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Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mut...

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Autores principales: Kuchenbaecker, Karoline B., McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Soucy, Penny, Healey, Sue, Dennis, Joe, Lush, Michael, Robson, Mark, Spurdle, Amanda B., Ramus, Susan J., Mavaddat, Nasim, Terry, Mary Beth, Neuhausen, Susan L., Hamann, Ute, Southey, Melissa, John, Esther M., Chung, Wendy K., Daly, Mary B., Buys, Saundra S., Goldgar, David E., Dorfling, Cecilia M., van Rensburg, Elizabeth J., Ding, Yuan Chun, Ejlertsen, Bent, Gerdes, Anne-Marie, Hansen, Thomas V. O., Slager, Susan, Hallberg, Emily, Benitez, Javier, Osorio, Ana, Cohen, Nancy, Lawler, William, Weitzel, Jeffrey N., Peterlongo, Paolo, Pensotti, Valeria, Dolcetti, Riccardo, Barile, Monica, Bonanni, Bernardo, Azzollini, Jacopo, Manoukian, Siranoush, Peissel, Bernard, Radice, Paolo, Savarese, Antonella, Papi, Laura, Giannini, Giuseppe, Fostira, Florentia, Konstantopoulou, Irene, Adlard, Julian, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Eccles, Diana, Eeles, Ros, Ellis, Steve, Frost, Debra, Hodgson, Shirley, Izatt, Louise, Lalloo, Fiona, Ong, Kai-ren, Godwin, Andrew K., Arnold, Norbert, Dworniczak, Bernd, Engel, Christoph, Gehrig, Andrea, Hahnen, Eric, Hauke, Jan, Kast, Karin, Meindl, Alfons, Niederacher, Dieter, Schmutzler, Rita Katharina, Varon-Mateeva, Raymonda, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Barjhoux, Laure, Collonge-Rame, Marie-Agnès, Elan, Camille, Golmard, Lisa, Barouk-Simonet, Emmanuelle, Lesueur, Fabienne, Mazoyer, Sylvie, Sokolowska, Joanna, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Claes, Kathleen B. M., Poppe, Bruce, de la Hoya, Miguel, Garcia-Barberan, Vanesa, Aittomäki, Kristiina, Nevanlinna, Heli, Ausems, Margreet G. E. M., de Lange, J. L., Gómez Garcia, Encarna B., Hogervorst, Frans B. L., Kets, Carolien M., Meijers-Heijboer, Hanne E. J., Oosterwijk, Jan C., Rookus, Matti A., van Asperen, Christi J., van den Ouweland, Ans M. W., van Doorn, Helena C., van Os, Theo A. M., Kwong, Ava, Olah, Edith, Diez, Orland, Brunet, Joan, Lazaro, Conxi, Teulé, Alex, Gronwald, Jacek, Jakubowska, Anna, Kaczmarek, Katarzyna, Lubinski, Jan, Sukiennicki, Grzegorz, Barkardottir, Rosa B., Chiquette, Jocelyne, Agata, Simona, Montagna, Marco, Teixeira, Manuel R., Park, Sue Kyung, Olswold, Curtis, Tischkowitz, Marc, Foretova, Lenka, Gaddam, Pragna, Vijai, Joseph, Pfeiler, Georg, Rappaport-Fuerhauser, Christine, Singer, Christian F., Tea, Muy-Kheng M., Greene, Mark H., Loud, Jennifer T., Rennert, Gad, Imyanitov, Evgeny N., Hulick, Peter J., Hays, John L., Piedmonte, Marion, Rodriguez, Gustavo C., Martyn, Julie, Glendon, Gord, Mulligan, Anna Marie, Andrulis, Irene L., Toland, Amanda Ewart, Jensen, Uffe Birk, Kruse, Torben A., Pedersen, Inge Sokilde, Thomassen, Mads, Caligo, Maria A., Teo, Soo-Hwang, Berger, Raanan, Friedman, Eitan, Laitman, Yael, Arver, Brita, Borg, Ake, Ehrencrona, Hans, Rantala, Johanna, Olopade, Olufunmilayo I., Ganz, Patricia A., Nussbaum, Robert L., Bradbury, Angela R., Domchek, Susan M., Nathanson, Katherine L., Arun, Banu K., James, Paul, Karlan, Beth Y., Lester, Jenny, Simard, Jacques, Pharoah, Paul D. P., Offit, Kenneth, Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Antoniou, Antonis C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408990/
https://www.ncbi.nlm.nih.gov/pubmed/28376175
http://dx.doi.org/10.1093/jnci/djw302