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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

(2018) HUMAN MUTATION. 39(5). p.593-620


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Rebbeck, Timothy R, Tara M Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, et al. 2018. “Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations.” Human Mutation 39 (5): 593–620.
Rebbeck, T. R., Friebel, T. M., Friedman, E., Hamann, U., Huo, D., Kwong, A., Olah, E., et al. (2018). Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. HUMAN MUTATION, 39(5), 593–620.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, et al. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. HUMAN MUTATION. 2018;39(5):593–620.
Rebbeck, Timothy R, Tara M Friebel, Eitan Friedman, et al. “Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations.” HUMAN MUTATION 39.5 (2018): 593–620. Print.
  author       = {Rebbeck, Timothy R and Friebel, Tara M and Friedman, Eitan and Hamann, Ute and Huo, Dezheng and Kwong, Ava and Olah, Edith and Olopade, Olufunmilayo I. and Solano, Angela R and Teo, Soo-Hwang and Thomassen, Mads and Weitzel, Jeffrey N. and Chan, TL and Couch, Fergus J and Goldgar, David E and Kruse, Torben A and Palmero, Edenir In{\^e}z and Park, Sue Kyung and Torres, Diana and van Rensburg, Elizabeth J and McGuffog, Lesley and Parsons, Michael T and Leslie, Goska and Aalfs, Cora M and Abugattas, Julio and Adlard, Julian and Agata, Simona and Aittom{\"a}ki, Kristiina and Andrews, Lesley and Andrulis, Irene L and Arason, Adalgeir and Arnold, Norbert and Arun, Banu K and Asseryanis, Ella and Auerbach, Leo and Azzollini, Jacopo and Balma{\~n}a, Judith and Barile, Monica and Barkardottir, Rosa B and Barrowdale, Daniel and Benitez, Javier and Berger, Andreas and Berger, Raanan and Blanco, Amie M and Blazer, Kathleen R and Blok, Marinus J and Bonadona, Val{\'e}rie and Bonanni, Bernardo and Bradbury, Angela R and Brewer, Carole and Buecher, Bruno and Buys, Saundra S and Caldes, Trinidad and Caliebe, Almuth and Caligo, Maria A and Campbell, Ian and Caputo, Sandrine M and Chiquette, Jocelyne and Chung, Wendy K and Claes, Kathleen and Coll{\'e}e, J Margriet and Cook, Jackie and Davidson, Rosemarie and de la Hoya, Miguel and De Leeneer, Kim and de Pauw, Antoine and Delnatte, Capucine and Diez, Orland and Ding, Yuan Chun and Ditsch, Nina and Domchek, Susan M and Dorfling, Cecilia M and Velazquez, Carolina and Dworniczak, Bernd and Eason, Jacqueline and Easton, Douglas F and Eeles, Ros and Ehrencrona, Hans and Ejlertsen, Bent and Engel, Christoph and Engert, Stefanie and Evans, D Gareth and Faivre, Laurence and Feliubadal{\'o}, Lidia and Ferrer, Sandra Fert and Foretova, Lenka and Fowler, Jeffrey and Frost, Debra and Galv{\~a}o, Henrique CR and Ganz, Patricia A. and Garber, Judy and Gauthier-Villars, Marion and Gehrig, Andrea and Gerdes, Anne-Marie and Gesta, Paul and Giannini, Giuseppe and Giraud, Sophie and Glendon, Gord and Godwin, Andrew K and Greene, Mark H and Gronwald, Jacek and Gutierrez-Barrera, Angelica and Hahnen, Eric and Hauke, Jan and Henderson, Alex and Hentschel, Julia and Hogervorst, Frans BL and Honisch, Ellen and Imyanitov, Evgeny N and Isaacs, Claudine and Izatt, Louise and Izquierdo, Angel and Jakubowska, Anna and James, Paul and Janavicius, Ramunas and Jensen, Uffe Birk and John, Esther M and Vijai, Joseph and Kaczmarek, Katarzyna and Karlan, Beth Y and Kast, Karin and Investigators, KConFab and Kim, Sung-Won and Konstantopoulou, Irene and Korach, Jacob and Laitman, Yael and Lasa, Adriana and Lasset, Christine and L{\'a}zaro, Conxi and Lee, Annette and Lee, Min Hyuk and Lester, Jenny and Lesueur, Fabienne and Liljegren, Annelie and Lindor, Noralane M and Longy, Michel and Loud, Jennifer T and Lu, Karen H and Lubinski, Jan and Machackova, Eva and Manoukian, Siranoush and Mari, V{\'e}ronique and Mart{\'i}nez-Bouzas, Cristina and Matrai, Zoltan and Mebirouk, Noura and Meijers-Heijboer, Hanne EJ and Meindl, Alfons and Mensenkamp, Arjen R and Mickys, Ugnius and Miller, Austin and Montagna, Marco and Moysich, Kirsten B and Mulligan, Anna Marie and Musinsky, Jacob and Neuhausen, Susan L and Nevanlinna, Heli and Ngeow, Joanne and Nguyen, Huu Phuc and Niederacher, Dieter and Nielsen, Henriette Roed and Nielsen, Finn Cilius and Nussbaum, Robert L and Offit, Kenneth and {\"O}fverholm, Anna and Ong, Kai-ren and Osorio, Ana and Papi, Laura and Papp, Janos and Pasini, Barbara and Pedersen, Inge Sokilde and Peixoto, Ana and Peruga, Nina and Peterlongo, Paolo and Pohl, Esther and Pradhan, Nisha and Prajzendanc, Karolina and Prieur, Fabienne and Pujol, Pascal and Radice, Paolo and Ramus, Susan J and Rantala, Johanna and Rashid, Muhammad Usman and Rhiem, Kerstin and Robson, Mark and Rodriguez, Gustavo C and Rogers, Mark T and Rudaitis, Vilius and Schmidt, Ane Y and Schmutzler, Rita Katharina and Senter, Leigha and Shah, Payal D and Sharma, Priyanka and Side, Lucy E and Simard, Jacques and Singer, Christian F and Skytte, Anne-Bine and Slavin, Thomas P and Snape, Katie and Sobol, Hagay and Southey, Melissa and Steele, Linda and Steinemann, Doris and Sukiennicki, Grzegorz and Sutter, Christian and Szabo, Csilla I and Tan, Yen Y and Teixeira, Manuel R and Terry, Mary Beth and Teul{\'e}, Alex and Thomas, Abigail and Thull, Darcy L and Tischkowitz, Marc and Tognazzo, Silvia and Toland, Amanda Ewart and Topka, Sabine and Trainer, Alison H and Tung, Nadine and van Asperen, Christi J and van der Hout, Annemieke H and van der Kolk, Lizet E and van der Luijt, Rob B and Van Heetvelde, Mattias and Varesco, Liliana and Varon-Mateeva, Raymonda and Vega, Ana and Villarreal-Garza, Cynthia and von Wachenfeldt, Anna and Walker, Lisa and Wang-Gohrke, Shan and Wappenschmidt, Barbara and Weber, Bernhard HF and Yannoukakos, Drakoulis and Yoon, Sook-Yee and Zanzottera, Cristina and Zidan, Jamal and Zorn, Kristin K and Hutten Selkirk, Christina G and Hulick, Peter J and Chenevix-Trench, Georgia and Spurdle, Amanda B and Antoniou, Antonis C and Nathanson, Katherine L},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  language     = {eng},
  number       = {5},
  pages        = {593--620},
  title        = {Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations},
  url          = {},
  volume       = {39},
  year         = {2018},

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