EP.17F.03 An Evidence-Driven Approach to Optimizing Clinical, Operational, And Economic Value in the Lung Cancer Care Pathway

Autor: Majem, M., Sullivan, I.G., Torrego, A., Surrallés, J., Purdy, J., Ascorbe Carmona, M., Dunsford, H., Wubs, M.

Publikováno v: In Journal of Thoracic Oncology October 2024 19(10) Supplement:S723-S723

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Whole exome sequencing in non-obstructive azoospermia allows the identification of a high-risk subgroup of infertile men for undiagnosed Fanconi Anemia, a cancer-prone disease

Autor: Krausz, C, Riera-Escamilla, A, Chianese, C, Moreno-Mendoza, D, Rajmil, O, Bogliolo, M, Blanco, I, Ars, E, Ruiz-Castane, E, Surralles, J

Publikováno v: European Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::69749a8230d8d32198f00c8453dbc6f6
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3969

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Autor: Figlioli, G., Bogliolo, M., Catucci, I., Caleca, L., Lasheras, S. V., Pujol, R., Kiiski, J. I., Muranen, T. A., Barnes, D. R., Dennis, J., Michailidou, K., Bolla, M. K., Leslie, G., Aalfs, C. M., Balleine, R., Baxter, R., Braye, S., Carpenter, J., Dahlstrom, J., Forbes, J., Lee, C. S., Marsh, D., Morey, A., Pathmanathan, N., Scott, R., Simpson, P., Spigelman, A., Wilcken, N., Yip, D., Zeps, N., Adank, M. A., Adlard, J., Agata, S., Cadoo, K., Agnarsson, B. A., Ahearn, T., Aittomaki, K., Ambrosone, C. B., Andrews, L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Arun, B. K., Asseryanis, E., Auber, B., Auvinen, P., Azzollini, J., Balmana, J., Barkardottir, R. B., Barrowdale, D., Barwell, J., Beane Freeman, L. E., Beauparlant, C. J., Beckmann, M. W., Behrens, S., Benitez, J., Berger, R., Bermisheva, M., Blanco, A. M., Blomqvist, C., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bonanni, B., Borg, A., Brady, A. F., Brauch, H., Brenner, H., Bruning, T., Burwinkel, B., Buys, S. S., Caldes, T., Caliebe, A., Caligo, M. A., Campa, D., Campbell, I. G., Canzian, F., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Claes, K. B. M., Clarke, C. L., Collavoli, A., Conner, T. A., Cox, D. G., Cybulski, C., Czene, K., Daly, M. B., de la Hoya, M., Devilee, P., Diez, O., Ding, Y. C., Dite, G. S., Ditsch, N., Domchek, S. M., Dorfling, C. M., dos-Santos-Silva, I., Durda, K., Dwek, M., Eccles, D. M., Ekici, A. B., Eliassen, A. H., Ellberg, C., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J., Flyger, H., Foulkes, W. D., Friebel, T. M., Friedman, E., Gabrielson, M., Gaddam, P., Gago-Dominguez, M., Gao, C., Gapstur, S. M., Garber, J., Garcia-Closas, M., Garcia-Saenz, J. A., Gaudet, M. M., Gayther, S. A., Belotti, M., Bertrand, O., Birot, A. -M., Buecher, B., Caputo, S., Dupre, A., Fourme, E., Gauthier-Villars, M., Golmard, L., Le Mentec, M., Moncoutier, V., de Pauw, A., Saule, C., Boutry-Kryza, N., Calender, A., Giraud, S., Leone, M., Bressac-de-Paillerets, B., Caron, O., Guillaud-Bataille, M., Bignon, Y. -J., Uhrhammer, N., Bonadona, V., Lasset, C., Berthet, P., Castera, L., Vaur, D., Bourdon, V., Nogues, C., Noguchi, T., Popovici, C., Remenieras, A., Sobol, H., Coupier, I., Pujol, P., Adenis, C., Dumont, A., Revillion, F., Muller, D., Barouk-Simonet, E., Bonnet, F., Bubien, V., Longy, M., Sevenet, N., Gladieff, L., Guimbaud, R., Feillel, V., Toulas, C., Dreyfus, H., Leroux, C. D., Peysselon, M., Rebischung, C., Legrand, C., Baurand, A., Bertolone, G., Coron, F., Faivre, L., Jacquot, C., Lizard, S., Kientz, C., Lebrun, M., Prieur, F., Fert-Ferrer, S., Mari, V., Venat-Bouvet, L., Bezieau, S., Delnatte, C., Mortemousque, I., Colas, C., Coulet, F., Soubrier, F., Warcoin, M., Bronner, M., Sokolowska, J., Collonge-Rame, M. -A., Damette, A., Gesta, P., Lallaoui, H., Chiesa, J., Molina-Gomes, D., Ingster, O., Manouvrier-Hanu, S., Lejeune, S., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., Guenel, P., Gutierrez-Barrera, A. M., Haeberle, L., Haiman, C. A., Hakansson, N., Hall, P., Hamann, U., Harrington, P. A., Hein, A., Heyworth, J., Hillemanns, P., Hollestelle, A., Hopper, J. L., Hosgood, H. D., Howell, A., Hu, C., Hulick, P. J., Hunter, D. J., Imyanitov, E. N., Aghmesheh, M., Greening, S., Amor, D., Gattas, M., Botes, L., Buckley, M., Friedlander, M., Koehler, J., Meiser, B., Saleh, M., Salisbury, E., Trainer, A., Tucker, K., Antill, Y., Dobrovic, A., Fellows, A., Fox, S., Harris, M., Nightingale, S., Phillips, K., Sambrook, J., Thorne, H., Armitage, S., Arnold, L., Kefford, R., Kirk, J., Rickard, E., Bastick, P., Beesley, J., Hayward, N., Spurdle, A., Walker, L., Beilby, J., Saunders, C., Bennett, I., Blackburn, A., Bogwitz, M., Gaff, C., Lindeman, G., Pachter, N., Scott, C., Sexton, A., Visvader, J., Taylor, J., Winship, I., Brennan, M., Brown, M., French, J., Edwards, S., Burgess, M., Burke, J., Patterson, B., Butow, P., Culling, B., Caldon, L., Callen, D., Chauhan, D., Eisenbruch, M., Heiniger, L., Chauhan, M., Christian, A., Dixon, J., Kidd, A., Cohen, P., Colley, A., Fenton, G., Crook, A., Dickson, R., Field, M., Cui, J., Cummings, M., Dawson, S. -J., Defazio, A., Delatycki, M., Dudding, T., Edkins, T., Farshid, G., Flanagan, J., Fong, P., Forrest, L., Gallego-Ortega, D., George, P., Gill, G., Kollias, J., Haan, E., Hart, S., Jenkins, M., Hunt, C., Lakhani, S., Lipton, L., Lobb, L., Mann, G., Mclachlan, S. A., O'Connell, S., O'Sullivan, S., Pieper, E., Robinson, B., Saunus, J., Scott, E., Shelling, A., Williams, R., Young, M. A., Isaacs, C., Jakimovska, M., Jakubowska, A., James, P., Janavicius, R., Janni, W., John, E. M., Jones, M. E., Jung, A., Kaaks, R., Karlan, B. Y., Khusnutdinova, E., Kitahara, C. M., Konstantopoulou, I., Koutros, S., Kraft, P., Lambrechts, D., Lazaro, C., Le Marchand, L., Lester, J., Lesueur, F., Lilyquist, J., Loud, J. T., K. H., Lu, Luben, R. N., Lubinski, J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martens, J. W. M., Maurer, T., Mavroudis, D., Mebirouk, N., Meindl, A., Menon, U., Miller, A., Montagna, M., Nathanson, K. L., Neuhausen, S. L., Newman, W. G., Nguyen-Dumont, T., Nielsen, F. C., Nielsen, S., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Olshan, A. F., Olson, J. E., Olsson, H., Osorio, A., Ottini, L., Peissel, B., Peixoto, A., Peto, J., Plaseska-Karanfilska, D., Pocza, T., Presneau, N., Pujana, M. A., Punie, K., Rack, B., Rantala, J., Rashid, M. U., Rau-Murthy, R., Rennert, G., Lejbkowicz, F., Rhenius, V., Romero, A., Rookus, M. A., Ross, E. A., Rossing, M., Rudaitis, V., Ruebner, M., Saloustros, E., Sanden, K., Santamarina, M., Scheuner, M. T., Schmutzler, R. K., Schneider, M., Senter, L., Shah, M., Sharma, P., Shu, X. -O., Simard, J., Singer, C. F., Sohn, C., Soucy, P., Southey, M. C., Spinelli, J. J., Steele, L., Stoppa-Lyonnet, D., Tapper, W. J., Teixeira, M. R., Terry, M. B., Thomassen, M., Thompson, J., Thull, D. L., Tischkowitz, M., Tollenaar, R. A. E. M., Torres, D., Troester, M. A., Truong, T., Tung, N., Untch, M., Vachon, C. M., van Rensburg, E. J., van Veen, E. M., Vega, A., Viel, A., Wappenschmidt, B., Weitzel, J. N., Wendt, C., Wieme, G., Wolk, A., Yang, X. R., Zheng, W., Ziogas, A., Zorn, K. K., Dunning, A. M., Lush, M., Wang, Q., Mcguffog, L., Parsons, M. T., Pharoah, P. D. P., Fostira, F., Toland, A. E., Andrulis, I. L., Ramus, S. J., Swerdlow, A. J., Greene, M. H., Chung, W. K., Milne, R. L., Chenevix-Trench, G., Dork, T., Schmidt, M. K., Easton, D. F., Radice, P., Hahnen, E., Antoniou, A. C., Couch, F. J., Nevanlinna, H., Surralles, J., Peterlongo, P.

Publikováno v: npj Breast Cancer, 5:38. Nature Publishing Group
npj Breast Cancer
npj Breast Cancer, Nature, 2019, 5 (1), ⟨10.1038/s41523-019-0127-5⟩
Dipòsit Digital de la UB
Universidad de Barcelona
ABCTB Investigators, GEMO Study Collaborators & kConFab 2019, ' The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer ', npj Breast Cancer, vol. 5, no. 1, 38 . https://doi.org/10.1038/s41523-019-0127-5
Scientia
Recercat. Dipósit de la Recerca de Catalunya
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
NPJ Breast Cancer
npj Breast Cancer, 5. NATURE PUBLISHING GROUP
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Figlioli, G, Bogliolo, M, Catucci, I, Caleca, L, Lasheras, S V, Pujol, R, Kiiski, J I, Muranen, T A, Barnes, D R, Dennis, J, Michailidou, K, Bolla, M K, Leslie, G, Aalfs, C M, ABCTB Investigators, Adank, M A, Adlard, J, Agata, S, Cadoo, K, Agnarsson, B A, Ahearn, T, Aittomäki, K, Ambrosone, C B, Andrews, L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Arnold, N, Aronson, K J, Arun, B K, Asseryanis, E, Auber, B, Bojesen, A, Nielsen, F C, Nielsen, S, GEMO Study Collaborators & KConFab 2019, ' The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer ', npj Breast Cancer, vol. 5, 38 . https://doi.org/10.1038/s41523-019-0127-5
npj Breast Cancer, 2019, 5 (1), ⟨10.1038/s41523-019-0127-5⟩
npj Breast Cancer, 5(1):38. Nature Publishing Group
Figlioli, G, Bogliolo, M, Catucci, I, Caleca, L, Lasheras, S V, Pujol, R, Kiiski, J I, Muranen, T A, Barnes, D R, Dennis, J, Michailidou, K, Bolla, M K, Leslie, G, Aalfs, C M, Adank, M A, Adlard, J, Agata, S, Cadoo, K, Agnarsson, B A, Ahearn, T, Aittomäki, K, Ambrosone, C B, Andrews, L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Arnold, N, Aronson, K J, Arun, B K, Asseryanis, E, Auber, B, Auvinen, P, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Barwell, J, Beane Freeman, L E, Beauparlant, C J, Beckmann, M W, Behrens, S, Benitez, J, Berger, R, Bermisheva, M, Blanco, A M, Blomqvist, C, Bogdanova, N V, Bojesen, A, Bojesen, S E, Flyger, H, Nielsen, F C, Rossing, M, Thomassen, M & ABCTB Investigators 2019, ' The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer ', n p j Breast Cancer, vol. 5, 38 . https://doi.org/10.1038/s41523-019-0127-5
NPJ BREAST CANCER
2019, ' The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer ', NPJ Breast Cancer, vol. 5, pp. 38 . https://doi.org/10.1038/s41523-019-0127-5
Repisalud
Instituto de Salud Carlos III (ISCIII)
Npj Breast Cancer, Berlin : Nature research, 2019, vol. 5, art. no. 38, p. [1-14]
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
npj Breast Cancer, Vol 5, Iss 1, Pp 1-14 (2019)
ABCTB Investigators 2019, ' The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer ', NPJ Breast Cancer, vol. 5, pp. 38 . https://doi.org/10.1038/s41523-019-0127-5

Publisher's version (útgefin grein)
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b159f78d5d27f1c62cb303dfeebedf
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-397654

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.