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2016

Journal Article

The voltage gated Ca2+-channel Cav3.2 and therapeutic responses in breast cancer

Pera, Elena, Kaemmerer, Elke, Milevskiy, Michael J. G., Yapa, Kunsala T. D. S., O'Donnell, Jake S., Brown, Melissa A., Simpson, Fiona, Peters, Amelia A., Roberts-Thomson, Sarah J. and Monteith, Gregory R. (2016). The voltage gated Ca2+-channel Cav3.2 and therapeutic responses in breast cancer. Cancer Cell International, 16 (24) 24, 24. doi: 10.1186/s12935-016-0299-0

The voltage gated Ca2+-channel Cav3.2 and therapeutic responses in breast cancer

2015

Journal Article

No association between HPV positive breast cancer and expression of human papilloma viral transcripts

Gannon, Orla M., Antonsson, Annika, Milevskiy, Michael, Brown, Melissa A., Saunders, Nicholas A. and Bennett, Ian C. (2015). No association between HPV positive breast cancer and expression of human papilloma viral transcripts. Scientific Reports, 5 (18081) 18081, 18081. doi: 10.1038/srep18081

No association between HPV positive breast cancer and expression of human papilloma viral transcripts

2015

Journal Article

Methylome sequencing in triple negative breast cancer reveals distinct methylation clusters with prognostic value

Stirzaker, Clare, Zotenko, Elena, Song, Jenny Z., Qu, Wenja, Nair, Shalima, Locke, Warwick J., Stone, Andrew Stone, Armstrong, Nicola J., Robinson, Mark D., Dobrovic, Alexander, Avery-Kiejda, Kelly A., Peters, Kate M., French, Juliet D., Stein, Sandra, Korbie, Darren J., Trau, Matt, Forbes, John F., Scott, Rodney J., Brown, Melissa A., Francis, Glenn D. and Clark, Susan J. (2015). Methylome sequencing in triple negative breast cancer reveals distinct methylation clusters with prognostic value. Nature Communications, 6 (5899) 5899, 1-11. doi: 10.1038/ncomms6899

Methylome sequencing in triple negative breast cancer reveals distinct methylation clusters with prognostic value

2015

Journal Article

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

Glubb, Dylan, Maranian, Mel J., Michailidou, Kyriaki, Pooley, Karen A., Meyer, Kerstin, Kar, Siddhartha, Carlebur, Saskia, O'Reilly, Martin, Betts, Joshua A., Hillman, Kristine M., Kaufmann, Susanne, Beesley, Jonathan, Canisius, Sander, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Schmidt, Marjanka K., Broeks, Annegien, Hogervorst, Frans B., van der Schoot, C. Ellen, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter, Ruebner, Matthias, Ekici, Arif B., Beckmann, Matthias W. ... French, Juliet D. (2015). Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. American Journal of Human Genetics, 96 (1), 5-20. doi: 10.1016/j.ajhg.2014.11.009

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

2014

Journal Article

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Ghoussaini, Maya, Edwards, Stacey L., Michailidou, Kyriaki, Nord, Silje, Lari, Richard Cowper-Sal, Desai, Kinjal, Kar, Siddhartha, Hillman, Kristine M., Kaufmann, Susanne, Glubb, Dylan M., Beesley, Jonathan, Dennis, Joe, Bolla, Manjeet K., Wang, Qin, Dicks, Ed, Guo, Qi, Schmidt, Marjanka K., Shah, Mitul, Luben, Robert, Brown, Judith, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Klevebring, Daniel, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Lambrechts, Diether ... Dunning, Alison M. (2014). Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nature Communications, 5 (1) 4999, 4999.1-4999.12. doi: 10.1038/ncomms5999

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

2014

Journal Article

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Colombo, Mara, Blok, Marinus J., Whiley, Phillip, Santamarina, Marta, Gutierrez-Enriquez, Sara, Romero, Atocha, Garre, Pilar, Becker, Alexandra, Smith, Lindsay Denise, Vecchi, Giovanna De, Brandao, Rita D., Tserpelis, Demis, Brown, Melissa, Blanco, Ana, Bonache, Sandra, Menendez, Mireia, Houdayer, Claude, Foglia, Claudia, Fackenthal, James D., Baralle, Diana, Wappenschmidt, Barbara, Diaz-Rubio, Eduardo, Caldes, Trinidad, Walker, Logan, Diez, Orland, Vega, Ana, Spurdle, Amanda B., Radice, Paolo and de la Hoya, Miguel (2014). Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Human Molecular Genetics, 23 (14) ddu075, 3666-3680. doi: 10.1093/hmg/ddu075

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

2014

Journal Article

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

Whiley, Phillip J., De La Hoya, Miguel, Thomassen, Mads, Becker, Alexandra, Brandão, Rita, Sokilde Pedersen, Inge, Montagna, Marco, Menéndez, Mireia, Quiles, Francisco, Gutiérrez-Enríquez, Sara, De Leeneer, Kim, Tenés, Anna, Montalban, Gemma, Tserpelis, Demis, Yoshimatsu, Toshio, Tirapo, Carole, Raponi, Michela, Caldes, Trinidad, Blanco, Ana, Santamariña, Marta, Guidugli, Lucia, Ruiz de Garibay, Gorka, Wong, Ming, Tancredi, Mariella, Fachal, Laura, Chun Ding, Yuan, Kruse, Torben, Lattimore, Vanessa, Kwong, Ava ... Brown, Melissa A. (2014). Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing. Clinical Chemistry, 60 (2), 341-352. doi: 10.1373/clinchem.2013.210658

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

2014

Journal Article

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation

Whiley, Phillip J., Parsons, Michael T., Leary, Jennifer, Tucker, Kathy, Warwick, Linda, Dopita, Belinda, Thorne, Heather, Lakhani, Sunil R., Goldgar, David E., Brown, Melissa A. and Spurdle, Amanda B. (2014). Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. PloS One, 9 (1) e86836, 1-10. doi: 10.1371/journal.pone.0086836

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation

2013

Journal Article

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

French, Juliet D., Ghoussaini, Maya, Edwards, Stacey L., Meyer, Kerstin B., Michailidou, Kyriaki, Ahmed, Shahana, Khan, Sofia, Maranian, Mel J., O'Reilly, Martin, Hillman, Kristine M., Betts, Joshua A., Carro, Thomas, Bailey, Peter J., Dicks, Ed, Beesley, Jonathan, Tyrer, Jonathan, Maia, Ana-Teresa, Beck, Andrew, Knoblauch, Nicholas W., Chen, Constance, Kraft, Peter, Barnes, Daniel, Gonzalez-Neira, Anna, Rosario Alonso, M., Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig ... Dunning, Alison M. (2013). Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. American Journal of Human Genetics, 92 (4), 489-503. doi: 10.1016/j.ajhg.2013.01.002

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

2013

Journal Article

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

Parsons, Michael T., Whiley, Phillip J., Beesley, Jonathan, Drost, Mark, de Wind, Neils, Thompson, Bryony A., Marquart, Lousie, Hopper, John L., Jenkins, Mark A., Brown, Melissa A., Tucker, Kathy, Warwick, Linda, Buchanan, Daniel D., Spurdle, Amanda B. and Australasian Colorectal Cancer Family Registry (2013). Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity. Molecular Carcinogenesis, 54 (7), 513-522. doi: 10.1002/mc.22116

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

2012

Journal Article

eLCR: electrochemical detection of single DNA base changes via ligase chain reaction

Wee, Eugene J. H., Shiddiky, Muhammad J. A., Brown, Melissa A. and Trau, Matt (2012). eLCR: electrochemical detection of single DNA base changes via ligase chain reaction. Chemical Communications, 48 (98), 1214-1216. doi: 10.1039/C2CC35841G

eLCR: electrochemical detection of single DNA base changes via ligase chain reaction

2012

Journal Article

Long-range transcriptional regulation of breast cancer genes

Betts, Joshua A., French, Juliet D., Brown, Melissa A. and Edwards, Stacey L. (2012). Long-range transcriptional regulation of breast cancer genes. Genes, Chromosomes and Cancer, 52 (2), 113-125. doi: 10.1002/gcc.22020

Long-range transcriptional regulation of breast cancer genes

2012

Journal Article

Protein arginine methyltransferase 6-dependent gene expression and splicing: Association with breast cancer outcomes

Dowhan, Dennis H., Harrison, Matthew J., Eriksson, Natalie A., Bailey, Peter, Pearen, Michael A, Fuller, Peter J., Funder, John W., Simpson, Evan R., Leedman, Peter J., Tilley, Wayne D., Brown, Melissa A., Clarke, Christine L. and Muscat, George E. O. (2012). Protein arginine methyltransferase 6-dependent gene expression and splicing: Association with breast cancer outcomes. Endocrine-Related Cancer, 19 (4), 509-526. doi: 10.1530/ERC-12-0100

Protein arginine methyltransferase 6-dependent gene expression and splicing: Association with breast cancer outcomes

2012

Journal Article

Morphological and molecular analysis of a breast cancer cluster at the ABC Studio in Toowong

Waddell, N., Stein, S. R., Wagner, S. A., Bennett, I., Djougarian, A., Melana, S., Jaffer, S., Holland, J. F., Pogo, B. G. T., Gonda, T. J., Brown, M. A., Leo, P., Saunders, N. A., McMillan, N. A., Cocciardi, S., Vargas, A. C., Lakhani, S. R., Chenevix-Trench, G., Newman, B. and Francis, G. D. (2012). Morphological and molecular analysis of a breast cancer cluster at the ABC Studio in Toowong. Pathology, 44 (5), 469-472. doi: 10.1097/PAT.0b013e3283559e67

Morphological and molecular analysis of a breast cancer cluster at the ABC Studio in Toowong

2012

Journal Article

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Spurdle, Amanda B., Whiley, Phillip J., Thompson, Bryony, Feng, Bingjian, Healey, Sue, Brown, Melissa A., Pettigrew, Christopher, kConFab, Van Asperen, Christi J., Ausems, Margreet G. E. M., Kattentidt-Mouravieva, Anna A., Pigg, Maritta H., Schmutzler, Rita K., Engel, Christoph, Meindl, Alfons, German Consortium of Hereditary Breast and Ovarian Cancer, Caputo, Sandrine, Sinilnikova, Olga M., Lidereau, Rosette, French COVAR group collaborators, Couch, Fergus J., Guidugli, Lucia, van Overeem Hansen, Thomas, Thomassen, Mads, Eccles, Diana M., Tucker, Kathy, Benitez, Javier, Domchek, Susan M., Toland, Amanda E. ... ENIGMA Consortium (2012). BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. Journal of Medical Genetics, 49 (8), 525-532. doi: 10.1136/jmedgenet-2012-101037

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

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 site

Brewster, 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

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

2012

Journal Article

Expression and function of the protein tyrosine phosphatase receptor J (PTPRJ) in normal mammary epithelial cells and breast tumors

Smart, 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

Expression and function of the protein tyrosine phosphatase receptor J (PTPRJ) in normal mammary epithelial cells and breast tumors

2012

Journal Article

Androgen receptor expression predicts breast cancer survival: The role of genetic and epigenetic events

Peters, 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

Androgen receptor expression predicts breast cancer survival: The role of genetic and epigenetic events

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 adva

Wee, 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

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

2012

Journal Article

A guide for functional analysis of BRCA1 variants of uncertain significance

Millot, 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

A guide for functional analysis of BRCA1 variants of uncertain significance