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由 Colombo, M, Lòpez-Perolio, I, Meeks, H.D, Caleca, L, Parsons, M.T, Li, H, De Vecchi, G, Tudini, E, Foglia, C, Mondini, P, Manoukian, S, Behar, R, Garcia, E.B.G, Meindl, A, Montagna, M, Niederacher, D, Schmidt, A.Y, Varesco, L, Wappenschmidt, B, Bolla, M.K, Dennis, J, Michailidou, K, Wang, Q, Aittomäki, K, Andrulis, I.L, Anton-Culver, H, Arndt, V, Beckmann, M.W, Beeghly-Fadel, A, Benitez, J, Boeckx, B, Bogdanova, N.V, Bojesen, S.E, Bonanni, B, Brauch, H, Brenner, H, Burwinkel, B, Chang-Claude, J, Conroy, D.M, Couch, F.J, Cox, A, Cross, S.S, Czene, K, Devilee, P, Dörk, T, Eriksson, M, Fasching, P.A, Figueroa, J, Fletcher, O, Flyger, H, Gabrielson, M, García-Closas, M, Giles, G.G, González-Neira, A, Guénel, P, Haiman, C.A, Hall, P, Hamann, U, Hartman, M, Hauke, J, Hollestelle, A, Hopper, J.L, Jakubowska, A, Jung, A, Kosma, V.-M, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubinski, J, Mannermaa, A, Margolin, S, Miao, H, Milne, R.L, Neuhausen, S.L, Nevanlinna, H, Olson, J.E, Peterlongo, P, Peto, J, Pylkäs, K, Sawyer, E.J, Schmidt, M.K, Schmutzler, R.K, Schneeweiss, A, Schoemaker, M.J, See, M.H, Southey, M.C, Swerdlow, A, Teo, S.H, Toland, A.E, Tomlinson, I, Truong, T, van Asperen, C.J, van den Ouweland, A.M.W, van der Kolk, L.E, Winqvist, R, Yannoukakos, D, Zheng, W, Dunning, A.M, Easton, D.F, Henderson, A, Hogervorst, F.B.L, Izatt, L, Offitt, K, Side, L.E, van Rensburg, E.J, Embrace, S, Hebon, S, McGuffog, L, Antoniou, A.C, Chenevix-Trench, G, Spurdle, A.B, Goldgar, D.E, Hoya, M.D.L, Radice, P, kConFab/AOCS Investigators, Seah, S, Nimmrichter, S, Scarani, V
出版 2020
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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
由 Colombo, M, Lòpez-Perolio, I, Meeks, H.D, Caleca, L, Parsons, M.T, Li, H, De Vecchi, G, Tudini, E, Foglia, C, Mondini, P, Manoukian, S, Behar, R, Garcia, E.B.G, Meindl, A, Montagna, M, Niederacher, D, Schmidt, A.Y, Varesco, L, Wappenschmidt, B, Bolla, M.K, Dennis, J, Michailidou, K, Wang, Q, Aittomäki, K, Andrulis, I.L, Anton-Culver, H, Arndt, V, Beckmann, M.W, Beeghly-Fadel, A, Benitez, J, Boeckx, B, Bogdanova, N.V, Bojesen, S.E, Bonanni, B, Brauch, H, Brenner, H, Burwinkel, B, Chang-Claude, J, Conroy, D.M, Couch, F.J, Cox, A, Cross, S.S, Czene, K, Devilee, P, Dörk, T, Eriksson, M, Fasching, P.A, Figueroa, J, Fletcher, O, Flyger, H, Gabrielson, M, García-Closas, M, Giles, G.G, González-Neira, A, Guénel, P, Haiman, C.A, Hall, P, Hamann, U, Hartman, M, Hauke, J, Hollestelle, A, Hopper, J.L, Jakubowska, A, Jung, A, Kosma, V.-M, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubinski, J, Mannermaa, A, Margolin, S, Miao, H, Milne, R.L, Neuhausen, S.L, Nevanlinna, H, Olson, J.E, Peterlongo, P, Peto, J, Pylkäs, K, Sawyer, E.J, Schmidt, M.K, Schmutzler, R.K, Schneeweiss, A, Schoemaker, M.J, See, M.H, Southey, M.C, Swerdlow, A, Teo, S.H, Toland, A.E, Tomlinson, I, Truong, T, van Asperen, C.J, van den Ouweland, A.M.W, van der Kolk, L.E, Winqvist, R, Yannoukakos, D, Zheng, W, Dunning, A.M, Easton, D.F, Henderson, A, Hogervorst, F.B.L, Izatt, L, Offitt, K, Side, L.E, van Rensburg, E.J, Embrace, S, Hebon, S, McGuffog, L, Antoniou, A.C, Chenevix-Trench, G, Spurdle, A.B, Goldgar, D.E, Hoya, M.D.L, Radice, P, kConFab/AOCS Investigators, Seah, S
出版 2020
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由 Maxwell C.A., Benítez J., Gómez-Baldó L., Osorio A., Bonifaci N., Fernández-Ramires R., Costes S.V., Guinó E., Chen H., Evans G.J.R., Mohan P., Català I., Petit A., Aguilar H., Villanueva A., Aytes A., Serra-Musach J., Rennert G., Lejbkowicz F., Peterlongo P., Manoukian S., Peissel B., Ripamonti C.B., Bonanni B., Viel A., Allavena A., Bernard L., Radice P., Friedman E., Kaufman B., Laitman Y., Dubrovsky M., Milgrom R., Jakubowska A., Cybulski C., Gorski B., Jaworska K., Durda K., Sukiennicki G., Lubi?ski J., Shugart Y.Y., Domchek S.M., Letrero R., Weber B.L., Hogervorst F.B.L., Rookus M.A., Collee J.M., Devilee P., Ligtenberg M.J., van der Luijt R.B., Aalfs C.M., Waisfisz Q., Wijnen J., van Roozendaal C.E.P., HEBON Hereditary Breast and Ovarian Cancer Group, EMBRACE Centre for Cancer Genetic Epidemiology, Easton D.F., Peock S., Cook M., Oliver C., Frost D., Harrington P., Lalloo F., Eeles R., Izatt L., Chu C., Eccles D., Douglas F., Brewer C., Nevanlinna H., Heikkinen T., Couch F.J., Wang X., Lindor N.M., Godwin A.K., Caligo M.A., Lombardi G., Loman N., Karlsson P., Ehrencrona H., von Wachenfeldt A., SWE-BRCA Swedish Breast Cancer Study, Barkardottir R., Hamann U., Rashid M.U., Lasa A., Caldés T., Andrés R., Schmitt M., Assmann V., Stevens K., Offit K., Curado J., Tilgner H., Guigó R., Aiza G., Brunet J., Martrat G., Urruticoechea A., Blanco I., Tihomirova L., Goldgar D.E., Buys S., John E.M., Miron A., Southey M., Daly M.B., BCFR Breast Cancer Family Registry, Schmutzler R.K., Wappenschmidt B., Meindl A., Arnold N., Deissler H., Varon-Mateeva R., Sutter C., Niederacher D., Imyamitov E., Sinilnikova O.M., Sinilnikova O.M., Stoppa-Lyonne D., Mazoyer S., Verny-Pierre C., Castera L., de Pauw A., Bignon Y.-J., Uhrhammer N., Peyrat J.-P., Vennin P., Ferrer S., Collonge-Rame M.-A., Mortemousque I., GEMO Study Collaborators GEMO Study, Spurdle A.B., Beesley J., Chen X., Healey S., Barcellos-Hoff M.H., Barcellos-Hoff M.H., Gruber S.B., Lázaro C., Capellá G., McGuffog L., Nathanson K.L., Chenevix-Trench G., Fleisch M.C., Moreno V., Pujana M.A.
出版 2019
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