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Cited by 312

The DOI matches its Crossref record; 65 of the 65 references it cites were found in a registry or an index.

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

Open access
Rebbeck, Timothy R., Friebel, Tara M., Friedman, Eitan, Hamann, Ute, Huo, Dezheng, Kwong, Ava, Olah, Edith, Olopade, Olufunmilayo I., Solano, Angela R., Teo, Soo-Hwang, Thomassen, Mads, Weitzel, Jeffrey N., Chan, TL, Couch, Fergus J., Goldgar, David E., Kruse, Torben A., Palmero, Edenir Inêz, Park, Sue Kyung, Torres, Diana, van Rensburg, Elizabeth J., McGuffog, Lesley, Parsons, Michael T., Leslie, Goska, Aalfs, Cora M., Abugattas, Julio, Adlard, Julian, Agata, Simona, Aittomäki, Kristiina, Andrews, Lesley, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo, Balmaña, Judith, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berger, Andreas, Berger, Raanan, Blanco, Amie M., Blazer, Kathleen R., Blok, Marinus J., Bonadona, Valérie, Bonanni, Bernardo, Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campbell, Ian, Caputo, Sandrine M., Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B.M., Collée, J. Margriet, Cook, Jackie, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., Velazquez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Ehrencrona, Hans, Ejlertsen, Bent, EMBRACE, Engel, Christoph, Engert, Stefanie, Evans, D. Gareth, Faivre, Laurence, Feliubadaló, Lidia, Ferrer, Sandra Fert, Foretova, Lenka, Fowler, Jeffrey, Frost, Debra, Galvão, Henrique C. R., Ganz, Patricia A., Garber, Judy, Gauthier-Villars, Marion, Gehrig, Andrea, GEMO Study Collaborators, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Greene, Mark H., Gronwald, Jacek, Gutierrez-Barrera, Angelica, Hahnen, Eric, Hauke, Jan, HEBON, Henderson, Alex, Hentschel, Julia, Hogervorst, Frans B.L., Honisch, Ellen, Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Vijai, Joseph, Kaczmarek, Katarzyna, Karlan, Beth Y., Kast, Karin, Investigators, KConFab, Kim, Sung-Won, Konstantopoulou, Irene, Korach, Jacob, Laitman, Yael, Lasa, Adriana, Lasset, Christine, Lázaro, Conxi, Lee, Annette, Lee, Min Hyuk, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Lindor, Noralane M., Longy, Michel, Loud, Jennifer T., Lu, Karen H., Lubinski, Jan, Machackova, Eva, Manoukian, Siranoush, Mari, Véronique, Martínez-Bouzas, Cristina, Matrai, Zoltan, Mebirouk, Noura, Meijers-Heijboer, Hanne E.J., Meindl, Alfons, Mensenkamp, Arjen R., Mickys, Ugnius, Miller, Austin, Montagna, Marco, Moysich, Kirsten B., Mulligan, Anna Marie, Musinsky, Jacob, Neuhausen, Susan L., Nevanlinna, Heli, Ngeow, Joanne, Nguyen, Huu Phuc, Niederacher, Dieter, Nielsen, Henriette Roed, Nielsen, Finn Cilius, Nussbaum, Robert L., Offit, Kenneth, Öfverholm, Anna, Ong, Kai-ren, Osorio, Ana, Papi, Laura, Papp, Janos, Pasini, Barbara, Pedersen, Inge Sokilde, Peixoto, Ana, Peruga, Nina, Peterlongo, Paolo, Pohl, Esther, Pradhan, Nisha, Prajzendanc, Karolina, Prieur, Fabienne, Pujol, Pascal, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad Usman, Rhiem, Kerstin, Robson, Mark, Rodriguez, Gustavo C., Rogers, Mark T., Rudaitis, Vilius, Schmidt, Ane Y., Schmutzler, Rita Katharina, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine, Slavin, Thomas P., Snape, Katie, Sobol, Hagay, Southey, Melissa, Steele, Linda, Steinemann, Doris, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I., Tan, Yen Y., Teixeira, Manuel R., Terry, Mary Beth, Teulé, Alex, Thomas, Abigail, Thull, Darcy L., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Topka, Sabine, Trainer, Alison H, Tung, Nadine, van Asperen, Christi J., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., Van Heetvelde, Mattias, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Villarreal-Garza, Cynthia, von Wachenfeldt, Anna, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard H. F., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zidan, Jamal, Zorn, Kristin K., Hutten Selkirk, Christina G., Hulick, Peter J., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C., Nathanson, Katherine L.·2018·Human Mutation
DOI 10.1002/humu.23406
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Abstract

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.

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Authors
Rebbeck, T. R., Friebel, T. M., Friedman, E., Hamann, U., Huo, D., Kwong, A., Olah, E., Olopade, O. I., Solano, A. R., Teo, S.-H., Thomassen, M., Weitzel, J. N., Chan, T., Couch, F. J., Goldgar, D. E., Kruse, T. A., Palmero, E. I., Park, S. K., Torres, D., van Rensburg, E. J., McGuffog, L., Parsons, M. T., Leslie, G., Aalfs, C. M., Abugattas, J., Adlard, J., Agata, S., Aittomäki, K., Andrews, L., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Asseryanis, E., Auerbach, L., Azzollini, J., Balmaña, J., Barile, M., Barkardottir, R. B., Barrowdale, D., Benitez, J., Berger, A., Berger, R., Blanco, A. M., Blazer, K. R., Blok, M. J., Bonadona, V., Bonanni, B., Bradbury, A. R., Brewer, C., Buecher, B., Buys, S. S., Caldes, T., Caliebe, A., Caligo, M. A., Campbell, I., Caputo, S. M., Chiquette, J., Chung, W. K., Claes, K. B. M., Collée, J. M., Cook, J., Davidson, R., de la Hoya, M., De Leeneer, K., de Pauw, A., Delnatte, C., Diez, O., Ding, Y. C., Ditsch, N., Domchek, S. M., Dorfling, C. M., Velazquez, C., Dworniczak, B., Eason, J., Easton, D. F., Eeles, R., Ehrencrona, H., Ejlertsen, B., EMBRACE, Engel, C., Engert, S., Evans, D. G., Faivre, L., Feliubadaló, L., Ferrer, S. F., Foretova, L., Fowler, J., Frost, D., Galvão, H. C. R., Ganz, P. A., Garber, J., Gauthier-Villars, M., Gehrig, A., Collaborators, G. S., Gerdes, A.-M., Gesta, P., Giannini, G., Giraud, S., Glendon, G., Godwin, A. K., Greene, M. H., Gronwald, J., Gutierrez-Barrera, A., Hahnen, E., Hauke, J., HEBON, Henderson, A., Hentschel, J., Hogervorst, F. B. L., Honisch, E., Imyanitov, E. N., Isaacs, C., Izatt, L., Izquierdo, A., Jakubowska, A., James, P., Janavicius, R., Jensen, U. B., John, E. M., Vijai, J., Kaczmarek, K., Karlan, B. Y., Kast, K., Investigators, K., Kim, S.-W., Konstantopoulou, I., Korach, J., Laitman, Y., Lasa, A., Lasset, C., Lázaro, C., Lee, A., Lee, M. H., Lester, J., Lesueur, F., Liljegren, A., Lindor, N. M., Longy, M., Loud, J. T., Lu, K. H., Lubinski, J., Machackova, E., Manoukian, S., Mari, V., Martínez-Bouzas, C., Matrai, Z., Mebirouk, N., Meijers-Heijboer, H. E. J., Meindl, A., Mensenkamp, A. R., Mickys, U., Miller, A., Montagna, M., Moysich, K. B., Mulligan, A. M., Musinsky, J., Neuhausen, S. L., Nevanlinna, H., Ngeow, J., Nguyen, H. P., Niederacher, D., Nielsen, H. R., Nielsen, F. C., Nussbaum, R. L., Offit, K., Öfverholm, A., Ong, K.-R., Osorio, A., Papi, L., Papp, J., Pasini, B., Pedersen, I. S., Peixoto, A., Peruga, N., Peterlongo, P., Pohl, E., Pradhan, N., Prajzendanc, K., Prieur, F., Pujol, P., Radice, P., Ramus, S. J., Rantala, J., Rashid, M. U., Rhiem, K., Robson, M., Rodriguez, G. C., Rogers, M. T., Rudaitis, V., Schmidt, A. Y., Schmutzler, R. K., Senter, L., Shah, P. D., Sharma, P., Side, L. E., Simard, J., Singer, C. F., Skytte, A.-B., Slavin, T. P., Snape, K., Sobol, H., Southey, M., Steele, L., Steinemann, D., Sukiennicki, G., Sutter, C., Szabo, C. I., Tan, Y. Y., Teixeira, M. R., Terry, M. B., Teulé, A., Thomas, A., Thull, D. L., Tischkowitz, M., Tognazzo, S., Toland, A. E., Topka, S., Trainer, A. H., Tung, N., van Asperen, C. J., van der Hout, A. H., van der Kolk, L. E., van der Luijt, R. B., Van Heetvelde, M., Varesco, L., Varon-Mateeva, R., Vega, A., Villarreal-Garza, C., von Wachenfeldt, A., Walker, L., Wang-Gohrke, S., Wappenschmidt, B., Weber, B. H. F., Yannoukakos, D., Yoon, S.-Y., Zanzottera, C., Zidan, J., Zorn, K. K., Hutten Selkirk, C. G., Hulick, P. J., Chenevix-Trench, G., Spurdle, A. B., Antoniou, A. C., & Nathanson, K. L.
Venue
Human Mutation
Publisher
Wiley
Published
2018-03-12
Volume
39
Issue
5
Pages
593-620
ISSN
1059-7794 (ISSN-L)
DOI
10.1002/humu.23406
OpenAlex
W2789006266
Cited by
312
References
65
FWCI
19.43
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. https://app.cochat.ai/papers/10.1002/humu.23406
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Rebbeck, T. R., Friebel, T. M., Friedman, E., Hamann, U., Huo, D., Kwong, A., Olah, E., Olopade, O. I., Solano, A. R., Teo, S.-H., Thomassen, M., Weitzel, J. N., Chan, T., Couch, F. J., Goldgar, D. E., Kruse, T. A., Palmero, E. I., Park, S. K., Torres, D., . . . Nathanson, K. L. (2018). Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Human Mutation. https://doi.org/10.1002/humu.23406

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