Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Autor: Im, Kate M., Kirchhoff, Tomas, Wang, Xianshu, Green, Todd, Chow, Clement Y., Vijai, Joseph, Korn, Joshua, Gaudet, Mia M., Fredericksen, Zachary, Pankratz, V. Shane, Guiducci, Candace, Crenshaw, Andrew, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Mai, Phuong L., Greene, Mark H., Piedmonte, Marion, Rubinstein, Wendy S., Hogervorst, Frans B. L., Rookus, Matti A., Collee, Margriet J., Hoogerbrugge, Nicoline, van Asperen, Christi J., Meijers-Heijboer, Hanne E. J., van Roozendaal, Cees E., Caldes, Trinidad, Perez Segura, Pedro, Jakubowska, Anna, Lubinski, Jan, Huzarski, Tomasz, Blecharz, Pawel, Nevanlinna, Heli, Aittomaki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Barkardottir, Rosa B., Montagna, Marco, D'Andrea, Emma, Devilee, Peter, Olopade, Olufunmilayo I., Neuhausen, Susan L., Peissel, Bernard, Bonanni, Bernardo, Peterlongo, Paolo, Singer, Christian F., Rennert, Gad, Lejbkowicz, Flavio, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda Ewart, Caligo, Maria Adelaide, Beattie, Mary S., Chan, Salina B., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Phelan, Catherine M., Narod, Steven A., John, Esther M., Hopper, John L., Buys, Saundra, Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Duran, Mercedes, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Platte, Radka, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Paterson, Joan, Brewer, Carole, Hodgson, Shirley V., Morrison, Patrick J., Porteous, Mary E., Walker, Lisa, Rogers, Mark T., Side, Lucy E., Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Laitman, Yael, Meindl, Alfons, Deissler, Helmut, Varon-Mateeva, Raymonda, Preisler-Adams, Sabine, Kast, Karin, Venat-Bouvet, Laurence, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F., Klein, Robert J., Daly, Mark J., Friedman, Eitan, Dean, Michael, Clark, Andrew G., Altshuler, David M., Antoniou, Antonis C., Couch, Fergus J., Offit, Kenneth, Gomez Garcia, Encarna, Blok, Marinus, Gold, Bert

Publikováno v: Human Genetics
Human Genetics, Springer Verlag, 2011, 130 (5), pp.685-99. 〈10.1007/s00439-011-1003-z〉
Human Genetics, Springer Verlag, 2011, 130 (5), pp.685-99. ⟨10.1007/s00439-011-1003-z⟩
Human Genetics, 130(5), 685-699. Springer
Im, K M, Kirchhoff, T, Wang, X S, Green, T, Chow, C Y, Vijai, J, Korn, J, Gaudet, M M, Fredericksen, Z, Pankratz, V S, Guiducci, C, Crenshaw, A, McGuffog, L, Kartsonaki, C, Morrison, J, Healey, S, Sinilnikova, O M, Mai, P L, Greene, M H, Piedmonte, M, Rubinstein, W S, Hogervorst, FB, Rookus, M A, Collee, J M, Hoogerbrugge, N, van Asperen, C J, Meijers-Heijboer, E J, van Roozendaal, C E, Caldes, T, Perez-Segura, P, Jakubowska, A, Lubinski, J, Huzarski, T, Blecharz, P, Nevanlinna, H, Aittomaki, K, Lazaro, C, Blanco, I, Barkardottir, R B, Montagna, M, D'Andrea, E, Devilee, P, Olopade, O I, Neuhausen, S L, Peissel, B, Bonanni, B, Peterlongo, P, Singer, C F, Rennert, G, Lejbkowicz, F, Andrulis, I L, Glendon, G, Ozcelik, H, Toland, A E, Caligo, M A, Beattie, M S, Chan, S, Domchek, S M, Nathanson, K L, Rebbeck, T R, Phelan, C, Narod, S, John, E M, Hopper, J L, Buys, S S, Daly, M B, Southey, M C, Terry, M B, Tung, N, Hansen, T V O, Osorio, A, Benitez, J, Duran, M, Weitzel, J N, Garber, J, Hamann, U, Peock, S, Cook, M, Oliver, C T, Frost, D, Platte, R, Evans, D G, Eeles, R, Izatt, L, Paterson, J, Brewer, C, Hodgson, S, Morrison, P J, Porteous, M, Walker, L, Rogers, M T, Side, L E, Godwin, A K, Schmutzler, R K, Wappenschmidt, B, Laitman, Y, Meindl, A, Deissler, H & Varon-Mateeva, R 2011, ' Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers ', Human Genetics, vol. 130, no. 5, pp. 685-699 . https://doi.org/10.1007/s00439-011-1003-z
Human Genetics, 130, 685-99
Human genetics, 130(5), 685-699. Springer Verlag
Recercat. Dipósit de la Recerca de Catalunya
instname
Digital.CSIC. Repositorio Institucional del CSIC
Human Genetics, 130(5), 685-699. Springer-Verlag
Dipòsit Digital de la UB
Universidad de Barcelona
Human Genetics, 130(5), 685-699
Human Genetics, 130(5), 685-699. Springer Verlag
Human Genetics, 130, 5, pp. 685-99

Three founder mutations in BRCA1 and BRCA2 contribute to the risk of hereditary breast and ovarian cancer in Ashkenazi Jews (AJ). They are observed at increased frequency in the AJ compared to other BRCA mutations in Caucasian non-Jews (CNJ). Several

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b76209a3052a1556a0f6f989a4c88d4
https://hal.archives-ouvertes.fr/hal-00837832