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

TitleAn NRAS mutation in a case of Erdheim-Chester disease
TypeJournal article
AuthorsAitken, S.J.
Presneau, Nadège
Amary, M.F.
O'Donnell, P.
Flanagan, A.M.
Tirabosco, R.
KeywordsNRAS mutation, Erdheim–Chester disease, next generation sequencing
JournalHistopathology
Journal citation66 (2), pp. 316-319
ISSN1365-2559
Year2015
PublisherWiley
Accepted author manuscript
Digital Object Identifier (DOI)https://doi.org/10.1111/his.12443
Web address (URL)http://dx.doi.org/10.1111/his.12443
Publication dates
Published02 Sep 2014
Published20 Jan 2015

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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

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

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

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

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

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