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2012 Journal Article Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target siteBrewster, Brooke L., Rossiello, Francesca, French, Juliet D., Edwards, Stacey L., Wong, Ming, Wronski, Ania, Whiley, Phillip, Waddell, Nic, Chen, Xiaowei, Bove, Betsy, kConFab, Hopper, John L., John, Esther M., Andrulis, Irene, Daly, Mary, Volorio, Sara, Bernard, Loris, Peissel, Bernard, Manoukian, Siranoush, Barile, Monica, Pizzamiglio, Sara, Verderio, Paolo, Spurdle, Amanda B., Radice, Paolo, Godwin, Andrew K., Southey, Melissa C., Brown, Melissa A. and Peterlongo, Paolo (2012). Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site. Human Mutation, 33 (12), 1665-1675. doi: 10.1002/humu.22159 |
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2012 Journal Article Expression and function of the protein tyrosine phosphatase receptor J (PTPRJ) in normal mammary epithelial cells and breast tumorsSmart, Chanel E., Askarian Amiri, Marjan E., Wronski, Ania, Dinger, Marcel E., Crawford, Joanna, Ovchinnikov, Dmitry A., Vargas, Ana Cristina, Reid, Lynne, Simpson, Peter T., Song, Sarah, Wiesner, Christiane, French, Juliet D., Dave, Richa K., da Silva, Leonard, Purdon, Amy, Andrew, Megan, Mattick, John S., Lakhani, Sunil R., Brown, Melissa A. and Kellie, Stuart (2012). Expression and function of the protein tyrosine phosphatase receptor J (PTPRJ) in normal mammary epithelial cells and breast tumors. PLoS One, 7 (7) e40742, e40742.1-e40742.13. doi: 10.1371/journal.pone.0040742 |
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2012 Journal Article Androgen receptor expression predicts breast cancer survival: The role of genetic and epigenetic eventsPeters, Kate M., Edwards, Stacey L., Nair, Shalima S., French, Juliet D., Bailey, Peter J., Salkield, Kathryn, Stein, Sandra, Wagner, Sarah, Francis, Glenn D., Clark, Susan J. and Brown, Melissa A. (2012). Androgen receptor expression predicts breast cancer survival: The role of genetic and epigenetic events. BMC Cancer, 12 (132) 132, 1-10. doi: 10.1186/1471-2407-12-132 |
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2012 Journal Article A guide for functional analysis of BRCA1 variants of uncertain significanceMillot, Gael A., Carvalho, Marcelo A., Caputo, Sandrine M., Vreeswijk, Maaike P. G., Brown, Melissa A., Webb, Michelle, Rouleau, Etienne, Hansen, Thomas v. O., Galli, Alvaro, Brand˜ao, Rita D., Blok, Marinus J., Velkova, Aneliya, Couch, Fergus J., Monteiro, Alvaro N. A. and ENIGMA (2012). A guide for functional analysis of BRCA1 variants of uncertain significance. Human Mutation, 33 (11), 1526-1537. doi: 10.1002/humu.22150 |
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2012 Conference Publication Cardiac transplantation for chemotherapy induced cardiomyopathy: Demographics and long term follow-upMcKenzie, S.C., Sharma, A., Chee, K.W., Platts, D., Javorskky, G. and Brown, M. (2012). Cardiac transplantation for chemotherapy induced cardiomyopathy: Demographics and long term follow-up. 32nd Annual Meeting and Scientific Sessions of the International Society for Heart and Lung Transplantation/Meeting of the ISHLT Academy Core Competencies in Mechanical Circulatory Support, Prague, Czech Republic, 17-21 April 2012. NEW YORK: ELSEVIER SCIENCE INC. doi: 10.1016/j.healun.2012.01.448 |
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2012 Journal Article Mapping the regulatory sequences controlling 93 breast cancer-associated miRNA genes leads to the identification of two functional promoters of the Hsa-mir-200b cluster, methylation of which is associated with metastasis or hormone receptor status in advaWee, E.J.H., Peters, K., Nair, S.S., Hulf, T., Stein, S., Wagner, S., Bailey, P., Lee, S.Y., Qu, W.J., Brewster, B., French, J.D., Dobrovic, A., Francis, G.D., Clark, S.J. and Brown, M.A. (2012). Mapping the regulatory sequences controlling 93 breast cancer-associated miRNA genes leads to the identification of two functional promoters of the Hsa-mir-200b cluster, methylation of which is associated with metastasis or hormone receptor status in adva. Oncogene, 31 (38), 4182-4195. doi: 10.1038/onc.2011.584 |
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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 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 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 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 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 |
