• Article

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Zeng, C., Guo, X., Long, J., Kuchenbaecker, K.B., Droit, A., Michailidou, K., Ghoussaini, M., Kar, S., Freeman, A., Hopper, J.L., Milne, R.L., Bolla, M.K., Wang, Q., Dennis, J., Agata, S., Ahmed, S., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Arun, B.K., Arver, B., Bacot, F., Barrowdale, D., Baynes, C., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Blomqvist, C., Blot, W.J., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.-L., Brand, J.S., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldes, T., Campbell, I., Carpenter, J., Chang-Claude, J., Choi, J.Y., Claes, K.B.M., Clarke, C., Cox, A., Cross, S.S., Czene, K., Daly, M.B., de la Hoya, M., De Leeneer, K., Devilee, P., Diez, O., Domchek, S.M., Doody, M.M., Dorfling, C.M., Dörk, T., Dos Santos Silva, I., Dumont, M., Dwek, M., Dworniczak, B., Egan, K.M., Eilber, U., Einbeigi, Z., Ejlertsen, B., Ellis, S., Frost, D., Lalloo, F., Fasching, P.A., Figueroa, J.D., Flyger, H., Friedlander, M., Friedman, E., Gambino, G., Gao, Y.T., Garber, J., Garcia-Closas, M., Gehrig, A., Damiola, F., Lesueur, F., Mazoyer, S., Stoppa-Lyonnet, D., Giles, G.G., Godwin, A.K., Goldgar, D.E., González-Neira, A., Greene, M.H., Guenel, P., Haeberle, L., Haiman, C.A., Hallberg, E., Hamann, U., Hansen, T.V.O., Hart, S., Hartikainen, J.M., Hartman, M., Hassan, N., Healey, S., Hogervorst, F.B.L., Verhoef, S., Hendricks, C.B., Hillemanns, P., Hollestelle, A., Hulick, P.J., Hunter, D.J., Imyanitov, E.N., Isaacs, C., Ito, H., Jakubowska, A., Janavicius, R., Jaworska-Bieniek, K., Jensen, U.B., John, E.M., Beauparlant, C.J., Jones, M., Kabisch, M., Kang, D., Karlan, B.Y., Kauppila, S., Kerin, M.J., Khan, S., Khusnutdinova, E., Knight, J.A., Konstantopoulou, I., Kraft, P., Kwong, A., Laitman, Y., Lambrechts, D., Lazaro, C., Le Marchand, L., Lee, C.N., Lee, M.H., Lester, J., Li, J., Liljegren, A., Lindblom, A., Lophatananon, A., Lubinski, J., Mai, P.L., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Matsuo, K., McGuffog, L., Meindl, A., Menegaux, F., Montagna, M., Muir, K., Mulligan, A.M., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Newcomb, P.A., Nord, S., Nussbaum, R.L., Offit, K., Olah, E., Olopade, O.I., Olswold, C., Osorio, A., Papi, L., Park-Simon, T.W., Paulsson-Karlsson. Y., Peeters, S., Peissel, B., Peterlongo, P., Peto, J., Pfeiler, G., Phelan, C.M., Presneau, Nadège, Presneau, N., Radice, P., Rahman, N., Ramus, S.J., Rashid, M.U., Rennert, G., Rhiem, K., Rudolph, A., Salani, R., Sangrajrang, S., Sawyer, E.J., Schmidt, M.K., Schmutzler, R.K., Schoemaker, M.J., Schürmann, P., Seynaeve, C., Shen, C.Y., Shrubsole, M.J., Shu, X.O., Sigurdson, A., Singer, C.F., Slager, S., Soucy, P., Southey, M., Steinemann, D., Swerdlow, A., Szabo, C.I., Tchatchou, S., Teixeira, M.R., Teo, S.H., Terry, M.B., Tessier, D.C., Teulé, A., Thomassen, M., Tihomirova, L., Tischkowitz, M., Toland, A.E., Tung, N., Turnbull, C., van den Ouweland, A.M., van Rensburg, E.J., Ven den Berg, D., Vijai, J., Wang-Gohrke, S., Weitzel, J.N., Whittemore, A.S., Winqvist, R., Wong, T.Y., Wu, A.H., Yannoukakos, D., Yu, J.C., Pharoah, P.D., Hall, P., Chenevix-Trench, G., Dunning, A.M., Simard, J., Couch, F.J., Antoniou, A.C., Easton, D.F., Antoniou, A.C. and Zheng, W. 2016. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. Breast Cancer Research. 18 (1), p. 64. https://doi.org/10.1186/s13058-016-0718-0

TitleIdentification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
AuthorsZeng, C., Guo, X., Long, J., Kuchenbaecker, K.B., Droit, A., Michailidou, K., Ghoussaini, M., Kar, S., Freeman, A., Hopper, J.L., Milne, R.L., Bolla, M.K., Wang, Q., Dennis, J., Agata, S., Ahmed, S., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Arun, B.K., Arver, B., Bacot, F., Barrowdale, D., Baynes, C., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Blomqvist, C., Blot, W.J., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.-L., Brand, J.S., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldes, T., Campbell, I., Carpenter, J., Chang-Claude, J., Choi, J.Y., Claes, K.B.M., Clarke, C., Cox, A., Cross, S.S., Czene, K., Daly, M.B., de la Hoya, M., De Leeneer, K., Devilee, P., Diez, O., Domchek, S.M., Doody, M.M., Dorfling, C.M., Dörk, T., Dos Santos Silva, I., Dumont, M., Dwek, M., Dworniczak, B., Egan, K.M., Eilber, U., Einbeigi, Z., Ejlertsen, B., Ellis, S., Frost, D., Lalloo, F., Fasching, P.A., Figueroa, J.D., Flyger, H., Friedlander, M., Friedman, E., Gambino, G., Gao, Y.T., Garber, J., Garcia-Closas, M., Gehrig, A., Damiola, F., Lesueur, F., Mazoyer, S., Stoppa-Lyonnet, D., Giles, G.G., Godwin, A.K., Goldgar, D.E., González-Neira, A., Greene, M.H., Guenel, P., Haeberle, L., Haiman, C.A., Hallberg, E., Hamann, U., Hansen, T.V.O., Hart, S., Hartikainen, J.M., Hartman, M., Hassan, N., Healey, S., Hogervorst, F.B.L., Verhoef, S., Hendricks, C.B., Hillemanns, P., Hollestelle, A., Hulick, P.J., Hunter, D.J., Imyanitov, E.N., Isaacs, C., Ito, H., Jakubowska, A., Janavicius, R., Jaworska-Bieniek, K., Jensen, U.B., John, E.M., Beauparlant, C.J., Jones, M., Kabisch, M., Kang, D., Karlan, B.Y., Kauppila, S., Kerin, M.J., Khan, S., Khusnutdinova, E., Knight, J.A., Konstantopoulou, I., Kraft, P., Kwong, A., Laitman, Y., Lambrechts, D., Lazaro, C., Le Marchand, L., Lee, C.N., Lee, M.H., Lester, J., Li, J., Liljegren, A., Lindblom, A., Lophatananon, A., Lubinski, J., Mai, P.L., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Matsuo, K., McGuffog, L., Meindl, A., Menegaux, F., Montagna, M., Muir, K., Mulligan, A.M., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Newcomb, P.A., Nord, S., Nussbaum, R.L., Offit, K., Olah, E., Olopade, O.I., Olswold, C., Osorio, A., Papi, L., Park-Simon, T.W., Paulsson-Karlsson. Y., Peeters, S., Peissel, B., Peterlongo, P., Peto, J., Pfeiler, G., Phelan, C.M., Presneau, Nadège, Presneau, N., Radice, P., Rahman, N., Ramus, S.J., Rashid, M.U., Rennert, G., Rhiem, K., Rudolph, A., Salani, R., Sangrajrang, S., Sawyer, E.J., Schmidt, M.K., Schmutzler, R.K., Schoemaker, M.J., Schürmann, P., Seynaeve, C., Shen, C.Y., Shrubsole, M.J., Shu, X.O., Sigurdson, A., Singer, C.F., Slager, S., Soucy, P., Southey, M., Steinemann, D., Swerdlow, A., Szabo, C.I., Tchatchou, S., Teixeira, M.R., Teo, S.H., Terry, M.B., Tessier, D.C., Teulé, A., Thomassen, M., Tihomirova, L., Tischkowitz, M., Toland, A.E., Tung, N., Turnbull, C., van den Ouweland, A.M., van Rensburg, E.J., Ven den Berg, D., Vijai, J., Wang-Gohrke, S., Weitzel, J.N., Whittemore, A.S., Winqvist, R., Wong, T.Y., Wu, A.H., Yannoukakos, D., Yu, J.C., Pharoah, P.D., Hall, P., Chenevix-Trench, G., Dunning, A.M., Simard, J., Couch, F.J., Antoniou, A.C., Easton, D.F., Antoniou, A.C. and Zheng, W.
Abstract

BACKGROUND:
Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk.

METHOD:
We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/ ), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation.

RESULTS:
Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06-1.12; P = 3 × 10(-9)), rs805510 (OR = 1.08, 95 % CI = 1.04-1.12, P = 2 × 10(-5)), and rs1871152 (OR = 1.04, 95 % CI = 1.02-1.06; P = 2 × 10(-4)) identified in the general populations, and rs113824616 (P = 7 × 10(-5)) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0.05.

CONCLUSION:
This study identified four independent association signals at 12p11 and revealed potentially functional variants, providing additional insights into the underlying biological mechanism(s) for the association observed between variants at 12p11 and breast cancer risk

JournalBreast Cancer Research
Journal citation18 (1), p. 64
ISSN1465-5411
Year2016
PublisherBioMed Central
Publisher's version
Digital Object Identifier (DOI)https://doi.org/10.1186/s13058-016-0718-0
Publication dates
Published21 Jun 2016
LicenseCC BY 4.0

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Bolotov, A., Garcia-Closas, M., Lucio, P. and Abuin, A. 2023. Tableaux and Sequent Calculi for CTL and ECTL: Satisfiability Test with Certifying Proofs and Models. Journal of Logical and Algebraic Methods in Programming. 130 100828. https://doi.org/10.1016/j.jlamp.2022.100828

Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study.
Dixon-Suen, S., Lewis, Sarah J, Martin, Richard M, English, Dallas R, Boyle, T., Giles, Graham G, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Lush, Michael, Investigators, Abctb, Ahearn, Thomas U, Ambrosone, Christine B, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Auvinen, Päivi, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Brenner, Hermann, Brüning, Thomas, Buys, Saundra S, Camp, Nicola J, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Cessna, Melissa H, Chang-Claude, Jenny, Chanock, Stephen J, Clarke, Christine L, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A, Goldberg, Mark S, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Häberle, Lothar, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N, Harvie, Michelle, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J, Hoppe, Reiner, Hopper, John, Howell, Anthony, Hunter, David J, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey, Kaaks, Rudolf, Keeman, Renske, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Loibl, Sibylle, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, Menon, Usha, Mulligan, Anna Marie, Murphy, Rachel A, Collaborators, Nbcs, Nevanlinna, Heli, Nevelsteen, Ines, Newman, William G, Offit, Kenneth, Olshan, Andrew F, Olsson, Håkan, Orr, Nick, Patel, Alpa, Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rack, Brigitte, Radice, Paolo, Rees-Punia, Erika, Rennert, Gad, Rennert, Hedy S, Romero, A., Saloustros, Emmanouil, Sandler, Dale P, Schmidt, Marjanka K, Schmutzler, Rita K, Schwentner, Lukas, Scott, Christopher, Shah, Mitul, Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C, Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Terry, Mary Beth, Tollenaar, Rob A E M, Troester, Melissa A, Truong, Thérèse, Untch, Michael, Vachon, Celine M, Joseph, Vijai, Wappenschmidt, Barbara, Weinberg, Clarice R, Wolk, Alicja, Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Dunning, Alison M, Pharoah, Paul D P, Easton, Douglas F, Milne, Roger L, Lynch, B. and Breast Cancer Association Consortium 2022. Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study. British Journal of Sports Medicine. 56 (20), pp. 1157-1170. https://doi.org/10.1136/bjsports-2021-105132

Development of chitosan, pullulan, and alginate based drug-loaded nano-emulsions as a potential malignant melanoma delivery platform
Hatami Fard, G., Moinipoor, Z., Anastasova-Ivanova, S., Iqbal, H.M.N., Dwek, M., Getting, S.J. and Keshavarz, T. 2022. Development of chitosan, pullulan, and alginate based drug-loaded nano-emulsions as a potential malignant melanoma delivery platform . Carbohydrate Polymer Technologies and Applications. 4 100250. https://doi.org/10.1016/j.carpta.2022.100250

Incorporating progesterone receptor expression into the PREDICT breast prognostic model.
Grootes, Isabelle, Keeman, Renske, Blows, Fiona M, Milne, Roger L, Giles, Graham G, Swerdlow, Anthony J, Fasching, Peter A, Abubakar, Mustapha, Andrulis, Irene L, Anton-Culver, Hoda, Beckmann, Matthias W, Blomqvist, Carl, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Briceno, Ignacio, Burwinkel, Barbara, Camp, Nicola J, Castelao, Jose E, Choi, Ji-Yeob, Clarke, Christine L, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Dunning, Alison M, Dwek, Miriam, Easton, Douglas F, Eccles, Diana M, Eriksson, Mikael, Ernst, Kristina, Evans, D Gareth, Figueroa, Jonine D, Fink, Visnja, Floris, Giuseppe, Fox, Stephen, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Sáenz, José A, González-Neira, Anna, Haeberle, Lothar, Haiman, Christopher A, Hall, Per, Hamann, Ute, Harkness, Elaine F, Hartman, Mikael, Hein, Alexander, Hooning, Maartje J, Hou, Ming-Feng, Howell, Sacha J, ABCTB Investigators, kConFab Investigators, Ito, Hidemi, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey, Kang, Daehee, Kristensen, Vessela N, Kwong, Ava, Lambrechts, Diether, Li, Jingmei, Lubiński, Jan, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Taib, Nur Aishah Mohd, Mulligan, Anna Marie, Nevanlinna, Heli, Newman, William G, Offit, Kenneth, Osorio, Ana, Park, Sue K, Park-Simon, Tjoung-Won, Patel, Alpa V, Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rennert, Gad, Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J, Schneeweiss, Andreas, Schochter, Fabienne, Schoemaker, Minouk J, Shen, Chen-Yang, Shibli, Rana, Sinn, Peter, Tapper, William J, Tawfiq, Essa, Teo, Soo Hwang, Teras, Lauren R, Torres, Diana, Vachon, Celine M, van Deurzen, Carolien H M, Wendt, Camilla, Williams, Justin A, Winqvist, Robert, Elwood, Mark, Schmidt, Marjanka K, García-Closas, Montserrat and Pharoah, Paul D P 2022. Incorporating progesterone receptor expression into the PREDICT breast prognostic model. European journal of cancer (Oxford, England : 1990). 173, pp. 178-193. https://doi.org/S0959-8049(22)00362-8

Development and Optimization of a Machine-Learning Prediction Model for Acute Desquamation After Breast Radiation Therapy in the Multicenter REQUITE Cohort.
Aldraimli, Mahmoud, Osman, Sarah, Grishchuck, Diana, Ingram, Samuel, Lyon, Robert, Mistry, Anil, Oliveira, Jorge, Samuel, Robert, Shelley, Leila E A, Soria, Daniele, Dwek, Miriam V, Aguado-Barrera, Miguel E, Azria, David, Chang-Claude, Jenny, Dunning, Alison, Giraldo, Alexandra, Green, Sheryl, Gutiérrez-Enríquez, Sara, Herskind, Carsten, van Hulle, Hans, Lambrecht, Maarten, Lozza, Laura, Rancati, Tiziana, Reyes, Victoria, Rosenstein, Barry S, de Ruysscher, Dirk, de Santis, Maria C, Seibold, Petra, Sperk, Elena, Symonds, R Paul, Stobart, Hilary, Taboada-Valadares, Begoña, Talbot, Christopher J, Vakaet, Vincent J L, Vega, Ana, Veldeman, Liv, Veldwijk, Marlon R, Webb, Adam, Weltens, Caroline, West, Catharine M, Chaussalet, Thierry J, Rattay, Tim and REQUITE consortium 2022. Development and Optimization of a Machine-Learning Prediction Model for Acute Desquamation After Breast Radiation Therapy in the Multicenter REQUITE Cohort. Advances in radiation oncology. 7 (3) 100890. https://doi.org/10.1016/j.adro.2021.100890

Renal tumouroids: challenges of manufacturing 3D cultures from patient derived primary cells.
Nyga, A., Stamati, Katerina, Redondo, Patricia A, Azimi, Tayebeh, Feber, Andrew, Neves, Joana B, Hamoudi, Rifat, Presneau, Nadège, El Sheikh, Soha, Tran, Maxine G B, Emberton, Mark, Loizidou, Marilena and Cheema, Umber 2022. Renal tumouroids: challenges of manufacturing 3D cultures from patient derived primary cells. Journal of Cell Communication and Signaling. 16, pp. 637-648. https://doi.org/10.1007/s12079-022-00666-2

Common variants in breast cancer risk loci predispose to distinct tumor subtypes.
Ahearn, T., Zhang, Haoyu, Michailidou, Kyriaki, Milne, Roger L, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Lush, Michael, Wang, Qin, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Auer, Paul L, Augustinsson, Annelie, Baten, Adinda, Becher, Heiko, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Brooks-Wilson, Angela, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Clarke, Christine L, Collée, J Margriet, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, T., Dwek, Miriam, Eccles, Diana M, Evans, D., Fasching, Peter A, Figueroa, Jonine, Floris, Giuseppe, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Goldberg, Mark S, González-Neira, Anna, Alnæs, Grethe I Grenaker, Grip, Mervi, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Harkness, Elaine F, Heemskerk-Gerritsen, Bernadette A M, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Howell, Anthony, Jakimovska, Milena, Jakubowska, Anna, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kauppila, Saila, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Koutros, Stella, Kristensen, Vessela N, Krüger, Ute, Kubelka-Sabit, Katerina, Kurian, Allison W, Kyriacou, Kyriacos, Lambrechts, Diether, Lee, Derrick G, Lindblom, Annika, Linet, Martha, Lissowska, Jolanta, Llaneza, Ana, Lo, Wing-Yee, MacInnis, Robert J, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, McLean, Catriona, Meindl, Alfons, Menon, Usha, Nevanlinna, Heli, Newman, William G, Nodora, Jesse, Offit, Kenneth, Olsson, Håkan, Orr, Nick, Park-Simon, Tjoung-Won, Patel, Alpa V, Peto, Julian, Pita, Guillermo, Plaseska-Karanfilska, Dijana, Prentice, Ross, Punie, Kevin, Pylkäs, Katri, Radice, Paolo, Rennert, Gad, Romero, A., Rüdiger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P, Sawyer, Elinor J, Schmutzler, Rita K, Schoemaker, M., Schöttker, Ben, Sherman, Mark E, Shu, Xiao-Ou, Smichkoska, Snezhana, Southey, Melissa C, Spinelli, John J, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Teras, Lauren R, Terry, Mary Beth, Torres, Diana, Troester, Melissa A, Vachon, Celine M, van Deurzen, Carolien H M, van Veen, Elke M, Wagner, Philippe, Weinberg, Clarice R, Wendt, Camilla, Wesseling, Jelle, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R, Zheng, Wei, Couch, Fergus J, Simard, Jacques, Kraft, Peter, Easton, Douglas F, Pharoah, Paul D P, Schmidt, Marjanka K, Garcia-Closas, M. and Chatterjee, Nilanjan 2022. Common variants in breast cancer risk loci predispose to distinct tumor subtypes. Breast Cancer Research. 24 2. https://doi.org/10.1186/s13058-021-01484-x

Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium
Morra, Anna, Jung, Audrey Y., Behrens, S., Keeman, R., Ahearn, T., Anton-Culver, Hoda, Arndt, V., Augustinsson, A., Auvinen, Päivi K., Beane Freeman, Laura E., Becher, Heiko, Beckmann, Matthias W., Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Brenner, H., Briceno, Ignacio, Brucker, Sara Y., Camp, N., Campa, Daniele, Canzian, F., Castelao, Jose E., Chanock, Stephen J., Choi, Ji-Yeob, Clarke, Christine L., Couch, Fergus J., Cox, A., Cross, Simon S., Czene, Kamila, Dörk, Thilo, Dunning, A., Dwek, Miriam, Easton, Douglas F., Eccles, Diana M., Egan, Kathleen M., Evans, D., Fasching, P., Flyger, Henrik, Gago-Dominguez, M., Gapstur, Susan M., Garcia-Saenz, J., Gaudet, M., Giles, G., Grip, Mervi, Guénel, P., Haiman, Christopher A., Håkansson, Niclas, Hall, P., Hamann, Ute, Han, Sileny N., Hart, S., Hartman, M., Heyworth, Jane S., Hoppe, Reiner, Hopper, John L., Hunter, David J., Ito, H., Jager, A., Jakimovska, Milena, Jakubowska, A., Janni, W., Kaaks, R., Kang, Daehee, Middha Kapoor, P., Kitahara, Cari M., Koutros, S., Kraft, Peter, Kristensen, Vessela N., Lacey, James V., Lambrechts, D., Le Marchand, Loic, Li, J., Lindblom, Annika, Lubiński, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mariapun, Shivaani, Matsuo, K., Mavroudis, Dimitrios, Milne, R., Muranen, T., Newman, W., Noh, Dong-Young, Nordestgaard, Børge G., Obi, Nadia, Olshan, Andrew F., Olsson, Håkan, Park-Simon, T., Petridis, Christos, Pharoah, P., Plaseska-Karanfilska, Dijana, Presneau, Nadege, Rashid, Muhammad U., Rennert, G., Rennert, H., Rhenius, V., Romero, A., Saloustros, E., Sawyer, Elinor J., Schneeweiss, A., Schwentner, Lukas, Scott, C., Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Southey, M., Stram, D., Tamimi, R., Tapper, William, Tollenaar, Rob A.E.M., Tomlinson, I., Torres, D., Troester, Melissa A., Truong, Thérèse, Vachon, C., Wang, Qin, Wang, Sophia S., Williams, Justin A., Winqvist, Robert, Wolk, A., Wu, Anna H., Yoo, Keun-Young, Yu, Jyh-Cherng, Zheng, Wei, Ziogas, A., Yang, Xiaohong R., Eliassen, A. Heather, Holmes, M., Garcia-Closas, M., Teo, S., Schmidt, M. and Chang-Claude, J. 2021. Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium. Cancer Epidemiology, Biomarkers and Prevention. 30 (4), pp. 623-642. https://doi.org/10.1158/1055-9965.epi-20-0924

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment.
Morra, Anna, Escala-Garcia, Maria, Beesley, Jonathan, Keeman, Renske, Canisius, Sander, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Auer, Paul L, Augustinsson, Annelie, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bojesen, Stig E, Bolla, Manjeet K, Brenner, Hermann, Brüning, Thomas, Buys, Saundra S, Caan, Bette, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Cheng, Ting-Yuan David, Clarke, Christine L, Colonna, Sarah V, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Dörk, T., Dossus, Laure, Dunning, Alison M, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Flyger, Henrik, Fritschi, Lin, Gago-Dominguez, Manuela, García-Sáenz, José A, Giles, Graham G, Grip, Mervi, Guénel, Pascal, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Hart, Steven N, Hartikainen, Jaana M, Hartmann, Arndt, He, Wei, Hooning, Maartje J, Hoppe, Reiner, Hopper, John L, Howell, Anthony, Hunter, David J, Jager, Agnes, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Jung, Audrey Y, Kaaks, Rudolf, Keupers, Machteld, Kitahara, Cari M, Koutros, Stella, Kraft, Peter, Kristensen, Vessela N, Kurian, Allison W, Lacey, James V, Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Linet, Martha, Luben, Robert N, Lubiński, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martens, John W M, Martinez, Maria Elena, Mavroudis, Dimitrios, Michailidou, Kyriaki, Milne, Roger L, Mulligan, Anna Marie, Muranen, Taru A, Nevanlinna, Heli, Newman, W., Nielsen, Sune F, Nordestgaard, Børge G, Olshan, Andrew F, Olsson, Håkan, Orr, Nick, Park-Simon, Tjoung-Won, Patel, Alpa V, Peissel, Bernard, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Presneau, Nadege, Rack, Brigitte, Rennert, Gad, Rennert, Hedy S, Rhenius, Valerie, Romero, A., Roylance, Rebecca, Ruebner, Matthias, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Schneeweiss, Andreas, Scott, Christopher, Shah, Mitul, Smichkoska, Snezhana, Southey, Melissa C, Stone, J., Surowy, Harald, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Teras, Lauren R, Terry, Mary Beth, Tollenaar, Rob A E M, Tomlinson, Ian, Troester, Melissa A, Truong, Thérèse, Vachon, Celine M, Wang, Qin, Hurson, Amber N, Winqvist, Robert, Wolk, Alicja, Ziogas, Argyrios, Brauch, Hiltrud, García-Closas, Montserrat, Pharoah, Paul D P, Easton, Douglas F, Chenevix-Trench, Georgia and Schmidt, M. 2021. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment. Breast cancer research : BCR. 23 (1) 86. https://doi.org/10.1186/s13058-021-01450-7

Mendelian randomisation study of smoking exposure in relation to breast cancer risk.
Park, H., Neumeyer, Sonja, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, J., Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Augustinsson, A., Baten, Adinda, Beane Freeman, Laura E, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Brauch, Hiltrud, Brenner, H., Brucker, Sara Y, Burwinkel, Barbara, Campa, Daniele, Canzian, F., Castelao, Jose E, Chanock, Stephen J, Chenevix-Trench, Georgia, Clarke, Christine L, NBCS Collaborators, Conroy, Don M, Couch, Fergus J, Cox, A., Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, P., Dörk, Thilo, Dos-Santos-Silva, Isabel, Dwek, Miriam, Eccles, Diana M, Eliassen, A Heather, Engel, Christoph, Eriksson, Mikael, Evans, D Gareth, Fasching, P., Flyger, Henrik, Fritschi, Lin, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, Giles, Graham G, Glendon, Gord, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Grip, Mervi, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hall, Per, Hamann, Ute, Han, Sileny, Harkness, E., Hart, S., He, Wei, Heemskerk-Gerritsen, B., Hopper, John L, Hunter, David J, ABCTB Investigators, kConFab Investigators, Jager, Agnes, Jakubowska, A., John, Esther M, Jung, Audrey, Kaaks, Rudolf, Middha Kapoor, P., Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M, Koppert, Linetta B, Koutros, Stella, Kristensen, Vessela N, Kurian, A., Lacey, James, Lambrechts, Diether, Le Marchand, Loic, Lo, Wing-Yee, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Martinez, Maria Elena, Mavroudis, Dimitrios, Meindl, Alfons, Menon, Usha, Milne, Roger L, Muranen, Taru A, Nevanlinna, Heli, Newman, W., Nordestgaard, Børge G, Offit, Kenneth, Olshan, Andrew F, Olsson, Håkan, Park-Simon, Tjoung-Won, Peterlongo, P., Peto, J., Plaseska-Karanfilska, Dijana, Presneau, Nadege, Radice, Paolo, Rennert, Gad, Rennert, Hedy S, Romero, Atocha, Saloustros, Emmanouil, Sawyer, E., Schmidt, Marjanka K, Schmutzler, Rita K, Schoemaker, Minouk J, Schwentner, Lukas, Scott, C., Shah, Mitul, Shu, Xiao-Ou, Simard, Jacques, Smeets, A., Southey, Melissa C, Spinelli, John J, Stevens, Victoria, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Terry, Mary Beth, Tomlinson, I., Troester, Melissa A, Truong, T., Vachon, Celine M, van Veen, Elke M, Vijai, Joseph, Wang, Sophia, Wendt, Camilla, Winqvist, Robert, Wolk, Alicja, Ziogas, Argyrios, Dunning, Alison M, Pharoah, P., Easton, Douglas F, Zheng, Wei, Kraft, Peter and Chang-Claude, Jenny 2021. Mendelian randomisation study of smoking exposure in relation to breast cancer risk. British Journal of Cancer. https://doi.org/10.1038/s41416-021-01432-8

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.
Baxter, Joseph S, Johnson, Nichola, Tomczyk, Katarzyna, Gillespie, Andrea, Maguire, Sarah, Brough, Rachel, Fachal, Laura, Michailidou, Kyriaki, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Ahearn, Thomas U, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Aronson, Kristan J, Augustinsson, Annelie, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Brucker, Sara Y, Cai, Qiuyin, Campa, Daniele, Canzian, Federico, Castelao, Jose E, Chan, Tsun L, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Choi, Ji-Yeob, Clarke, Christine L, NBCS Collaborators, Colonna, Sarah, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Dörk, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Engel, Christoph, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Chi, García-Closas, Montserrat, García-Sáenz, José A, Ghoussaini, Maya, Giles, Graham G, Goldberg, Mark S, González-Neira, Anna, Guénel, Pascal, Gündert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hartman, Mikael, Hatse, Sigrid, Hauke, Jan, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L, Hou, Ming-Feng, kConFab Investigators, ABCTB Investigators, Ito, Hidemi, Iwasaki, Motoki, Jager, Agnes, Jakubowska, Anna, Janni, Wolfgang, John, Esther M, Joseph, Vijai, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Keeman, Renske, Khusnutdinova, Elza, Kim, Sung-Won, Kosma, Veli-Matti, Kraft, Peter, Kristensen, Vessela N, Kubelka-Sabit, Katerina, Kurian, Allison W, Kwong, Ava, Lacey, James V, Lambrechts, Diether, Larson, Nicole L, Larsson, Susanna C, Le Marchand, Loic, Lejbkowicz, Flavio, Li, Jingmei, Long, Jirong, Lophatananon, Artitaya, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Mayes, Rebecca, Menon, Usha, Milne, Roger L, Mohd Taib, Nur Aishah, Muir, Kenneth, Muranen, Taru A, Murphy, Rachel A, Nevanlinna, Heli, O'Brien, Katie M, Offit, Kenneth, Olson, Janet E, Olsson, Håkan, Park, Sue K, Park-Simon, Tjoung-Won, Patel, Alpa V, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Rennert, Gad, Romero, Atocha, Ruebner, Matthias, Rüdiger, Thomas, Saloustros, Emmanouil, Sandler, Dale P, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Schneeweiss, Andreas, Schoemaker, Minouk J, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C, Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Teo, Soo Hwang, Teras, Lauren R, Terry, Mary Beth, Toland, Amanda E, Tomlinson, Ian, Truong, Thérèse, Tseng, Chiu-Chen, Untch, Michael, Vachon, Celine M, van den Ouweland, Ans M W, Wang, Sophia S, Weinberg, Clarice R, Wendt, Camilla, Winham, Stacey J, Winqvist, Robert, Wolk, Alicja, Wu, Anna H, Yamaji, Taiki, Zheng, Wei, Ziogas, Argyrios, Pharoah, Paul D P, Dunning, Alison M, Easton, Douglas F, Pettitt, Stephen J, Lord, Christopher J, Haider, Syed, Orr, Nick and Fletcher, Olivia 2021. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element. American Journal of Human Genetics. 108, pp. 1190-1203. https://doi.org/10.1016/j.ajhg.2021.05.013

Clinical relevance assessment of animal preclinical research (RAA) tool: development and explanation.
Gurusamy, K., Moher, D., Loizidou, M., Ahmed, Irfan, Avey, M., Barron, Carly C, Davidson, Brian, Dwek, M., Gluud, C., Jell, G., Katakam, Kiran, Montroy, Joshua, McHugh, T., Osborne, N., Ritskes-Hoitinga, M., van Laarhoven, Kees, Vollert, Jan and Lalu, Manoj 2021. Clinical relevance assessment of animal preclinical research (RAA) tool: development and explanation. PeerJ . 9 e10673. https://doi.org/10.7717/peerj.10673

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Liu, J., Prager-van der Smissen, W.J.C., Collée, J.M., Bolla, M.K., Wang, Q., Michailidou, K., Dennis, J., Ahearn, T.U., Aittomäki, K., Ambrosone, C.B., Andrulis, I.L., Hollestelle, A. and Dwek, M. 2020. Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk. Scientific Reports. 10 9688. https://doi.org/10.1038/s41598-020-65665-y

Cancer cells grown in 3D under fluid flow exhibit an aggressive phenotype and reduced responsiveness to the anti-cancer treatment doxorubicin.
Azimi, T., Loizidou, M. and Dwek, M. 2020. Cancer cells grown in 3D under fluid flow exhibit an aggressive phenotype and reduced responsiveness to the anti-cancer treatment doxorubicin. Scientific Reports. 10 (1) 12020. https://doi.org/10.1038/s41598-020-68999-9

Machine Learning Prediction of Susceptibility to Visceral Fat Associated Diseases
Aldraimli, M., Soria, D., Parkinson, J., Thomas, E.L., Bell, J.D., Dwek, M. and Chaussalet, T.J. 2020. Machine Learning Prediction of Susceptibility to Visceral Fat Associated Diseases. Health and Technology. 10, pp. 925-944. https://doi.org/10.1007/s12553-020-00446-1

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
Maria Escala-Garcia, Jean Abraham, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Alan Ashworth, Paul L. Auer, Päivi Auvinen, Matthias W. Beckmann, Jonathan Beesley, Sabine Behrens, Javier Benitez, Marina Bermisheva, Carl Blomqvist, William Blot, Natalia V. Bogdanova, Stig E. Bojesen, Manjeet K. Bolla, Anne-Lise Børresen-Dale, Hiltrud Brauch, Hermann Brenner, Sara Y. Brucker, Barbara Burwinkel, Carlos Caldas, Federico Canzian, Jenny Chang-Claude, Stephen J. Chanock, Suet-Feung Chin, Christine L. Clarke, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Mary B. Daly, Joe Dennis, Peter Devilee, Janet A. Dunn, Alison M. Dunning, Miriam Dwek, Helena M. Earl, Diana M. Eccles, A. Heather Eliassen, Carolina Ellberg, D. Gareth Evans, Peter A. Fasching, Jonine Figueroa, Henrik Flyger, Manuela Gago-Dominguez, Susan M. Gapstur, Montserrat García-Closas, José A. García-Sáenz, Mia M. Gaudet, Angela George, Graham G. Giles, David E. Goldgar, Anna González-Neira, Mervi Grip, Pascal Guénel, Qi Guo, Christopher A. Haiman, Niclas Håkansson, Ute Hamann, Patricia A. Harrington, Louise Hiller, Maartje J. Hooning, John L. Hopper, Anthony Howell, Chiun-Sheng Huang, Guanmengqian Huang, David J. Hunter, Anna Jakubowska, Esther M. John, Rudolf Kaaks, Pooja Middha Kapoor, Renske Keeman, Cari M. Kitahara, Linetta B. Koppert, Peter Kraft, Vessela N. Kristensen, Diether Lambrechts, Loic Le Marchand, Flavio Lejbkowicz, Annika Lindblom, Jan Lubiński, Arto Mannermaa, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, Maria Elena Martinez, Tabea Maurer, Dimitrios Mavroudis, Alfons Meindl, Roger L. Milne, Anna Marie Mulligan, Susan L. Neuhausen, Heli Nevanlinna, William G. Newman, Andrew F. Olshan, Janet E. Olson, Håkan Olsson, Nick Orr, Paolo Peterlongo, Christos Petridis, Ross L. Prentice, Nadege Presneau, Kevin Punie, Dhanya Ramachandran, Gad Rennert, Atocha Romero, Mythily Sachchithananthan, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Lukas Schwentner, Christopher Scott, Jacques Simard, Christof Sohn, Melissa C. Southey, Anthony J. Swerdlow, Rulla M. Tamimi, William J. Tapper, Manuel R. Teixeira, Mary Beth Terry, Heather Thorne, Rob A. E. M. Tollenaar, Ian Tomlinson, Melissa A. Troester, Thérèse Truong, Clare Turnbull, Celine M. Vachon, Lizet E. van der Kolk, Qin Wang, Robert Winqvist, Alicja Wolk, Xiaohong R. Yang, Argyrios Ziogas, Paul D. P. Pharoah, Per Hall, Lodewyk F. A. Wessels, Georgia Chenevix-Trench, Gary D. Bader, Thilo Dörk, Douglas F. Easton, Sander Canisius & Marjanka K. Schmidt, Dwek, M. and Presneau, Nadège 2020. A network analysis to identify mediators of germline-driven differences in breast cancer prognosis. Nature Communications . 16 (11) 312. https://doi.org/10.1038/s41467-019-14100-6

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Fachal, L., Aschard, H., Beesley, J., Barnes, D.R., Allen, J., Kar, S., Pooley, K.A., Dennis, J., Michailidou, K., Turman, C., Soucy, P., Lemaçon, A., Lush, M., Tyrer, J.P., Dunning, A.M. and Dwek, M. 2020. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nature Genetics. 52, pp. 56-73. https://doi.org/10.1038/s41588-019-0537-1

Serum IgA1 shows increased levels of α 2,6-linked sialic acid in breast cancer
Lomax-Browne, Hannah J., Robertson, Claire, Antonopoulos, Aristotelis, Leathem, Anthony J. C., Haslam, Stuart M., Dell, Anne and Dwek, M. 2019. Serum IgA1 shows increased levels of α 2,6-linked sialic acid in breast cancer. Interface Focus. 9 (2), p. 20180079 20180079. https://doi.org/10.1098/rsfs.2018.0079

Genome-wide association study of germline variants and breast cancer-specific mortality.
Escala-Garcia, M., Guo, Q., Dörk, T., Canisius, S., Keeman, R., Dennis, J., Beesley, J., Lecarpentier, J., Bolla, M.K., Wang, Q., Abraham, J., Andrulis, I.L., Anton-Culver, H., Schmidt, M.K. and Dwek, M. 2019. Genome-wide association study of germline variants and breast cancer-specific mortality. British Journal of Cancer. 120, pp. 647-657. https://doi.org/10.1038/s41416-019-0393-x

Machine Learning Classification of Females Susceptibility to Visceral Fat Associated Diseases
Aldraimli, M., Soria, D., Parkinson, J., Whitcher, B., Thomas, E.L., Bell, J.D., Chaussalet, T.J. and Dwek, M. 2019. Machine Learning Classification of Females Susceptibility to Visceral Fat Associated Diseases. MEDICON 2019: XV Mediterranean Conference on Medical and Biological Engineering and Computing. Coimbra, Portugal 26 - 28 Sep 2019 Springer. https://doi.org/10.1007/978-3-030-31635-8_81

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
Ferreira, M.A., Gamazon, E.R., Al-Ejeh, F., Aittomäki, K., Andrulis, I.L., Anton-Culver, H., Arason, A., Arndt, V., Aronson, K.J., Arun, B.K., Asseryanis, E., Azzollini, J., Chenevix-Trench, G., Dwek, M. and Presneau, Nadège 2019. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nature Communications . 10, p. 1741. https://doi.org/10.1038/s41467-018-08053-5

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
Mavaddat, N., Michailidou, K., Dennis, J., Lush, M., Fachal, L., Lee, A., Tyrer, J.P., Chen, T.H., Wang, Q., Bolla, M.K., Yang, X., Adank, M.A., Ahearn, T., Aittomäki, K., Allen, J., Easton, D.F., Dwek, M. and Presneau, Nadège 2019. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. American Journal of Human Genetics. 104 (1), pp. 21-34. https://doi.org/10.1016/j.ajhg.2018.11.002

Shared heritability and functional enrichment across six solid cancers.
Jiang, X., Finucane, H.K., Schumacher, F.R., Schmit, S.L., Tyrer, J.P., Han, Y., Michailidou, K., Lesseur, C., Kuchenbaecker, K.B., Dennis, J., Conti, D.V., Casey, G., Gaudet, M.M., Lindström, S. and Dwek, M. 2019. Shared heritability and functional enrichment across six solid cancers. Nature Communications . 10 431. https://doi.org/10.1038/s41467-018-08054-4

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis
Xiang Shu, Lang Wu, Nikhil K Khankari, Xiao-Ou Shu, Thomas J Wang, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Roger L Milne, Marjanka K Schmidt, Paul D P Pharoah, Irene L Andrulis, David J Hunter, Jacques Simard, Douglas F Easton, Wei Zheng, Breast Cancer Association Consortium and Dwek, M. 2019. Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis . International Journal of Epidemiology. 48 (3), pp. 795-806. https://doi.org/10.1093/ije/dyy201

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
Wu, L., Shi, W., Long, J., Guo, X., Michailidou, K., Beesley, J., Bolla, M.K., Shu, X.O., Lu, Y., Cai, Q., Al-Ejeh, F., Rozali, E., Wang, Q., Dennis, J., Li, B., Zeng, C., Feng, H., Zheng, W. and Dwek, M. 2018. A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. Nature Genetics. 50, pp. 968-978. https://doi.org/10.1038/s41588-018-0132-x

Glycosylation and Disease
Dwek, M. and Markiv, A. 2018. Glycosylation and Disease. eLS. 10.1002/9780470015902.a0002151.pub3. https://doi.org/10.1002/9780470015902.a0002151.pub3

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Milne, R.L., Kuchenbaecker, K.B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Simard, J., Dwek, M. and Presneau, Nadège 2017. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nature Genetics. 49, pp. 1767-1778. https://doi.org/10.1038/ng.3785

Association analysis identifies 65 new breast cancer risk loci
Michailidou, K., Lindström, S., Dennis, J., Beesley, J., Hui, S., Kar, S., Lemaçon, A., Soucy, P., Glubb, D., Rostamianfar, A., Bolla, M.K., Wang, Q., Tyrer, J., Dicks, E., Easton, D.F., Dwek, M. and Presneau, Nadège 2017. Association analysis identifies 65 new breast cancer risk loci. Nature. 551, pp. 92-94. https://doi.org/10.1038/nature24284

PhytoCloud: A gamified Mobile Web Application to modulate diet and physical activity of women with breast cancer
Economou, D., Dwek, M., Elliott, B., Ramezanian Kalahroudi, M. and Azimi, T. 2017. PhytoCloud: A gamified Mobile Web Application to modulate diet and physical activity of women with breast cancer. IEEE 30th International Symposium on Computer-Based Medical Systems. Thessaloniki, Greece 22 Jun - 24 Sep 2017 IEEE . https://doi.org/10.1109/CBMS.2017.164

Post-translational regulation contributes to the loss of LKB1 expression through SIRT1 deacetylase in osteosarcomas
Presneau, Nadège, Duhamel, L.A., Ye, H., Tirabosco, R., Flanagan, A.M. and Eskandarpour, M. 2017. Post-translational regulation contributes to the loss of LKB1 expression through SIRT1 deacetylase in osteosarcomas. British Journal of Cancer. 117, pp. 398-408. https://doi.org/10.1038/bjc.2017.174

Cellular glycosylation affects Herceptin binding and sensitivity of breast cancer cells to doxorubicin and growth factors
Peiris, D., Spector, A.F., Lomax-Browne, H., Azimi, T., Ramesh, B., Loizidou, M., Welch, H. and Dwek, M. 2017. Cellular glycosylation affects Herceptin binding and sensitivity of breast cancer cells to doxorubicin and growth factors. Scientific Reports. 7 43006. https://doi.org/10.1038/srep43006

Cadherin-5: a biomarker for metastatic breast cancer with optimum efficacy in oestrogen receptor-positive breast cancers with vascular invasion
Fry, S., Robertson, C.E., Swann, R. and Dwek, M. 2016. Cadherin-5: a biomarker for metastatic breast cancer with optimum efficacy in oestrogen receptor-positive breast cancers with vascular invasion. British Journal of Cancer. 114, pp. 1019-1026. https://doi.org/10.1038/bjc.2016.66

Efficacy of DOPE/DC-cholesterol liposomes and GCPQ micelles as AZD6244 nanocarriers in a 3D colorectal cancer in vitro model
López-Dávila, V., Magdeldin, T., Welch, H., Dwek, M., Uchegbu, I. and Loizidou, M. 2016. Efficacy of DOPE/DC-cholesterol liposomes and GCPQ micelles as AZD6244 nanocarriers in a 3D colorectal cancer in vitro model. Nanomedicine. 11 (4), pp. 331-344. https://doi.org/10.2217/nnm.15.206

The Breast Cancer Cookbook
Keshtgar, M., Robertson, C.E. and Dwek, M. Keshtgar, M. (ed.) 2015. The Breast Cancer Cookbook. London Quadrille.

Identification of O-Linked Glycoproteins Binding to the Lectin Helix pomatia Agglutinin as Markers of Metastatic Colorectal Cancer
Peiris, D., Ossondo, M., Fry, S., Loizidou, M., Smith-Ravin, J. and Dwek, M. 2015. Identification of O-Linked Glycoproteins Binding to the Lectin Helix pomatia Agglutinin as Markers of Metastatic Colorectal Cancer. PLoS ONE. 10 (10) e0138345. https://doi.org/10.1371/journal.pone.0138345

Prediction of breast cancer risk based on profiling with common genetic variants
Mavaddat, N., Pharoah, P.D.P., Michailidou, K., Tyrer, J., Brook, M.N., Bolla, M.K., Wang, Q., Dennis, J., Dunning, A.M., Shah, M., Luben, R., Brown, J.C.C., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Czene, K., Darabi, H., Eriksson, M., Peto, J., Dos-Santos-Silva, I., Dudbridge, F., Johnson, N., Schmidt, M.K., Broeks, A., Verhoef, S., Rutgers, E.J., Swerdlow, A.J., Ashworth, A., Orr, N., Schoemaker, M.J., Figueroa, J.D., Chanock, S.J., Brinton, L., Lissowska, J., Couch, F.J., Olson, J.E., Vachon, C., Pankratz, V.S., Lambrechts, D., Wildiers, H., Van Ongeval, C., van Limbergen, E., Kristensen, V., Grenaker Alnaes, G., Nord, S., Borresen-Dale, A.-L., Nevanlinna, H., Muranen, T.A., Aittomaki, K., Blomqvist, C., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Fasching, P.A., Haeberle, L., Ekici, A.B., Beckmann, M.W., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Trentham-Dietz, A., Newcomb, P., Titus, L., Egan, K.M., Hunter, D.J., Lindstrom, S., Tamimi, R.M., Kraft, P., Rahman, N., Turnbull, C., Renwick, A., Seal, S., Li, J., Liu, J., Humphreys, K., Benitez, J., Pilar Zamora, M., Arias Perez, J.I., Menéndez, P., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Bogdanova, N.V., Antonenkova, N.N., Dörk, T., Anton-Culver, H., Neuhausen, S.L., Ziogas, A., Bernstein, L., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., van Asperen, C.J., Cox, A., Cross, S.S., Reed, M.W., Khusnutdinova, E., Bermisheva, M., Prokofyeva, D., Takhirova, Z., Meindl, A., Schmutzler, R.K., Sutter, C., Yang, R., Schürmann, P., Bremer, M., Christiansen, H., Park-Simon, T.-W., Hillemanns, P., Guenel, P., Truong, T., Menegaux, F., Sanchez, M., Radice, P., Peterlongo, P., Manoukian, S., Pensotti, V., Hopper, J.L., Tsimiklis, H., Apicella, C., Southey, M.C., Brauch, H., Brüning, T., Ko, Y.-D., Sigurdson, A.J., Doody, M.M., Hamann, U., Torres, D., Ulmer, H.U., Försti, A., Sawyer, E., Tomlinson, I., Kerin, M.J., Miller, N., Andrulis, I.L., Knight, J.A., Glendon, G., Marie Mulligan, A., Chenevix-Trench, G., Balleine, R., Giles, G.G., Milne, R.L., McLean, C.A., Lindblom, A., Margolin, S., Haiman, C.A., Henderson, B.E., Schumacher, F., Le Marchand, L., Eilber, U., Wang-Gohrke, S., Hooning, M.J., Hollestelle, A., van den Ouweland, A.M.W., Koppert, L.B., Carpenter, J., Clarke, C., Scott, R., Mannermaa, A., Kataja, V., Kosma, V.-M., Hartikainen, J.M., Brenner, H., Arndt, V., Stegmaier, C., Karina Dieffenbach, A., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Offit, K., Vijai, J., Robson, M., Rau-Murthy, R., Dwek, M., Swann, R., Annie Perkins, K., Goldberg, M.S., Labrèche, F., Dumont, M., Eccles, D.M., Tapper, W.J., Rafiq, S., John, E.M., Whittemore, A.S., Slager, S., Yannoukakos, D., Toland, A.E., Yao, S., Zheng, W., Halverson, S.L., Gonzalez-Neira, A., Pita, G., Rosario Alonso, M., Álvarez, N., Herrero, D., Tessier, D.C., Vincent, D., Bacot, F., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C.S., Simard, J., Hall, P., Easton, D.F., Garcia-Closas, M., Dos Santos Silva, I., Channock, S.J., Zamora, M.P., Ignacio Arias Perez, J., Neuhasen, S.L., Prokofieva, D., Mulligan, A.M., Halman, C.A., Dieffenbach, A.K., Perkins, K.A. and Alonso, M.R. 2015. Prediction of breast cancer risk based on profiling with common genetic variants. Journal of the National Cancer Institute. 107 (5). https://doi.org/10.1093/jnci/djv036

Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses
Aitken, S.J., Presneau, Nadège, Dileo, P., Berisha, F., Tirabosco, R., Amary, M.F., Flanagan, A.M. and Kalimuthu Sangeetha 2015. Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses. Virchows Archiv. 467 (2), pp. 203-210. https://doi.org/10.1007/s00428-015-1765-0

Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics
Presneau, Nadège, Baumhoer Daniel, Behjati Sam, Pillay Nischalan, Tarpey Patrick Campbell Peter, J., Jundt Gernot, Hamoudi Rifat Wedge David, C., Van Loo Peter Hassan A Bassim, Khatri, B., Ye Hongtao, Tirabosco, R., Flanagan, A.M., Campbell Peter J., Wedge David C., Hassan A. Bassim and Amary, M.F. 2015. Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics. The Journal of Pathology: Clinical Research. 1 (2), pp. 113-123. https://doi.org/10.1002/cjp2.13

Mutations in IDH1 and IDH2 are not present in sporadic ovarian sex cord-stromal tumours
Aitken, S.J., Presneau, Nadège, Khatri, B., Flanagan, A.M., Clarke, B. and McCluggage, W.G. 2015. Mutations in IDH1 and IDH2 are not present in sporadic ovarian sex cord-stromal tumours. Histopathology. 66 (6), pp. 897-898. https://doi.org/10.1111/his.12489

An NRAS mutation in a case of Erdheim-Chester disease
Aitken, S.J., Presneau, Nadège, Amary, M.F., O'Donnell, P., Flanagan, A.M. and Tirabosco, R. 2015. An NRAS mutation in a case of Erdheim-Chester disease. Histopathology . 66 (2), pp. 316-319. https://doi.org/10.1111/his.12443

Genetic predisposition to in situ and invasive lobular carcinoma of the breast.
Sawyer, E., Roylance, R., Petridis, C., Brook, M.N., Nowinski, S., Papouli, E., Fletcher, O., Pinder, S., Hanby, A., Kohut, K., Gorman, P., Caneppele, M., Peto, J., Garcia-Closas, M. and Dwek, M. 2014. Genetic predisposition to in situ and invasive lobular carcinoma of the breast. PLoS genetics. 10 (4) e1004285. https://doi.org/10.1371/journal.pgen.1004285

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
Spurdle, A.B., Couch, F.J., Parsons, M.T., McGuffog, L., Barrowdale, D., Bolla, M.K., Wang, Q., Healey, S., Schmutzler, R., Wappenschmidt, B., Rhiem, K., Hahnen, E., Engel, C., kConFab Investigators and Dwek, M. 2014. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. Breast Cancer Research. 16 3419. https://doi.org/10.1186/s13058-014-0474-y

Functional Studies On Receptor-Type Protein Tyrosine Phosphatases Of The R3 Subgroup Using Bimolecular Fluorescence Complementation (BiFC) Assays
Dorofejeva, O., Dwek, M. and Barr, A.J. 2014. Functional Studies On Receptor-Type Protein Tyrosine Phosphatases Of The R3 Subgroup Using Bimolecular Fluorescence Complementation (BiFC) Assays . Pharmacology 2014. London 16 Dec 2014 British Pharmacological Society.

Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy
Fernanda Amary, M., Ye, H., Berisha, F., Khatri, B., Forbes, G., Lehovsky, K., Frezza, A.M., Behjati, S., Tarpey, P., Pillay, N., Campbell, P.J., Tirabosco, R., Presneau, Nadège, Strauss, S.J. and Flanagan, A.M. 2014. Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy. Cancer Medicine. 3 (4), pp. 980-987. https://doi.org/10.1002/cam4.268

Assessment of patient-derived tumour xenografts (PDXs) as a discovery tool for cancer epigenomics
Guilhamon, P., Butcher, L.M., Presneau, Nadège, Wilson, G.A., Feber, A., Paul, D.S., Schütte, M., Haybaeck, J., Keilholz, U., Hoffman, J., Ross, M.T., Flanagan, A.M. and Beck, S. 2014. Assessment of patient-derived tumour xenografts (PDXs) as a discovery tool for cancer epigenomics. Genome Medicine. 6 (12), pp. 116-126. https://doi.org/10.1186/s13073-014-0116-0

Preferential lectin binding of cancer cells upon sialic acid treatment under nutrient deprivation.
Badr, H.A., Elsayed, A.I., Ahmed, H., Dwek, M.V., Li, C.Z. and Djansugurova, L.B. 2013. Preferential lectin binding of cancer cells upon sialic acid treatment under nutrient deprivation. Applied Biochemistry and Biotechnology. 171, pp. 963-974. https://doi.org/10.1007/s12010-013-0409-6

Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone
Behjati Sam, Tarpey Patrick Campbell Peter, J., Presneau, Nadège, Pillay Nischalan, Van Loo Peter Hassan A Bassim, Wedge David C., Cooke, S.L., Gundem, G., Davies, H., Nik-Zainal, S., Martin, S., McLaren, S., Goody, V., Robinson, B., Butler, A., Teague, J.W., Halai, D., Khatri, B., Myklebost, O., Baumhoer Daniel, Jundt Gernot, Hamoudi Rifat Wedge David, C., Tirabosco, R., Amary, M.F., Futreal, P.A., Stratton, M.R., Campbell Peter J., Flanagan, A.M., Scheipl Susanne and Goodie Victoria 2013. Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone. Nature Genetics. 45 (12), pp. 1479-1482. https://doi.org/10.1038/ng.2814

Conjugation of quantum dots on carbon nanotubes for medical diagnosis and treatment
Madani, S.Y., Shabani, F., Dwek, M. and Seifalian, A.M. 2013. Conjugation of quantum dots on carbon nanotubes for medical diagnosis and treatment. International Journal of Nanomedicine. 8 (1), pp. 941-950. https://doi.org/10.2147/IJN.S36416

A targeted glycoproteomic approach identifies cadherin-5 as a novel biomarker of metastatic breast cancer
Fry, S., Sinclair, J., Timms, J.F., Leathem, A. and Dwek, M. 2013. A targeted glycoproteomic approach identifies cadherin-5 as a novel biomarker of metastatic breast cancer. Cancer Letters. 328 (2), pp. 335-344. https://doi.org/10.1016/j.canlet.2012.10.011

The DietCompLyf study: a prospective cohort study of breast cancer survival and phytoestrogen consumption
Swann, R., Perkins, K.A., Velentzis, L.S., Ciria, C., Dutton, S., Mulligan, A.A., Woodside, J., Cantwell, M.M., Leathem, A., Robertson, C.E. and Dwek, M. 2013. The DietCompLyf study: a prospective cohort study of breast cancer survival and phytoestrogen consumption. Maturitas. 75 (3), pp. 232-240. https://doi.org/10.1016/j.maturitas.2013.03.018

The DietCompLyf study: a prospective longitudinal study of breast cancer survival
Swann, R., Perkins, A., Velentzis, L.S., Mulligan, A.M., Woodside, J., Cantwell, M.M., Dutton, S., Leathem, A., Robertson, C.E. and Dwek, M. 2012. The DietCompLyf study: a prospective longitudinal study of breast cancer survival. European Journal of Cancer. 48 (5), p. S216. https://doi.org/10.1016/S0959-8049(12)71525-3

DietCompLyf study: a multi-centre UK study on breast cancer. What are the dietary and lifestyle changes following diagnosis?
Perkins, A., Swann, R., Woodside, J., Robertson, C.E., Dutton, S., Mulligan, A.M., Velentzis, L.S., Keshtgar, M.R., Leathem, A. and Dwek, M. 2012. DietCompLyf study: a multi-centre UK study on breast cancer. What are the dietary and lifestyle changes following diagnosis? European Journal of Cancer. 48 (5), p. S282. https://doi.org/10.1016/S0959-8049(12)71766-5

Identification of metastasis-associated glycoproteins in colorectal cancer
Peiris, D., Markiv, A., Curley, G.P. and Dwek, M. 2012. Identification of metastasis-associated glycoproteins in colorectal cancer. European Journal of Cancer. 48 (5), pp. S39-S40. https://doi.org/10.1016/S0959-8049(12)70863-8

19p13.1 is a triple negative-specific breast cancer susceptibility locus
Stevens, K.N., Fredericksen, Z., Vachon, C., Wang, X., Margolin, S., Lindblom, A., Nevanlinna, H., Greco, D., Aittomaki, K., Blomqvist, C., Chang-Claude, J., Vrieling, A., Flesch-Janys, D., Sinn, H.P., Wang-Gohrke, S., Nickels, S., Brauch, H., Ko, Y.-D., Fischer, H.P., Schmutzler, R.K., Meindl, A., Bartram, C.R., Schott, S., Engel, C., Godwin, A.K., Weaver, J., Pathak, H.B., Sharma, P., Brenner, H., Muller, H., Arndt, V., Stegmaier, C., Miron, P., Yannoukakos, D., Stavropoulou, A., Fountzilas, G., Gogas, H.J., Swann, R., Dwek, M., Perkins, A., Milne, R.L., Benitez, J., Zamora, M.P., Ignacio Arias Perez, J., Bojesen, S.E., Nielsen, S.F., Nordestgaard, B.G., Flyger, H., Guenel, P., Truong, T., Menegaux, F., Cordina-Duverger, E., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Sawyer, E., Tomlinson, I., Kerin, M.J., Peto, J., Johnson, N., Fletcher, O., Dos Santos Silva, I., Fasching, P.A., Beckmann, M.W., Hartmann, A., Ekici, A.B., Lophatananon, A., Muir, K., Puttawibul, P., Wiangnon, S., Schmidt, M.K., Broeks, A., Braaf, L.M., Rosenberg, E.H., Hopper, J.L., Apicella, C., Park, D.J., Southey, M.C., Swerdlow, A.J., Ashworth, A., Orr, N., Schoemaker, M.J., Anton-Culver, H., Ziogas, A., Bernstein, L., Clarke Dur, C., Shen, C.Y., Yu, J.C., Hsu, H.M., Hsiung, C.N., Hamann, U., Dünnebier, T., Rüdiger, T., Ulmer, H.U., Pharoah, P.D.P., Dunning, A.M., Humphreys, M.K., Wang, Q., Cox, A., Cross, S.S., Reed, M.W.R., Hall, P., Czene, K., Ambrosone, C.B., Ademuyiwa, F., Hwang, H., Eccles, D.M., Garcia-Closas, M., Figueroa, J.D., Sherman, M.E., Lissowska, J., Devilee, P., Seynaeve, C., Tollenaar, R.A.E.M., Hooning, M.J., Andrulis, I.L., Knight, J.A., Glendon, G., Mulligan, A.M., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., John, E.M., Miron, A., Grenaker Alnaes, G., Kristensen, V., Borresen-Dale, A.L., Giles, G.G., Baglietto, L., McLean, C.A., Severi, G., Kose, M.L., Pankratz, V.S., Slager, S., Olson, J.E., Radice, P., Peterlongo, P., Manoukian, S., Barile, M., Lambrechts, D., Hatse, S., Dieudonne, A.S., Christiaens, M.R., Chenevix-Trench, G., Beesley, J., Chen, X., Mannermaa, A., Kosma, V.-M., Hartikainen, J.M., Soini, Y., Easton, D.F., Couch, F.J. and Borrensen-Dale, A.-L. 2012. 19p13.1 is a triple negative-specific breast cancer susceptibility locus. Cancer Research. 72 (7), pp. 1795-1803. https://doi.org/10.1158/0008-5472.CAN-11-3364

Genome-wide association analysis identifies three new breast cancer susceptibility loci
Ghoussaini, M., Fletcher, O., Michailidou, K., Turnbull, C., Schmidt, M.K., Dicks, E., Dennis, J., Wang, Q., Humphreys, M.K., Luccarini, C., Baynes, C., Conroy, D., Maranian, M., Ahmed, S., Driver, K., Johnson, N., Orr, N., Dos Santos Silva, I., Waisfisz, Q., Meijers-Heijboer, H., Uitterlinden, A.G., Rivadeneira, F., Hall, P., Czene, K., Irwanto, A., Liu, J., Nevanlinna, H., Aittomaki, K., Blomqvist, C., Meindl, A., Schmutzler, R.K., Muller-Myhsok, B., Lichtner, P., Chang-Claude, J., Hein, R., Nickels, S., Flesch-Janys, D., Tsimiklis, H., Makalic, E., Schmidt, D., Bui, M., Hopper, J.L., Apicella, C., Park, D.J., Southey, M.C., Hunter, D.J., Channock, S.J., Broeks, A., Verhoef, S., Hogervorst, F.B.L., Fasching, P.A., Lux, M.P., Beckmann, M.W., Ekici, A.B., Sawyer, E., Tomlinson, I., Kerin, M.J., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guenel, P., Truong, T., Cordina-Duverger, E., Menegaux, F., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Milne, R.L., Alonso, M.R., Gonzalez-Neira, A., Benitez, J., Anton-Culver, H., Ziogas, A., Bernstein, L., Clarke Dur, C., Brenner, H., Muller, H., Arndt, V., Stegmaier, C., Justenhoven, C., Brauch, H., Brüning, T., Wang-Gohrke, S., Eilber, U., Dörk, T., Schürmann, P., Bremer, M., Hillemanns, P., Bogdanova, N.V., Antonenkova, N.N., Rogov, Y.I., Karstens, J.H., Bermisheva, M., Prokofieva, D., Khusnutdinova, E., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V.-M., Hartikainen, J.M., Lambrechts, D., Yesilyurt, B.T., Floris, G., Leunen, K., Manoukian, S., Bonanni, B., Fortuzzi, S., Peterlongo, P., Couch, F.J., Wang, X., Stevens, K.N., Lee, A., Giles, G.G., Baglietto, L., Severi, G., McLean, C.A., Grenaker Alnaes, G., Kristensen, V., Borrensen-Dale, A.-L., John, E.M., Miron, A., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I.L., Glendon, G., Mulligan, A.M., Devilee, P., van Asperen, C.J., Tollenaar, R.A.E.M., Seynaeve, C., Figueroa, J.D., Garcia-Closas, M., Brinton, L., Lissowska, J., Hooning, M.J., Hollestelle, A., Oldenburg, R.A., van den Ouweland, A.M.W., Cox, A., Reed, M.W.R., Shah, M., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Jones, M., Schoemaker, M.J., Ashworth, A., Swerdlow, A.J., Beesley, J., Chen, X., Muir, K., Lophatananon, A., Rattanamongkongul, S., Chaiwerawattana, A., Kang, D., Yoo, K.Y., Noh, D.Y., Shen, C.Y., Yu, J.C., Wu, P.E., Hsiung, C.N., Perkins, A., Swann, R., Velentzis, L.S., Eccles, D.M., Tapper, W.J., Gerty, S.M., Graham, N.J., Ponder, B.A.J., Chenevix-Trench, G., Pharoah, P.D.P., Lathrop, M., Dunning, A.M., Rahman, N., Peto, J. and Easton, D.F. 2012. Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nature Genetics. 44 (3), pp. 312-318. https://doi.org/10.1038/ng.1049

The lectin Helix pomatia agglutinin recognises O-GlcNAc containing glycoproteins in human breast cancer
Rambaruth, N.D.S., Greenwell, P. and Dwek, M. 2012. The lectin Helix pomatia agglutinin recognises O-GlcNAc containing glycoproteins in human breast cancer. Glycobiology. 22 (6), pp. 839-848. https://doi.org/10.1093/glycob/cws051

Functionalization of single-walled carbon nanotubes and their binding to cancer cells.
Madani, S.Y., Tan, A., Dwek, M. and Seifalian, A.M. 2012. Functionalization of single-walled carbon nanotubes and their binding to cancer cells. International Journal of Nanomedicine. 2012 (7), pp. 905-914. https://doi.org/10.2147/ijn.s25035

Lectin array based strategies for identifying metastasis-associated changes in glycosylation
Fry, S., Afrough, B., Leathem, A. and Dwek, M. 2012. Lectin array based strategies for identifying metastasis-associated changes in glycosylation. Methods in Molecular Biology. 878, pp. 267-272. https://doi.org/10.1007/978-1-61779-854-2_18

2DE- based proteomics for the analysis of metastasis associated proteins
Dwek, M. and Peiris, D. 2012. 2DE- based proteomics for the analysis of metastasis associated proteins. Methods in Molecular Biology. 878, pp. 111-120. https://doi.org/10.1007/978-1-61779-854-2_7

A novel approach to determining the affinity of protein-carbohydrate interactions employing adherent cancer cells grown on a biosensor surface
Peiris, D., Markiv, A., Curley, G.P. and Dwek, M. 2012. A novel approach to determining the affinity of protein-carbohydrate interactions employing adherent cancer cells grown on a biosensor surface. Biosensors and Bioelectronics. 35 (1), pp. 160-166. https://doi.org/10.1016/j.bios.2012.02.037

Beyond the genome and proteome: targeting protein modifications in cancer
Markiv, A., Rambaruth, N.D.S. and Dwek, M. 2012. Beyond the genome and proteome: targeting protein modifications in cancer. Current Opinions in Pharmacology.. 12 (4), pp. 408-413. https://doi.org/10.1016/j.coph.2012.04.003

Association of serum anti-Tn IgM with breast cancer recurrence
Afrough, B., Fry, S., Lomax-Browne, H., Perkins, A., Leathem, A. and Dwek, M. 2011. Association of serum anti-Tn IgM with breast cancer recurrence. Immunology. 135 (Supp.1), p. 153. https://doi.org/10.1111/j.1365-2567.2011.03534.x

A physiological approach to assess the affinity of lectin carbohydrate interactions using cancer cells immobilised on a biosensor surface
Peiris, D., Markiv, A. and Dwek, M. 2011. A physiological approach to assess the affinity of lectin carbohydrate interactions using cancer cells immobilised on a biosensor surface. Glycobiology. 21 (11), p. 1523. https://doi.org/10.1093/glycob/cwr126

Identification, cloning and characterization of two N-acetylgalactosamine binding lectins from the albumen gland of Helix pomatia
Markiv, A., Peiris, D., Curley, G.P., Odell, M. and Dwek, M. 2011. Identification, cloning and characterization of two N-acetylgalactosamine binding lectins from the albumen gland of Helix pomatia. Journal of Biological Chemistry. 286 (23), pp. 20260-20266. https://doi.org/10.1074/jbc.M110.184515

Abstract B76 - An overview of the DietCompLyf study - a multicentre UK study to evaluate the role of diet, lifestyle and complementary medicine use on breast cancer recurrence
Swann, R., Perkins, A., Dahya, P., Woodside, J., Dutton, S., Robertson, C.E., Velentzis, L.S., Leathem, A. and Dwek, M. 2011. Abstract B76 - An overview of the DietCompLyf study - a multicentre UK study to evaluate the role of diet, lifestyle and complementary medicine use on breast cancer recurrence. National Cancer Research Institute (NCRI) Cancer Conference 2011. BT Convention Centre, Liverpool, UK 06 - 09 Nov 2011

Separation and characterization of different isoform populations of PSA in seminal fluid
Lines, A., Clarke, O., Dwek, M., Packer, S. and Edwards, R. 2011. Separation and characterization of different isoform populations of PSA in seminal fluid. American Association for Clinical Chemists Meeting. Atlanta, Georgia 15 - 19 Jul 2011

Abstract LB14 - Lectin microarray profilling of metastatic breast cancers
Fry, S., Afrough, B., Lomax-Browne, H., Timms, J.F., Velentzis, L.S. and Dwek, M. 2011. Abstract LB14 - Lectin microarray profilling of metastatic breast cancers. National Cancer Research Institute (NCRI) Cancer Conference 2011. BT Convention Centre, Liverpool, UK 06 - 09 Nov 2011

Cell surface glycan-lectin interactions in tumor metastasis
Rambaruth, N.D.S. and Dwek, M. 2011. Cell surface glycan-lectin interactions in tumor metastasis. Acta Histochemica. 113 (6), pp. 591-600. https://doi.org/10.1016/j.acthis.2011.03.001

Breast cancer invasion is mediated by beta-N-acetylglucosaminidase (beta-NAG) and associated with a dysregulation in the secretory pathway of cancer cells
Ramessur, K.T., Greenwell, P., Nash, R. and Dwek, M. 2010. Breast cancer invasion is mediated by beta-N-acetylglucosaminidase (beta-NAG) and associated with a dysregulation in the secretory pathway of cancer cells. British Journal of Biomedical Science. 67 (4), pp. 189-196.

Revealing real-time cell surface interaction analysis: a focus on lectin - cell glycan interactions
Dwek, M. 2010. Revealing real-time cell surface interaction analysis: a focus on lectin - cell glycan interactions. Discovery-Summit. Majestic Barrière Hotel, Cannes, France 22nd – 24th March 2010

Revealing real-time cell surface interaction analysis: a focus on lectin - cell glycan interactions
Dwek, M. 2010. Revealing real-time cell surface interaction analysis: a focus on lectin - cell glycan interactions. Informa Life Sciences 6th Annual Next Generation Protein Therapeutics. Sheraton Brussels Hotel, Belgium 28th – 29th September 2010

GalNAc-recognition by lectins for cancer prognostication
Dwek, M. 2010. GalNAc-recognition by lectins for cancer prognostication. 105th Annual Meeting of the Anatomische Gesellschaft. Hamburg, Germany 29th March 2010

An evaluation of breast cancer cell line sialyltransferase expression levels and assessment of possible correlation with HPA lectin binding profiles
Blaszczak, E., Greenwell, G. and Dwek, M. 2010. An evaluation of breast cancer cell line sialyltransferase expression levels and assessment of possible correlation with HPA lectin binding profiles. Horizons in Molecular Biology: International PhD Student Symposium. Göttingen, Germany 27 - 30 Sep 2010

A sensitive assay to measure biomarker glycosylation demonstrates increased fucosylation of prostate specific antigen (PSA) in patients with prostate cancer compared with benign prostatic hyperplasia
Dwek, M., Jenks, A. and Leathem, A. 2010. A sensitive assay to measure biomarker glycosylation demonstrates increased fucosylation of prostate specific antigen (PSA) in patients with prostate cancer compared with benign prostatic hyperplasia. Clinica Chimica Acta. 411 (23-24), pp. 1935-1939. https://doi.org/10.1016/j.cca.2010.08.009

Cancer prognostication using a recombinant form of the lectin from Helix pomatia agglutinin
Dwek, M., Markiv, A. and Odell, M. 2009. Cancer prognostication using a recombinant form of the lectin from Helix pomatia agglutinin. Glycobiology. 19 (11), p. 1318. https://doi.org/10.1093/glycob/cwp135

UEA-1 enables discrimination between prostate specific antigen from patients with prostate cancer and benign prostatic hyperplasia
Dwek, M., Jenks, A. and Leathem, A. 2009. UEA-1 enables discrimination between prostate specific antigen from patients with prostate cancer and benign prostatic hyperplasia. Glycobiology. 19 (11), p. 1318. https://doi.org/10.1093/glycob/cwp135

Colorectal cancer – a sticky problem
Dwek, M. 2007. Colorectal cancer – a sticky problem. Oncology News. 2 (3), pp. 19-21.

Predictors of axillary lymph node metastasis in breast cancer: a systematic review
Patani, N.R., Dwek, M. and Douek, M. 2007. Predictors of axillary lymph node metastasis in breast cancer: a systematic review. European Journal of Surgical Oncology. 33 (4), pp. 409-419. https://doi.org/10.1016/j.ejso.2006.09.003

Identification and elimination of false-positives in an ELISA-based system for qualitative assessment of glycoconjugate binding using a selection of plant lectins.
Afrough, B., Dwek, M. and Greenwell, P. 2007. Identification and elimination of false-positives in an ELISA-based system for qualitative assessment of glycoconjugate binding using a selection of plant lectins. BioTechniques. 43 (4), pp. 458-462. https://doi.org/10.2144/000112554

Proteome analysis of metastatic colorectal cancer cells recognized by the lectin Helix pomatia agglutinin (HPA)
Saint-Guirons, J., Zeqiraj, E., Schumacher, U., Greenwell, P. and Dwek, M. 2007. Proteome analysis of metastatic colorectal cancer cells recognized by the lectin Helix pomatia agglutinin (HPA). Proteomics. 7 (22), pp. 4082-4089. https://doi.org/10.1002/pmic.200700434

Breast cancer proteomics using two-dimensional electrophoresis: studying the breast cancer proteome
Dwek, M.V. and Rawlings, S.L. 2006. Breast cancer proteomics using two-dimensional electrophoresis: studying the breast cancer proteome. in: Brooks, S. and Harris, A. (ed.) Breast Cancer Research Protocols New Jersey, USA Humana Press. pp. 231-243

A proteomic approach to identify the integrins α 6 and α V as HPA binding partners in the metastatic colorectal cancer cell line HT29
Saint-Guirons, J., Zeqiraj, E., Greenwell, P. and Dwek, M. 2006. A proteomic approach to identify the integrins α 6 and α V as HPA binding partners in the metastatic colorectal cancer cell line HT29. Molecular and Cellular Proteomics. 5 (10 (supplement)), p. S148.

A molecular map of mesenchymal tumors
Henderson, S.R., Guiliano, D.B., Presneau, N., McLean, S., Frow, R., Vujovic, S., Anderson, J., Sebire, N., Whelan, J., Athanasou, N., Flanagan, A.M. and Boshoff, C. 2005. A molecular map of mesenchymal tumors. Genome Biology. 6 R76. https://doi.org/10.1186/gb-2005-6-9-r76

Confocal microscopy for the identification of glycosylation changes associated with metastatic colorectal cancer
Zeqiraj, E., Saint-Guirons, J., Kerrigan, M.J.P. and Dwek, M. 2005. Confocal microscopy for the identification of glycosylation changes associated with metastatic colorectal cancer. The Molecular Biology of Colorectal Cancer. UBHT Education Centre, Bristol, UK 10 - 11 Mar 2005

The metabolic role of methymalonyl CoA mutase in Escherichia coli
Kannan, S.M., Dwek, M., Bucke, C. and Roy, I. 2005. The metabolic role of methymalonyl CoA mutase in Escherichia coli. Proceedings of Viteomics: structure and function of vitamins and cofactors. Cambridge, UK 2005

Structure/function of N-glycans
Dwek, M. 2005. Structure/function of N-glycans. in: Redei, G.P. (ed.) Encyclopedic dictionary of genetics, genomics, and proteomics. 2nd edition Hoboken, USA Wiley.

Glycoproteomics
Dwek, M. 2005. Glycoproteomics. in: Redei, G.P. (ed.) Encyclopedic dictionary of genetics, genomics, and proteomics. 2nd edition Hoboken, USA Wiley.

Harnessing changes in cellular glycosylation in new cancer treatment strategies.
Dwek, M.V. and Brooks, S.A. 2004. Harnessing changes in cellular glycosylation in new cancer treatment strategies. Current Cancer Drug Targets. 4 (5), pp. 425-442. https://doi.org/10.2174/1568009043332899

Glycoproteomics
Dwek, M. and Mills, P. 2003. Glycoproteomics. in: Redei, G.P. (ed.) Encyclopedic dictionary of genetics, genomics, and proteomics Chichester, UK Wiley.

Structure/function of N-glycans
Brooks, S. and Dwek, M. 2003. Structure/function of N-glycans. in: Redei, G.P. (ed.) Encyclopedic dictionary of genetics, genomics, and proteomics Chichester, UK Wiley.

Proteome analysis enables separate clustering of normal breast, benign breast and breast cancer tissues
Dwek, M. and Alaiya, A.A. 2003. Proteome analysis enables separate clustering of normal breast, benign breast and breast cancer tissues. British Journal of Cancer. 89 (2), pp. 305-307. https://doi.org/10.1038/sj.bjc.6601008

Current perspectives in cancer proteomics
Dwek, M.V. and Rawlings, S.L. 2002. Current perspectives in cancer proteomics. Molecular Biotechnology. 22 (2), pp. 139-152. https://doi.org/10.1385/mb:22:2:139

Functional and molecular glycobiology
Brooks, S., Dwek, M. and Schumacher, U. 2002. Functional and molecular glycobiology. Oxford, UK BIOS Scientific.

Use of proteomic methodology for the characterization of human milk fat globular membrane proteins
Charlwood, J., Hanrahan, S., Tyldesley, R., Langridge, J., Dwek, M. and Camilleri, P. 2002. Use of proteomic methodology for the characterization of human milk fat globular membrane proteins. Analytical Biochemistry. 301 (2), pp. 314-324. https://doi.org/10.1006/abio.2001.5498

Helix pomatia agglutinin lectin-binding oligosaccharides of aggressive breast cancer.
Dwek, M., Ross, H.A., Streets, A.J., Brooks, S.A., Adam, E., Titcomb, A., Woodside, J.V., Schumacher, U. and Leathem, A.J. 2001. Helix pomatia agglutinin lectin-binding oligosaccharides of aggressive breast cancer. International Journal of Cancer. 95 (2), pp. 79-85. https://doi.org/10.1002/1097-0215(20010320)95:2<79::aid-ijc1014>3.0.co;2-e

Proteome and glycosylation mapping identifies post-translational modifications associated with aggressive breast cancer.
Dwek, M.V., Ross, H.A. and Leathem, A.J. 2001. Proteome and glycosylation mapping identifies post-translational modifications associated with aggressive breast cancer. Proteomics. 1 (6), pp. 756-763. https://doi.org/10.1002/1615-9861(200106)1:6<756::aid-prot756>3.0.co;2-x

A detailed analysis of neutral and acidic carbohydrates in human milk
Charlwood, J., Tolson, D., Dwek, M. and Camilleri, P. 1999. A detailed analysis of neutral and acidic carbohydrates in human milk. Analytical Biochemistry. 273 (2), pp. 261-277. https://doi.org/10.1006/abio.1999.4232

Breast cancer progression is associated with a reduction in the diversity of sialylated and neutral oligosaccharides.
Dwek, M.V., Lacey, H.A. and Leathem, A.J. 1998. Breast cancer progression is associated with a reduction in the diversity of sialylated and neutral oligosaccharides. Clinica Chimica Acta. 271 (2), pp. 191-202. https://doi.org/10.1016/s0009-8981(97)00258-1

Release and analysis of polypeptides and glycopolypeptides from formalin-fixed, paraffin wax-embedded tissue
Brooks, S.A., Dwek, M.V. and Leathem, A.J. 1998. Release and analysis of polypeptides and glycopolypeptides from formalin-fixed, paraffin wax-embedded tissue. The Histochemical journal. 30, pp. 609-615. https://doi.org/10.1023/a:1003222931605

Identification, purification and analysis of a 55 kDa lectin binding glycoprotein present in breast cancer tissue.
Streets, A.J., Brooks, S.A., Dwek, M.V. and Leathem, A.J. 1996. Identification, purification and analysis of a 55 kDa lectin binding glycoprotein present in breast cancer tissue. Clinica Chimica Acta. 254 (1), pp. 47-61. https://doi.org/10.1016/0009-8981(96)06363-2

Oligosaccharide release from frozen and paraffin-wax-embedded archival tissues.
Dwek, M.V., Brooks, S.A., Streets, A.J., Harvey, D.J. and Leathem, A.J. 1996. Oligosaccharide release from frozen and paraffin-wax-embedded archival tissues. Analytical Biochemistry. 242 (1), pp. 8-14. https://doi.org/10.1006/abio.1996.0420

Altered expression of N-acetyl galactosamine glycoproteins by breast cancers.
Brooks, S.A., Leathem, A.J. and Dwek, M.V. 1994. Altered expression of N-acetyl galactosamine glycoproteins by breast cancers. Biochemical Society Transactions. 22 (2), p. 95S. https://doi.org/10.1042/bst022095s

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