Dr Nadege Presneau

Senior Lecturer

DepartmentLife Sciences
Research groupCancer
Tissue Architecture and Regeneration Research Group

Research outputs

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. doi:10.1186/s13073-014-0116-0

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. doi:10.1111/his.12489

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. doi:10.1002/cam4.268

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. doi:10.1002/cjp2.13

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. doi:10.1007/s00428-015-1765-0

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. doi:10.1038/ng.2814

Molecular Diagnostics
Warford, A. and Presneau, N. (ed.) 2019. Molecular Diagnostics. Oxford Oxford University Press.

Intact Sample Analysis
Warford, A. and Volpi, E. 2019. Intact Sample Analysis. in: Warford, A. and Presneau, Nadège (ed.) Molecular Diagnostics Oxford University Press.

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Dwek, M. and Presneau, Nadège 2019. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nature Communications . doi:10.1038/s41467-018-08053-5

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
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. doi:10.1016/j.ajhg.2018.11.002

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
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. doi:10.1038/ng.3785

Association analysis identifies 65 new breast cancer risk loci
Dwek, M. and Presneau, Nadège 2017. Association analysis identifies 65 new breast cancer risk loci. Nature. doi:10.1038/nature24284

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. doi:10.1038/bjc.2017.174

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. doi:10.1186/s13058-016-0718-0

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. doi:10.1111/his.12443