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

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Date
2018-05
ICR Author
Eeles, Rosalind
Author
Rebbeck, TR
Friebel, TM
Friedman, E
Hamann, U
Huo, D
Kwong, A
Olah, E
Olopade, OI
Solano, AR
Teo, S-H
Thomassen, M
Weitzel, JN
Chan, TL
Couch, FJ
Goldgar, DE
Kruse, TA
Palmero, EI
Park, SK
Torres, D
van Rensburg, EJ
McGuffog, L
Parsons, MT
Leslie, G
Aalfs, CM
Abugattas, J
Adlard, J
Agata, S
Aittomäki, K
Andrews, L
Andrulis, IL
Arason, A
Arnold, N
Arun, BK
Asseryanis, E
Auerbach, L
Azzollini, J
Balmaña, J
Barile, M
Barkardottir, RB
Barrowdale, D
Benitez, J
Berger, A
Berger, R
Blanco, AM
Blazer, KR
Blok, MJ
Bonadona, V
Bonanni, B
Bradbury, AR
Brewer, C
Buecher, B
Buys, SS
Caldes, T
Caliebe, A
Caligo, MA
Campbell, I
Caputo, SM
Chiquette, J
Chung, WK
Claes, KBM
Collée, JM
Cook, J
Davidson, R
de la Hoya, M
De Leeneer, K
de Pauw, A
Delnatte, C
Diez, O
Ding, YC
Ditsch, N
Domchek, SM
Dorfling, CM
Velazquez, C
Dworniczak, B
Eason, J
Easton, DF
Eeles, R
Ehrencrona, H
Ejlertsen, B
EMBRACE
Engel, C
Engert, S
Evans, DG
Faivre, L
Feliubadaló, L
Ferrer, SF
Foretova, L
Fowler, J
Frost, D
Galvão, HCR
Ganz, PA
Garber, J
Gauthier-Villars, M
Gehrig, A
GEMO Study Collaborators
Gerdes, A-M
Gesta, P
Giannini, G
Giraud, S
Glendon, G
Godwin, AK
Greene, MH
Gronwald, J
Gutierrez-Barrera, A
Hahnen, E
Hauke, J
HEBON
Henderson, A
Hentschel, J
Hogervorst, FBL
Honisch, E
Imyanitov, EN
Isaacs, C
Izatt, L
Izquierdo, A
Jakubowska, A
James, P
Janavicius, R
Jensen, UB
John, EM
Vijai, J
Kaczmarek, K
Karlan, BY
Kast, K
Investigators, K
Kim, S-W
Konstantopoulou, I
Korach, J
Laitman, Y
Lasa, A
Lasset, C
Lázaro, C
Lee, A
Lee, MH
Lester, J
Lesueur, F
Liljegren, A
Lindor, NM
Longy, M
Loud, JT
Lu, KH
Lubinski, J
Machackova, E
Manoukian, S
Mari, V
Martínez-Bouzas, C
Matrai, Z
Mebirouk, N
Meijers-Heijboer, HEJ
Meindl, A
Mensenkamp, AR
Mickys, U
Miller, A
Montagna, M
Moysich, KB
Mulligan, AM
Musinsky, J
Neuhausen, SL
Nevanlinna, H
Ngeow, J
Nguyen, HP
Niederacher, D
Nielsen, HR
Nielsen, FC
Nussbaum, RL
Offit, K
Öfverholm, A
Ong, K-R
Osorio, A
Papi, L
Papp, J
Pasini, B
Pedersen, IS
Peixoto, A
Peruga, N
Peterlongo, P
Pohl, E
Pradhan, N
Prajzendanc, K
Prieur, F
Pujol, P
Radice, P
Ramus, SJ
Rantala, J
Rashid, MU
Rhiem, K
Robson, M
Rodriguez, GC
Rogers, MT
Rudaitis, V
Schmidt, AY
Schmutzler, RK
Senter, L
Shah, PD
Sharma, P
Side, LE
Simard, J
Singer, CF
Skytte, A-B
Slavin, TP
Snape, K
Sobol, H
Southey, M
Steele, L
Steinemann, D
Sukiennicki, G
Sutter, C
Szabo, CI
Tan, YY
Teixeira, MR
Terry, MB
Teulé, A
Thomas, A
Thull, DL
Tischkowitz, M
Tognazzo, S
Toland, AE
Topka, S
Trainer, AH
Tung, N
van Asperen, CJ
van der Hout, AH
van der Kolk, LE
van der Luijt, RB
Van Heetvelde, M
Varesco, L
Varon-Mateeva, R
Vega, A
Villarreal-Garza, C
von Wachenfeldt, A
Walker, L
Wang-Gohrke, S
Wappenschmidt, B
Weber, BHF
Yannoukakos, D
Yoon, S-Y
Zanzottera, C
Zidan, J
Zorn, KK
Hutten Selkirk, CG
Hulick, PJ
Chenevix-Trench, G
Spurdle, AB
Antoniou, AC
Nathanson, KL
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Type
Journal Article
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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.
URI
https://repository.icr.ac.uk/handle/internal/1469
DOI
https://doi.org/10.1002/humu.23406
Collections
  • Genetics and Epidemiology
  • Radiotherapy and Imaging
Subject
EMBRACE
GEMO Study Collaborators
HEBON
Humans
BRCA1 Protein
BRCA2 Protein
Family
Mutation
Geography
Internationality
Databases, Genetic
Research team
Oncogenetics
Language
eng
Date accepted
2018-01-19
License start date
2018-05
Citation
Human mutation, 2018, 39 (5), pp. 593 - 620

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