Rebbeck, Timothy R., Friebel, Tara M., Friedman, Eitan, Hamann, Ute, Huo, Dezheng, Kwong, Ava ORCID: 0000-0002-6968-9489, Olah, Edith, Olopade, Olufunmilayo I., Solano, Angela R., Teo, Soo-Hwang, Thomassen, Mads, Weitzel, Jeffrey N., Chan, T. L., Couch, Fergus J., Goldgar, David E., Kruse, Torben A., Palmero, Edenir Inez, 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, Aittomaki, Kristiina, Andrews, Lesley, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert ORCID: 0000-0003-4523-8808, Arun, Banu K., Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo ORCID: 0000-0002-9364-9778, Balmana, Judith ORCID: 0000-0002-0762-6415, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berger, Andreas, Berger, Raanan, Blanco, Amie M., Blazer, Kathleen R., Blok, Marinus J., Bonadona, Valerie, Bonanni, Bernardo, Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caldes, Trinidad, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Caligo, Maria A., Campbell, Ian, Caputo, Sandrine M., Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M., Collee, J. Margriet, Cook, Jackie, Davidson, Rosemarie, de la Hoya, Miguel ORCID: 0000-0002-8113-1410, De Leeneer, Kim, de Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, SusanM., Dorfling, Cecilia M., Velazquez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Easton, Douglas F., Eeles, Ros, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Ejlertsen, Bent, Engel, Christoph ORCID: 0000-0002-7247-282X, Engert, Stefanie, Evans, D. Gareth, Faivre, Laurence, Feliubadalo, Lidia ORCID: 0000-0002-1736-0112, Ferrer, Sandra Fert, Foretova, Lenka, Fowler, Jeffrey, Frost, Debra, Galvao, Henrique C. R., Ganz, Patricia A., Garber, Judy, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie ORCID: 0000-0002-0328-3320, Gesta, Paul, Giannini, Giuseppe ORCID: 0000-0003-0299-4056, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Greene, Mark H., Gronwald, Jacek, Gutierrez-Barrera, Angelica, Hahnen, Eric, Hauke, Jan, Henderson, Alex, Hentschel, Julia, Hogervorst, Frans B. L., Honisch, Ellen, Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna ORCID: 0000-0002-5650-0501, James, Paul ORCID: 0000-0002-4361-4657, Janavicius, Ramunas, Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, John, Esther M., Vijai, Joseph, Kaczmarek, Katarzyna, Karlan, Beth Y., Kast, Karin, Kim, Sung-Won, Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Korach, Jacob, Laitman, Yael, Lasa, Adriana, Lasset, Christine, Lazaro, Conxi, Lee, Annette, Lee, Min Hyuk, Lester, Jenny, Lesueur, Fabienne ORCID: 0000-0001-7404-4549, Liljegren, Annelie, Lindor, Noralane M., Longy, Michel, Loud, Jennifer T., Lu, Karen H., Lubinski, Jan ORCID: 0000-0003-2931-3003, Machackova, Eva, Manoukian, Siranoush, Mari, Veronique, Martinez-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 ORCID: 0000-0002-7239-5297, Musinsky, Jacob, Neuhausen, Susan L., Nevanlinna, Heli, Ngeow, Joanne ORCID: 0000-0003-1558-3627, Nguyen, Huu Phuc, Niederacher, Dieter, Nielsen, Henriette Roed, Nielsen, Finn Cilius, Nussbaum, Robert L., Offit, Kenneth, Ofverholm, Anna, Ong, Kai-ren, Osorio, Ana ORCID: 0000-0001-8124-3984, Papi, Laura, Papp, Janos, Pasini, Barbara, Pedersen, Inge Sokilde, Peixoto, Ana ORCID: 0000-0002-1404-5897, Peruga, Nina, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Pohl, Esther, Pradhan, Nisha, Prajzendanc, Karolina, Prieur, Fabienne, Pujol, Pascal, Radice, Paolo ORCID: 0000-0001-6298-4111, 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 ORCID: 0000-0002-0067-9557, Slavin, Thomas P., Snape, Katie, Sobol, Hagay, Southey, Melissa ORCID: 0000-0002-6313-9005, Steele, Linda, Steinemann, Doris, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I., Tan, Yen Y., Teixeira, Manuel R., Terry, Mary Beth, Teule, Alex ORCID: 0000-0003-0028-7200, Thomas, Abigail, Thull, Darcy L., Tischkowitz, Marc ORCID: 0000-0002-7880-0628, Tognazzo, Silvia ORCID: 0000-0002-6260-1261, Toland, Amanda Ewart, Topka, Sabine ORCID: 0000-0002-7767-4471, 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 ORCID: 0000-0003-4871-6668, Varon-Mateeva, Raymonda, Vega, Ana, Villarreal-Garza, Cynthia ORCID: 0000-0003-3587-339X, 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., Selkirk, Christina G. Hutten, Hulick, Peter J., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Spurdle, Amanda B., Antoniou, Antonis C. and Nathanson, Katherine L. (2018). Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum. Mutat., 39 (5). S. 593 - 621. HOBOKEN: WILEY. ISSN 1098-1004

Full text not available from this repository.

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Rebbeck, Timothy R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Friebel, Tara M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Friedman, EitanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hamann, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Huo, DezhengUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kwong, AvaUNSPECIFIEDorcid.org/0000-0002-6968-9489UNSPECIFIED
Olah, EdithUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olopade, Olufunmilayo I.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Solano, Angela R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Teo, Soo-HwangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thomassen, MadsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weitzel, Jeffrey N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chan, T. L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goldgar, David E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kruse, Torben A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Palmero, Edenir InezUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Park, Sue KyungUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Torres, DianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Rensburg, Elizabeth J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McGuffog, LesleyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Parsons, Michael T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Leslie, GoskaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Aalfs, Cora M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Abugattas, JulioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Adlard, JulianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Agata, SimonaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Aittomaki, KristiinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andrews, LesleyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andrulis, Irene L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arason, AdalgeirUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arnold, NorbertUNSPECIFIEDorcid.org/0000-0003-4523-8808UNSPECIFIED
Arun, Banu K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Asseryanis, EllaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Auerbach, LeoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Azzollini, JacopoUNSPECIFIEDorcid.org/0000-0002-9364-9778UNSPECIFIED
Balmana, JudithUNSPECIFIEDorcid.org/0000-0002-0762-6415UNSPECIFIED
Barile, MonicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barkardottir, Rosa B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barrowdale, DanielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benitez, JavierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berger, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berger, RaananUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blanco, Amie M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blazer, Kathleen R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blok, Marinus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bonadona, ValerieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bonanni, BernardoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bradbury, Angela R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brewer, CaroleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buecher, BrunoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buys, Saundra S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caldes, TrinidadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caliebe, AlmuthUNSPECIFIEDorcid.org/0000-0003-2157-425XUNSPECIFIED
Caligo, Maria A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Campbell, IanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caputo, Sandrine M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chiquette, JocelyneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chung, Wendy K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Claes, Kathleen B. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Collee, J. MargrietUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cook, JackieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Davidson, RosemarieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de la Hoya, MiguelUNSPECIFIEDorcid.org/0000-0002-8113-1410UNSPECIFIED
De Leeneer, KimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Pauw, AntoineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Delnatte, CapucineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Diez, OrlandUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ding, Yuan ChunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ditsch, NinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Domchek, SusanM.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dorfling, Cecilia M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Velazquez, CarolinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dworniczak, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eason, JacquelineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eeles, RosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ehrencrona, HansUNSPECIFIEDorcid.org/0000-0002-5589-3622UNSPECIFIED
Ejlertsen, BentUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Engel, ChristophUNSPECIFIEDorcid.org/0000-0002-7247-282XUNSPECIFIED
Engert, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Evans, D. GarethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Faivre, LaurenceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Feliubadalo, LidiaUNSPECIFIEDorcid.org/0000-0002-1736-0112UNSPECIFIED
Ferrer, Sandra FertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Foretova, LenkaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fowler, JeffreyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Frost, DebraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Galvao, Henrique C. R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ganz, Patricia A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garber, JudyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gauthier-Villars, MarionUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gehrig, AndreaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gerdes, Anne-MarieUNSPECIFIEDorcid.org/0000-0002-0328-3320UNSPECIFIED
Gesta, PaulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giannini, GiuseppeUNSPECIFIEDorcid.org/0000-0003-0299-4056UNSPECIFIED
Giraud, SophieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Glendon, GordUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Godwin, Andrew K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Greene, Mark H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gronwald, JacekUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gutierrez-Barrera, AngelicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hahnen, EricUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hauke, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Henderson, AlexUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hentschel, JuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hogervorst, Frans B. L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Honisch, EllenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Imyanitov, Evgeny N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Isaacs, ClaudineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Izatt, LouiseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Izquierdo, AngelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jakubowska, AnnaUNSPECIFIEDorcid.org/0000-0002-5650-0501UNSPECIFIED
James, PaulUNSPECIFIEDorcid.org/0000-0002-4361-4657UNSPECIFIED
Janavicius, RamunasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jensen, Uffe BirkUNSPECIFIEDorcid.org/0000-0002-6205-6355UNSPECIFIED
John, Esther M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vijai, JosephUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kaczmarek, KatarzynaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Karlan, Beth Y.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kast, KarinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kim, Sung-WonUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Konstantopoulou, IreneUNSPECIFIEDorcid.org/0000-0002-0470-0309UNSPECIFIED
Korach, JacobUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Laitman, YaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lasa, AdrianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lasset, ChristineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lazaro, ConxiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lee, AnnetteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lee, Min HyukUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lester, JennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lesueur, FabienneUNSPECIFIEDorcid.org/0000-0001-7404-4549UNSPECIFIED
Liljegren, AnnelieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lindor, Noralane M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Longy, MichelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Loud, Jennifer T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lu, Karen H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
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Machackova, EvaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Manoukian, SiranoushUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mari, VeroniqueUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martinez-Bouzas, CristinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Matrai, ZoltanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mebirouk, NouraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
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Montagna, MarcoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
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Toland, Amanda EwartUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Topka, SabineUNSPECIFIEDorcid.org/0000-0002-7767-4471UNSPECIFIED
Trainer, Alison H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tung, NadineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Asperen, Christi J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van der Hout, Annemieke H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van der Kolk, Lizet E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van der Luijt, Rob B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Van Heetvelde, MattiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Varesco, LilianaUNSPECIFIEDorcid.org/0000-0003-4871-6668UNSPECIFIED
Varon-Mateeva, RaymondaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vega, AnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Villarreal-Garza, CynthiaUNSPECIFIEDorcid.org/0000-0003-3587-339XUNSPECIFIED
von Wachenfeldt, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Walker, LisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang-Gohrke, ShanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wappenschmidt, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weber, Bernhard H. F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yannoukakos, DrakoulisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yoon, Sook-YeeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zanzottera, CristinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zidan, JamalUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zorn, Kristin K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Selkirk, Christina G. HuttenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hulick, Peter J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chenevix-Trench, GeorgiaUNSPECIFIEDorcid.org/0000-0002-1878-2587UNSPECIFIED
Spurdle, Amanda B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Antoniou, Antonis C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nathanson, Katherine L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-186940
DOI: 10.1002/humu.23406
Journal or Publication Title: Hum. Mutat.
Volume: 39
Number: 5
Page Range: S. 593 - 621
Date: 2018
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1098-1004
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
BREAST-CANCER PATIENTS; GERMLINE MUTATIONS; FOUNDER MUTATIONS; HIGH-RISK; HAPLOTYPE ANALYSIS; HEREDITARY BREAST; PHENOTYPE ANALYSIS; 185DELAG MUTATION; RECURRENT BRCA1; GENE-MUTATIONSMultiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/18694

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