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by 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
Published 2020
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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
by 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
Published 2020
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by 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.
Published 2019
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by Dörk, T., Peterlongo, P., Mannermaa, A., Bolla, M.K., Wang, Q., Dennis, J., Ahearn, T., Andrulis, I.L., Anton-Culver, H., Arndt, V., Aronson, K.J., Augustinsson, A., Freeman, L.E.B., Beckmann, M.W., Beeghly-Fadiel, A., Behrens, S., Bermisheva, M., Blomqvist, C., Bogdanova, N.V., Bojesen, S.E., Brauch, H., Brenner, H., Burwinkel, B., Canzian, F., Chan, T.L., Chang-Claude, J., Chanock, S.J., Choi, J.-Y., Christiansen, H., Clarke, C.L., Couch, F.J., Czene, K., Daly, M.B., dos-Santos-Silva, I., Dwek, M., Eccles, D.M., Ekici, A.B., Eriksson, M., Evans, D.G., Fasching, P.A., Figueroa, J., Flyger, H., Fritschi, L., Gabrielson, M., Gago-Dominguez, M., Gao, C., Gapstur, S.M., García-Closas, M., García-Sáenz, J.A., Gaudet, M.M., Giles, G.G., Goldberg, M.S., Goldgar, D.E., Guénel, P., Haeberle, L., Haiman, C.A., Håkansson, N., Hall, P., Hamann, U., Hartman, M., Hauke, J., Hein, A., Hillemanns, P., Hogervorst, F.B.L., Hooning, M.J., Hopper, J.L., Howell, T., Huo, D., Ito, H., Iwasaki, M., Jakubowska, A., Janni, W., John, E.M., Jung, A., Kaaks, R., Kang, D., Kapoor, P.M., Khusnutdinova, E., Kim, S.-W., Kitahara, C.M., Koutros, S., Kraft, P., Kristensen, V.N., Kwong, A., Lambrechts, D., Marchand, L.L., Li, J., Lindström, S., Linet, M., Lo, W.-Y., Long, J., Lophatananon, A., Lubi?ski, J., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, E., Matsuo, K., Mavroudis, D., Meindl, A., Menon, U., Milne, R.L., Mohd Taib, N.A., Muir, K., Mulligan, A.M., Neuhausen, S.L., Nevanlinna, H., Neven, P., Newman, W.G., Offit, K., Olopade, O.I., Olshan, A.F., Olson, J.E., Olsson, H., Park, S.K., Park-Simon, T.-W., Peto, J., Plaseska-Karanfilska, D., Pohl-Rescigno, E., Presneau, N., Rack, B., Radice, P., Rashid, M.U., Rennert, G., Rennert, H.S., Romero, A., Ruebner, M., Saloustros, E., Schmidt, M.K., Schmutzler, R.K., Schneider, M.O., Schoemaker, M.J., Scott, C., Shen, C.-Y., Shu, X.-O., Simard, J., Slager, S., Smichkoska, S., Southey, M.C., Spinelli, J.J., Stone, J., Surowy, H., Swerdlow, A.J., Tamimi, R.M., Tapper, W.J., Teo, S.H., Terry, M.B., Toland, A.E., Tollenaar, R.A.E.M., Torres, D., Torres-Mejía, G., Troester, M.A., Truong, T., Tsugane, S., Untch, M., Vachon, C.M., Ouweland, A.M.W., Veen, E.M., Vijai, J., Wendt, C., Wolk, A., Yu, J.-C., Zheng, W., Ziogas, A., Ziv, E., 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., Børresen-Dale, A.-L., Grenaker Alnæs, G.I., Sahlberg, K.K., Ottestad, L., Kåresen, R., Schlichting, E.
Published 2022
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by Bojesen, S.E., Pooley, K.A., Johnatty, S.E., Beesley, J., Michailidou, K., Tyrer, J.P., Edwards, S.L., Pickett, H.A., Shen, H.C., Smart, C.E., Hillman, K.M., Mai, P.L., Lawrenson, K., Stutz, M.D., Lu, Y., Karevan, R., Woods, N., Johnston, R.L., French, J.D., Chen, X., Weischer, M., Nielsen, S.F., Maranian, M.J., Ghoussaini, M., Ahmed, S., Baynes, C., Bolla, M.K., Wang, Q., Dennis, J., McGuffog, L., Barrowdale, D., Lee, A., Healey, S., Lush, M., Tessier, D.C., Vincent, D., Bacot, F., Vergote, I., Lambrechts, S., Despierre, E., Risch, H.A., González-Neira, A., Rossing, M.A., Pita, G., Doherty, J.A., Álvarez, N., Larson, M.C., Fridley, B.L., Schoof, N., Chang-Claude, J., Cicek, M.S., Peto, J., Kalli, K.R., Broeks, A., Armasu, S.M., Schmidt, M.K., Braaf, L.M., Winterhoff, B., Nevanlinna, H., Konecny, G.E., Lambrechts, D., Rogmann, L., Guénel, P., Teoman, A., Milne, R.L., Garcia, J.J., Cox, A., Shridhar, V., Burwinkel, B., Marme, F., Hein, R., Sawyer, E.J., Haiman, C.A., Wang-Gohrke, S., Andrulis, I.L., Moysich, K.B., Hopper, J.L., Odunsi, K., Lindblom, A., Giles, G.G., Brenner, H., Simard, J., Lurie, G., Fasching, P.A., Carney, M.E., Radice, P., Wilkens, L.R., Swerdlow, A., Goodman, M.T., Brauch, H., Garcia-Closas, M., Hillemanns, P., Winqvist, R., Dürst, M., Devilee, P., Runnebaum, I., Jakubowska, A., Lubinski, J., Mannermaa, A., Butzow, R., Bogdanova, N.V., Dörk, T., Pelttari, L.M., Zheng, W., Leminen, A., Anton-Culver, H., Bunker, C.H., Kristensen, V., Ness, R.B., Muir, K., Edwards, R., Meindl, A., Heitz, F., Matsuo, K., Du Bois, A., Wu, A.H., Harter, P., Teo, S.-H., Schwaab, I., Shu, X.-O., Blot, W., Hosono, S., Kang, D., Nakanishi, T., Hartman, M., Yatabe, Y., Hamann, U., Karlan, B.Y., Sangrajrang, S., Kjaer, S.K., Gaborieau, V., Jensen, A., Eccles, D., Høgdall, E., Shen, C.-Y., Brown, J., Woo, Y.L., Shah, M., Azmi, M.A.N., Luben, R., Omar, S.Z., Czene, K., Vierkant, R.A., Nordestgaard, Bø.G., Flyger, H., Vachon, C., Olson, J.E., Wang, X., Levine, D.A., Rudolph, A., Weber, R.P., Flesch-Janys, D., Iversen, E., Nickels, S., Schildkraut, J.M., Silva, I.D.S., Cramer, D.W., Gibson, L., Terry, K.L., Fletcher, O., Vitonis, A.F., Van Der Schoot, C.E., Poole, E.M., Hogervorst, F.B.L., Tworoger, S.S., Liu, J., Bandera, E.V., Li, J., Olson, S.H., Humphreys, K., Orlow, I., Blomqvist, C., Rodriguez-Rodriguez, L., Aittomäki, K., Salvesen, H.B., Muranen, T.A., Wik, E., Brouwers, B., Krakstad, C., Wauters, E., Halle, M.K., Wildiers, H., Kiemeney, L.A., Mulot, C., Aben, K.K., Laurent-Puig, P., Altena, A.M., Truong, T., Massuger, L.F.A.G., Benitez, J., Pejovic, T., Perez, J.I.A., Hoatlin, M., Zamora, M.P., Cook, L.S., Balasubramanian, S.P., Kelemen, L.E., Schneeweiss, A., Le, N.D., Sohn, C., Brooks-Wilson, A., Tomlinson, I., Kerin, M.J., Miller, N., Cybulski, C., Henderson, B.E., Menkiszak, J., Schumacher, F., Wentzensen, N., Le Marchand, L., Yang, H.P., Mulligan, A.M., Glendon, G., Engelholm, S.A., Knight, J.A., Høgdall, C.K., Apicella, C., Gore, M., Tsimiklis, H., Song, H., Southey, M.C., Jager, A., Den Ouweland, A.M.W., Brown, R., Martens, J.W.M., Flanagan, J.M., Kriege, M., Paul, J., Margolin, S., Siddiqui, N., Severi, G., Whittemore, A.S., Baglietto, L., McGuire, V., Stegmaier, C., Sieh, W., Müller, H., Arndt, V., Labrèche, F., Gao, Y.-T., Goldberg, M.S., Yang, G., Dumont, M., McLaughlin, J.R., Hartmann, A., Ekici, A.B., Beckmann, M.W., Phelan, C.M., Lux, M.P., Permuth-Wey, J., Peissel, B., Sellers, T.A., Ficarazzi, F., Barile, M., Ziogas, A., Ashworth, A., Gentry-Maharaj, A., Jones, M., Ramus, S.J., Orr, N., Menon, U., Pearce, C.L., Brüning, T., Pike, M.C., Ko, Y.-D., Lissowska, J., Figueroa, J., Kupryjanczyk, J., Chanock, S.J., Dansonka-Mieszkowska, A., Jukkola-Vuorinen, A., Rzepecka, I.K., Pylkäs, K., Bidzinski, M., Kauppila, S., Hollestelle, A., Seynaeve, C., Tollenaar, R.A.E.M., Durda, K., Jaworska, K., Hartikainen, J.M., Kosma, V.-M., Kataja, V., Antonenkova, N.N., Long, J., Shrubsole, M., Deming-Halverson, S., Lophatananon, A., Siriwanarangsan, P., Stewart-Brown, S., Ditsch, N., Lichtner, P., Schmutzler, R.K., Ito, H., Iwata, H., Tajima, K., Tseng, C.-C., Stram, D.O., Van Den Berg, D., Yip, C.H., Ikram, M.K., Teh, Y.-C., Cai, H., Lu, W., Signorello, L.B., Cai, Q., Noh, D.-Y., Yoo, K.-Y., Miao, H., Iau, P.T.-C., Teo, Y.Y., McKay, J., Shapiro, C., Ademuyiwa, F., Fountzilas, G., Hsiung, C.-N., Yu, J.-C., Hou, M.-F., Healey, C.S., Luccarini, C., Peock, S., Stoppa-Lyonnet, D., Peterlongo, P., Rebbeck, T.R., Piedmonte, M., Singer, C.F., Friedman, E., Thomassen, M., Offit, K., Hansen, T.V.O., Neuhausen, S.L., Szabo, C.I., Blanco, I., Garber, J., Narod, S.A., Weitzel, J.N., Montagna, M., Olah, E., Godwin, A.K., Yannoukakos, D., Goldgar, D.E., Caldes, T., Imyanitov, E.N., Tihomirova, L., Arun, B.K., Campbell, I., Mensenkamp, A.R., Van Asperen, C.J., Van Roozendaal, K.E.P., Meijers-Heijboer, H., Collée, J.M., Oosterwijk, J.C., Hooning, M.J., Rookus, M.A., Van Der Luijt, R.B., Os, T.A.M., Evans, D.G., Frost, D., Fineberg, E., Barwell, J., Walker, L., Kennedy, M.J., Platte, R., Davidson, R., Ellis, S.D., Cole, T., Bressac-De Paillerets, B., Buecher, B., Damiola, F., Faivre, L., Frenay, M., Sinilnikova, O.M., Caron, O., Giraud, S., Mazoyer, S., Bonadona, V., Caux-Moncoutier, V., Toloczko-Grabarek, A., Gronwald, J., Byrski, T., Spurdle, A.B., Bonanni, B., Zaffaroni, D., Giannini, G., Bernard, L., Dolcetti, R., Manoukian, S., Arnold, N., Engel, C., Deissler, H., Rhiem, K., Niederacher, D., Plendl, H., Sutter, C., Wappenschmidt, B., Borg, Å., Melin, B., Rantala, J., Soller, M., Nathanson, K.L., Domchek, S.M., Rodriguez, G.C., Salani, R., Kaulich, D.G., Tea, M.-K., Paluch, S.S., Laitman, Y., Skytte, A.-B., Kruse, T.A., Jensen, U.B., Robson, M., Gerdes, A.-M., Ejlertsen, B., Foretova, L., Savage, S.A., Lester, J., Soucy, P., Kuchenbaecker, K.B., Olswold, C., Cunningham, J.M., Slager, S., Pankratz, V.S., Dicks, E., Lakhani, S.R., Couch, F.J., Hall, P., Monteiro, A.N.A., Gayther, S.A., Pharoah, P.D.P., Reddel, R.R., Goode, E.L., Greene, M.H., Easton, D.F., Berchuck, A., Antoniou, A.C., Chenevix-Trench, G., Dunning, A.M.
Published 2014
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