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

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, 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 AM, 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 SW, 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 KR, 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 AB, 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 SY, Zanzottera C, Zidan J, Zorn KK, Hutten Selkirk CG, Hulick PJ, Chenevix-Trench G, Spurdle AB, Antoniou AC, Nathanson KL

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DOI: 10.1002/humu.23406
Published: 2018 May
Container: Human mutation
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1002/humu.23406,
  title = {Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.},
  author = {Rebbeck TR and Friebel TM and Friedman E and Hamann U and Huo D and Kwong A and Olah E and Olopade OI and Solano AR and Teo SH and Thomassen M and Weitzel JN and Chan TL and Couch FJ and Goldgar DE and Kruse TA and Palmero EI and Park SK and Torres D and van Rensburg EJ and McGuffog L and Parsons MT and Leslie G and Aalfs CM and Abugattas J and Adlard J and Agata S and Aittomäki K and Andrews L and Andrulis IL and Arason A and Arnold N and Arun BK and Asseryanis E and Auerbach L and Azzollini J and Balmaña J and Barile M and Barkardottir RB and Barrowdale D and Benitez J and Berger A and Berger R and Blanco AM and Blazer KR and Blok MJ and Bonadona V and Bonanni B and Bradbury AR and Brewer C and Buecher B and Buys SS and Caldes T and Caliebe A and Caligo MA and Campbell I and Caputo SM and Chiquette J and Chung WK and Claes KBM and Collée JM and Cook J and Davidson R and de la Hoya M and De Leeneer K and de Pauw A and Delnatte C and Diez O and Ding YC and Ditsch N and Domchek SM and Dorfling CM and Velazquez C and Dworniczak B and Eason J and Easton DF and Eeles R and Ehrencrona H and Ejlertsen B and EMBRACE and Engel C and Engert S and Evans DG and Faivre L and Feliubadaló L and Ferrer SF and Foretova L and Fowler J and Frost D and Galvão HCR and Ganz PA and Garber J and Gauthier-Villars M and Gehrig A and GEMO Study Collaborators and Gerdes AM and Gesta P and Giannini G and Giraud S and Glendon G and Godwin AK and Greene MH and Gronwald J and Gutierrez-Barrera A and Hahnen E and Hauke J and HEBON and Henderson A and Hentschel J and Hogervorst FBL and Honisch E and Imyanitov EN and Isaacs C and Izatt L and Izquierdo A and Jakubowska A and James P and Janavicius R and Jensen UB and John EM and Vijai J and Kaczmarek K and Karlan BY and Kast K and Investigators K and Kim SW and Konstantopoulou I and Korach J and Laitman Y and Lasa A and Lasset C and Lázaro C and Lee A and Lee MH and Lester J and Lesueur F and Liljegren A and Lindor NM and Longy M and Loud JT and Lu KH and Lubinski J and Machackova E and Manoukian S and Mari V and Martínez-Bouzas C and Matrai Z and Mebirouk N and Meijers-Heijboer HEJ and Meindl A and Mensenkamp AR and Mickys U and Miller A and Montagna M and Moysich KB and Mulligan AM and Musinsky J and Neuhausen SL and Nevanlinna H and Ngeow J and Nguyen HP and Niederacher D and Nielsen HR and Nielsen FC and Nussbaum RL and Offit K and Öfverholm A and Ong KR and Osorio A and Papi L and Papp J and Pasini B and Pedersen IS and Peixoto A and Peruga N and Peterlongo P and Pohl E and Pradhan N and Prajzendanc K and Prieur F and Pujol P and Radice P and Ramus SJ and Rantala J and Rashid MU and Rhiem K and Robson M and Rodriguez GC and Rogers MT and Rudaitis V and Schmidt AY and Schmutzler RK and Senter L and Shah PD and Sharma P and Side LE and Simard J and Singer CF and Skytte AB and Slavin TP and Snape K and Sobol H and Southey M and Steele L and Steinemann D and Sukiennicki G and Sutter C and Szabo CI and Tan YY and Teixeira MR and Terry MB and Teulé A and Thomas A and Thull DL and Tischkowitz M and Tognazzo S and Toland AE and Topka S and Trainer AH and Tung N and van Asperen CJ and van der Hout AH and van der Kolk LE and van der Luijt RB and Van Heetvelde M and Varesco L and Varon-Mateeva R and Vega A and Villarreal-Garza C and von Wachenfeldt A and Walker L and Wang-Gohrke S and Wappenschmidt B and Weber BHF and Yannoukakos D and Yoon SY and Zanzottera C and Zidan J and Zorn KK and Hutten Selkirk CG and Hulick PJ and Chenevix-Trench G and Spurdle AB and Antoniou AC and Nathanson KL},
  year = {2018},
  journal = {Human mutation},
  doi = {10.1002/humu.23406},
  url = {https://doi.org/10.1002/humu.23406}
}

RIS

TY  - JOUR
TI  - Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
AU  - Rebbeck TR
AU  - Friebel TM
AU  - Friedman E
AU  - Hamann U
AU  - Huo D
AU  - Kwong A
AU  - Olah E
AU  - Olopade OI
AU  - Solano AR
AU  - Teo SH
AU  - Thomassen M
AU  - Weitzel JN
AU  - Chan TL
AU  - Couch FJ
AU  - Goldgar DE
AU  - Kruse TA
AU  - Palmero EI
AU  - Park SK
AU  - Torres D
AU  - van Rensburg EJ
AU  - McGuffog L
AU  - Parsons MT
AU  - Leslie G
AU  - Aalfs CM
AU  - Abugattas J
AU  - Adlard J
AU  - Agata S
AU  - Aittomäki K
AU  - Andrews L
AU  - Andrulis IL
AU  - Arason A
AU  - Arnold N
AU  - Arun BK
AU  - Asseryanis E
AU  - Auerbach L
AU  - Azzollini J
AU  - Balmaña J
AU  - Barile M
AU  - Barkardottir RB
AU  - Barrowdale D
AU  - Benitez J
AU  - Berger A
AU  - Berger R
AU  - Blanco AM
AU  - Blazer KR
AU  - Blok MJ
AU  - Bonadona V
AU  - Bonanni B
AU  - Bradbury AR
AU  - Brewer C
AU  - Buecher B
AU  - Buys SS
AU  - Caldes T
AU  - Caliebe A
AU  - Caligo MA
AU  - Campbell I
AU  - Caputo SM
AU  - Chiquette J
AU  - Chung WK
AU  - Claes KBM
AU  - Collée JM
AU  - Cook J
AU  - Davidson R
AU  - de la Hoya M
AU  - De Leeneer K
AU  - de Pauw A
AU  - Delnatte C
AU  - Diez O
AU  - Ding YC
AU  - Ditsch N
AU  - Domchek SM
AU  - Dorfling CM
AU  - Velazquez C
AU  - Dworniczak B
AU  - Eason J
AU  - Easton DF
AU  - Eeles R
AU  - Ehrencrona H
AU  - Ejlertsen B
AU  - EMBRACE
AU  - Engel C
AU  - Engert S
AU  - Evans DG
AU  - Faivre L
AU  - Feliubadaló L
AU  - Ferrer SF
AU  - Foretova L
AU  - Fowler J
AU  - Frost D
AU  - Galvão HCR
AU  - Ganz PA
AU  - Garber J
AU  - Gauthier-Villars M
AU  - Gehrig A
AU  - GEMO Study Collaborators
AU  - Gerdes AM
AU  - Gesta P
AU  - Giannini G
AU  - Giraud S
AU  - Glendon G
AU  - Godwin AK
AU  - Greene MH
AU  - Gronwald J
AU  - Gutierrez-Barrera A
AU  - Hahnen E
AU  - Hauke J
AU  - HEBON
AU  - Henderson A
AU  - Hentschel J
AU  - Hogervorst FBL
AU  - Honisch E
AU  - Imyanitov EN
AU  - Isaacs C
AU  - Izatt L
AU  - Izquierdo A
AU  - Jakubowska A
AU  - James P
AU  - Janavicius R
AU  - Jensen UB
AU  - John EM
AU  - Vijai J
AU  - Kaczmarek K
AU  - Karlan BY
AU  - Kast K
AU  - Investigators K
AU  - Kim SW
AU  - Konstantopoulou I
AU  - Korach J
AU  - Laitman Y
AU  - Lasa A
AU  - Lasset C
AU  - Lázaro C
AU  - Lee A
AU  - Lee MH
AU  - Lester J
AU  - Lesueur F
AU  - Liljegren A
AU  - Lindor NM
AU  - Longy M
AU  - Loud JT
AU  - Lu KH
AU  - Lubinski J
AU  - Machackova E
AU  - Manoukian S
AU  - Mari V
AU  - Martínez-Bouzas C
AU  - Matrai Z
AU  - Mebirouk N
AU  - Meijers-Heijboer HEJ
AU  - Meindl A
AU  - Mensenkamp AR
AU  - Mickys U
AU  - Miller A
AU  - Montagna M
AU  - Moysich KB
AU  - Mulligan AM
AU  - Musinsky J
AU  - Neuhausen SL
AU  - Nevanlinna H
AU  - Ngeow J
AU  - Nguyen HP
AU  - Niederacher D
AU  - Nielsen HR
AU  - Nielsen FC
AU  - Nussbaum RL
AU  - Offit K
AU  - Öfverholm A
AU  - Ong KR
AU  - Osorio A
AU  - Papi L
AU  - Papp J
AU  - Pasini B
AU  - Pedersen IS
AU  - Peixoto A
AU  - Peruga N
AU  - Peterlongo P
AU  - Pohl E
AU  - Pradhan N
AU  - Prajzendanc K
AU  - Prieur F
AU  - Pujol P
AU  - Radice P
AU  - Ramus SJ
AU  - Rantala J
AU  - Rashid MU
AU  - Rhiem K
AU  - Robson M
AU  - Rodriguez GC
AU  - Rogers MT
AU  - Rudaitis V
AU  - Schmidt AY
AU  - Schmutzler RK
AU  - Senter L
AU  - Shah PD
AU  - Sharma P
AU  - Side LE
AU  - Simard J
AU  - Singer CF
AU  - Skytte AB
AU  - Slavin TP
AU  - Snape K
AU  - Sobol H
AU  - Southey M
AU  - Steele L
AU  - Steinemann D
AU  - Sukiennicki G
AU  - Sutter C
AU  - Szabo CI
AU  - Tan YY
AU  - Teixeira MR
AU  - Terry MB
AU  - Teulé A
AU  - Thomas A
AU  - Thull DL
AU  - Tischkowitz M
AU  - Tognazzo S
AU  - Toland AE
AU  - Topka S
AU  - Trainer AH
AU  - Tung N
AU  - van Asperen CJ
AU  - van der Hout AH
AU  - van der Kolk LE
AU  - van der Luijt RB
AU  - Van Heetvelde M
AU  - Varesco L
AU  - Varon-Mateeva R
AU  - Vega A
AU  - Villarreal-Garza C
AU  - von Wachenfeldt A
AU  - Walker L
AU  - Wang-Gohrke S
AU  - Wappenschmidt B
AU  - Weber BHF
AU  - Yannoukakos D
AU  - Yoon SY
AU  - Zanzottera C
AU  - Zidan J
AU  - Zorn KK
AU  - Hutten Selkirk CG
AU  - Hulick PJ
AU  - Chenevix-Trench G
AU  - Spurdle AB
AU  - Antoniou AC
AU  - Nathanson KL
PY  - 2018
JO  - Human mutation
DO  - 10.1002/humu.23406
UR  - https://doi.org/10.1002/humu.23406
ER  -

APA

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pubmed · retrieved 2026-09-26T12:21:56.378Z