeremy M., Choong, David Y. H., Thompson, Ella R., kConFab, Waddell, Nic, Lindeman, Geoffrey J., Visvader, Jane E., Campbell, Ian G., Chenevix-Trench, Georgia, Brown, Melissa, Cummings, Margaret and Edwards, Stacey (2010). Frequent somatic mutations of GATA3 in non-BRCA1/BRCA2 familial breast tumors, but not in BRCA1-, BRCA2- or sporadic breast tumors. Breast Cancer Research And Treatment, 119 (2), 491-496. doi: 10.1007/s10549-008-0269-x |
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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 |
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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 |
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2009 Journal Article A novel synthetic adjuvant enhances dendritic cell functionPhillipps, Karen S. M., Wykes, Michelle N., Liu, Xue Q., Brown, Melissa, Blanchfield, Joanne T. and Toth, Istvan (2009). A novel synthetic adjuvant enhances dendritic cell function. Immunology, 128 (1), e582-e588. doi: 10.1111/j.1365-2567.2008.03038.x |
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2009 Journal Article Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriersLim, Elgene, Vaillant, Francois, Wu, Di, Forrest, Natalie C., Pal, Bhupinder, Hart, Adam H., Asselin-Labat, Marie-Liesse, Gyorki, David E., Ward, Teresa, Partanen, Audrey, Feleppa, Frank, Huschtscha, Lily I., Thorne, Heather J., kConFab, Fox, Stephen B., Yan, Max, French, Juliet D., Brown, Melissa A., Smyth, Gordon K., Visvader, Jane E. and Lindemann, G. J. (2009). Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers. Nature Medicine, 15 (8), 907-913. doi: 10.1038/nm.2000 |
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2009 Journal Article Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristicsArnold, Sven, Buchanan, Daniel D., Barker, Melissa, Jaskowski, Lesley, Walsh, Michael D., Birney, Genevieve, Woods, Michael O., Hopper, John L., Jenkins, Mark A., Brown, Melissa A., Tavtigian, Sean V., Goldgar, David E., Young, Joanne P. and Spurdle, Amanda B. (2009). Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Human Mutation, 30 (5), 757-770. doi: 10.1002/humu.20936 |
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2009 Journal Article Identification and characterization of a novel melanoma tumor suppressor gene on human chromosome 6q21Fung, Jackie Mei-Wah Fung, Smith, Ross, Brown, Melissa A., Lau, Sze Hang, Xie, Dan, Lau, George K. and Guan, Xin-Yuan (2009). Identification and characterization of a novel melanoma tumor suppressor gene on human chromosome 6q21. Clinical Cancer Research, 15 (3), 797-803. doi: 10.1158/1078-0432.CCR-08-1472 |
