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

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, SV, Pujol, R, Kiiski, JI, Muranen, TA, Barnes, DR, Dennis, J, Michailidou, K, Bolla, MK, Leslie, G, Aalfs, CM, Balleine, R, Baxter, R, Braye, S, Carpenter, J, Dahlstrom, J, Forbes, J, Lee, CS, Marsh, D, Morey, A, Pathmanathan, N, Scott, R, Simpson, P, Spigelman, A, Wilcken, N, Yip, D, Zeps, N, Adank, MA, Adlard, J, Agata, S, Cadoo, K, Agnarsson, BA, Ahearn, T, Aittomäki, K, Ambrosone, CB, Andrews, L, Anton-Culver, H, Antonenkova, NN, Arndt, V, Arnold, N, Aronson, KJ, Arun, BK, Asseryanis, E, Auber, B, Auvinen, P, Azzollini, J, Balmaña, J, Barkardottir, RB, Barrowdale, D, Barwell, J, Beane Freeman, LE, Beauparlant, CJ, Beckmann, MW, Behrens, S, Benitez, J, Berger, R, Bermisheva, M, Blanco, AM, Blomqvist, C, Bogdanova, NV, Bojesen, A, Bojesen, SE, Bonanni, B, Borg, A, Brady, AF, Brauch, H, Brenner, H, Brüning, T, Burwinkel, B, Buys, SS, Caldés, T, Caliebe, A, Caligo, MA, Campa, D, Campbell, IG, Canzian, F, Castelao, JE, Chang-Claude, J, Chanock, SJ, Claes, KBM, Clarke, CL, Collavoli, A, Conner, TA, Cox, DG, Cybulski, C, Czene, K, Daly, MB, de la Hoya, M, Devilee, P, Diez, O, Ding, YC, Dite, GS, Ditsch, N, Domchek, SM, Dorfling, CM, dos-Santos-Silva, I, Durda, K

© 2019, The Author(s). 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, which encodes for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______363::1eca2560382e9f722375dae0ae46daba
https://hdl.handle.net/10453/137862

The multispectral thermal airborne TASI-600 survey to map serpentinites outcrops in the San Severino area (Italy): preliminary results

Autor: Pignatti, S., Bogliolo, M. P., Buongiorno, F., Despini, F., Ionca, V., Musacchio, M., Palombo, A., Panigada, C., Pascucci, S., Santini, F., Silvestri, M., Teggi, S.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3686::faec2ea4f8b93c0cf5ebc3f3878b94bd
http://hdl.handle.net/11573/1362913

La tutela dei lavoratori nei siti contaminati da sostanze pericolose

Autor: Berardi, S., Bogliolo, M. P., Ledda, A., Campanari, S., Mangiapia, M. D., Mauro, F.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3686::b4cb04001f088be41809c17abcf20849
http://hdl.handle.net/11573/1569736

Biallelic truncating &ITFANCM&IT mutations cause early-onset cancer but not Fanconi anemia

Autor: Bogliolo, M, Bluteau, D, Lespinasse, J, Pujol, R, Vasquez, N, d'Enghien, CD, Stoppa-Lyonnet, D, Leblanc, T, Soulier, J, Surralles, J

Publikováno v: GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Purpose: Mutations in genes involved in Fanconi anemia (FA)/ BRCA DNA repair pathway cause cancer susceptibility diseases including familial breast cancer and Fanconi anemia (FA). A single FA patient with biallelic FANCM mutations was reported in 200

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::caf7c39689728279aa623d4cc5c6d49d
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3814