Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

Osorio, A; Milne, RL; Pita, G; Peterlongo, P; Heikkinen, T; Simard, J; Chenevix-Trench, G; Spurdle, AB; Beesley, J; Chen, X; Healey, S; Neuhausen, SL; Ding, YC; Couch, FJ; Wang, X; Lindor, N; Manoukian, S; Barile, M; Viel, A; Tizzoni, L; Szabo, CI; Foretova, L; Zikan, M; Claes, K; Greene, MH; Mai, P; Rennert, G; Lejbkowicz, F; Barnett-Griness, O; Andrulis, IL; Ozcelik, H; Weerasooriya, N; Gerdes, AM; Thomassen, M; Cruger, DG; Caligo, MA; Friedman, E; Kaufman, B; Laitman, Y; Cohen, S; Kontorovich, T; Gershoni-Baruch, R; Dagan, E; Jernstrom, H; Askmalm, MS; Arver, B; Malmer, B; Domchek, SM; Nathanson, KL; Brunet, J; Cajal, TRY; Yannoukakos, D; Hamann, U; Hogervorst, FBL; Verhoef, S; Garcia, EBG; Wijnen, JT; van den Ouweland, A; Easton, DF; Peock, S; Cook, M; Oliver, CT; Frost, D; Luccarini, C; Evans, DG; Lalloo, F; Eeles, R; Pichert, G; Cook, J; Hodgson, S; Morrison, PJ; Douglas, F; Godwin, AK; Sinilnikova, OM; Barjhoux, L; Stoppa-Lyonnet, D; Moncoutier, V; Giraud, S; Cassini, C; Olivier-Faivre, L; Revillion, F; Peyrat, JP; Muller, D; Fricker, JP; Lynch, HT; John, EM; Buys, S; Daly, M; Hopper, JL; Terry, MB; Miron, A; Yassin, Y; Goldgar, D; Singer, CF; Gschwantler-Kaulich, D; Pfeiler, G; Spiess, AC; Hansen, TV; Johannsson, OT; Kirchhoff, T; Offit, K; Kosarin, K; Piedmonte, M; Rodriguez, GC; Wakeley, K; Boggess, JF; Basil, J; Schwartz, PE; Blank, SV; Toland, AE; Montagna, M; Casella, C; Imyanitov, EN; Allavena, A; Schmutzler, RK; Versmold, B; Engel, C; Meindl, A; Ditsch, N; Arnold, N; Niederacher, D; Deissler, H; Fiebig, B; Varon-Mateeva, R; Schaefer, D; Froster, UG; Caldes, T; de la Hoya, M; McGuffog, L; Antoniou, AC; Nevanlinna, H; Radice, P; Benitez, J

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron I of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. METHODS: We have geno...

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Autores:	Osorio, A, Milne, RL, Pita, G, Peterlongo, P, Heikkinen, T, Simard, J, Chenevix-Trench, G, Spurdle, AB, Beesley, J, Chen, X, Healey, S, Neuhausen, SL, Ding, YC, Couch, FJ, Wang, X, Lindor, N, Manoukian, S, Barile, M, Viel, A, Tizzoni, L, Szabo, CI, Foretova, L, Zikan, M, Claes, K, Greene, MH, Mai, P, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, IL, Ozcelik, H, Weerasooriya, N, Gerdes, AM, Thomassen, M, Cruger, DG, Caligo, MA, Friedman, E, Kaufman, B, Laitman, Y, Cohen, S, Kontorovich, T, Gershoni-Baruch, R, Dagan, E, Jernstrom, H, Askmalm, MS, Arver, B, Malmer, B, Domchek, SM, Nathanson, KL, Brunet, J, Cajal, TRY, Yannoukakos, D, Hamann, U, Hogervorst, FBL, Verhoef, S, Garcia, EBG, Wijnen, JT, van den Ouweland, A, Easton, DF, Peock, S, Cook, M, Oliver, CT, Frost, D, Luccarini, C, Evans, DG, Lalloo, F, Eeles, R, Pichert, G, Cook, J, Hodgson, S, Morrison, PJ, Douglas, F, Godwin, AK, Sinilnikova, OM, Barjhoux, L, Stoppa-Lyonnet, D, Moncoutier, V, Giraud, S, Cassini, C, Olivier-Faivre, L, Revillion, F, Peyrat, JP, Muller, D, Fricker, JP, Lynch, HT, John, EM, Buys, S, Daly, M, Hopper, JL, Terry, MB, Miron, A, Yassin, Y, Goldgar, D, Singer, CF, Gschwantler-Kaulich, D, Pfeiler, G, Spiess, AC, Hansen, TV, Johannsson, OT, Kirchhoff, T, Offit, K, Kosarin, K, Piedmonte, M, Rodriguez, GC, Wakeley, K, Boggess, JF, Basil, J, Schwartz, PE, Blank, SV, Toland, AE, Montagna, M, Casella, C, Imyanitov, EN, Allavena, A, Schmutzler, RK, Versmold, B, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Niederacher, D, Deissler, H, Fiebig, B, Varon-Mateeva, R, Schaefer, D, Froster, UG, Caldes, T, de la Hoya, M, McGuffog, L, Antoniou, AC, Nevanlinna, H, Radice, P, Benitez, J
Tipo de recurso:	artículo
Estado:	Versión publicada
Fecha de publicación:	2009
País:	España
Institución:	Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repositorio:	r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:	oai:iibsantpau.fundanetsuite.com:p12929
Acceso en línea:	https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12929
Access Level:	acceso abierto
Palabra clave:	BRCA1 BRCA2 ERCC4 breast cancer

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spelling	Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)Osorio, AMilne, RLPita, GPeterlongo, PHeikkinen, TSimard, JChenevix-Trench, GSpurdle, ABBeesley, JChen, XHealey, SNeuhausen, SLDing, YCCouch, FJWang, XLindor, NManoukian, SBarile, MViel, ATizzoni, LSzabo, CIForetova, LZikan, MClaes, KGreene, MHMai, PRennert, GLejbkowicz, FBarnett-Griness, OAndrulis, ILOzcelik, HWeerasooriya, NGerdes, AMThomassen, MCruger, DGCaligo, MAFriedman, EKaufman, BLaitman, YCohen, SKontorovich, TGershoni-Baruch, RDagan, EJernstrom, HAskmalm, MSArver, BMalmer, BDomchek, SMNathanson, KLBrunet, JCajal, TRYYannoukakos, DHamann, UHogervorst, FBLVerhoef, SGarcia, EBGWijnen, JTvan den Ouweland, AEaston, DFPeock, SCook, MOliver, CTFrost, DLuccarini, CEvans, DGLalloo, FEeles, RPichert, GCook, JHodgson, SMorrison, PJDouglas, FGodwin, AKSinilnikova, OMBarjhoux, LStoppa-Lyonnet, DMoncoutier, VGiraud, SCassini, COlivier-Faivre, LRevillion, FPeyrat, JPMuller, DFricker, JPLynch, HTJohn, EMBuys, SDaly, MHopper, JLTerry, MBMiron, AYassin, YGoldgar, DSinger, CFGschwantler-Kaulich, DPfeiler, GSpiess, ACHansen, TVJohannsson, OTKirchhoff, TOffit, KKosarin, KPiedmonte, MRodriguez, GCWakeley, KBoggess, JFBasil, JSchwartz, PEBlank, SVToland, AEMontagna, MCasella, CImyanitov, ENAllavena, ASchmutzler, RKVersmold, BEngel, CMeindl, ADitsch, NArnold, NNiederacher, DDeissler, HFiebig, BVaron-Mateeva, RSchaefer, DFroster, UGCaldes, Tde la Hoya, MMcGuffog, LAntoniou, ACNevanlinna, HRadice, PBenitez, JBRCA1BRCA2ERCC4breast cancerBACKGROUND: In this study we aimed to evaluate the role of a SNP in intron I of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. METHODS: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. RESULTS: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers. CONCLUSION: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out. British Journal of Cancer (2009) 101, 2048-2054. doi: 10.1038/sj.bjc.6605416 www.bjcancer.com Published online 17 November 2009 (C) 2009 Cancer Research UKNATURE PUBLISHING GROUP2009info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12929BRITISH JOURNAL OF CANCERISSN: 00070920ISSNe: 15321827reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauinstname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)Inglésinfo:eu-repo/semantics/openAccessoai:iibsantpau.fundanetsuite.com:p129292026-06-14T12:41:47Z
dc.title.none.fl_str_mv	Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
title	Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
spellingShingle	Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA) Osorio, A BRCA1 BRCA2 ERCC4 breast cancer
title_short	Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
title_full	Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
title_fullStr	Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
title_full_unstemmed	Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
title_sort	Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
dc.creator.none.fl_str_mv	Osorio, A Milne, RL Pita, G Peterlongo, P Heikkinen, T Simard, J Chenevix-Trench, G Spurdle, AB Beesley, J Chen, X Healey, S Neuhausen, SL Ding, YC Couch, FJ Wang, X Lindor, N Manoukian, S Barile, M Viel, A Tizzoni, L Szabo, CI Foretova, L Zikan, M Claes, K Greene, MH Mai, P Rennert, G Lejbkowicz, F Barnett-Griness, O Andrulis, IL Ozcelik, H Weerasooriya, N Gerdes, AM Thomassen, M Cruger, DG Caligo, MA Friedman, E Kaufman, B Laitman, Y Cohen, S Kontorovich, T Gershoni-Baruch, R Dagan, E Jernstrom, H Askmalm, MS Arver, B Malmer, B Domchek, SM Nathanson, KL Brunet, J Cajal, TRY Yannoukakos, D Hamann, U Hogervorst, FBL Verhoef, S Garcia, EBG Wijnen, JT van den Ouweland, A Easton, DF Peock, S Cook, M Oliver, CT Frost, D Luccarini, C Evans, DG Lalloo, F Eeles, R Pichert, G Cook, J Hodgson, S Morrison, PJ Douglas, F Godwin, AK Sinilnikova, OM Barjhoux, L Stoppa-Lyonnet, D Moncoutier, V Giraud, S Cassini, C Olivier-Faivre, L Revillion, F Peyrat, JP Muller, D Fricker, JP Lynch, HT John, EM Buys, S Daly, M Hopper, JL Terry, MB Miron, A Yassin, Y Goldgar, D Singer, CF Gschwantler-Kaulich, D Pfeiler, G Spiess, AC Hansen, TV Johannsson, OT Kirchhoff, T Offit, K Kosarin, K Piedmonte, M Rodriguez, GC Wakeley, K Boggess, JF Basil, J Schwartz, PE Blank, SV Toland, AE Montagna, M Casella, C Imyanitov, EN Allavena, A Schmutzler, RK Versmold, B Engel, C Meindl, A Ditsch, N Arnold, N Niederacher, D Deissler, H Fiebig, B Varon-Mateeva, R Schaefer, D Froster, UG Caldes, T de la Hoya, M McGuffog, L Antoniou, AC Nevanlinna, H Radice, P Benitez, J
author	Osorio, A
author_facet	Osorio, A Milne, RL Pita, G Peterlongo, P Heikkinen, T Simard, J Chenevix-Trench, G Spurdle, AB Beesley, J Chen, X Healey, S Neuhausen, SL Ding, YC Couch, FJ Wang, X Lindor, N Manoukian, S Barile, M Viel, A Tizzoni, L Szabo, CI Foretova, L Zikan, M Claes, K Greene, MH Mai, P Rennert, G Lejbkowicz, F Barnett-Griness, O Andrulis, IL Ozcelik, H Weerasooriya, N Gerdes, AM Thomassen, M Cruger, DG Caligo, MA Friedman, E Kaufman, B Laitman, Y Cohen, S Kontorovich, T Gershoni-Baruch, R Dagan, E Jernstrom, H Askmalm, MS Arver, B Malmer, B Domchek, SM Nathanson, KL Brunet, J Cajal, TRY Yannoukakos, D Hamann, U Hogervorst, FBL Verhoef, S Garcia, EBG Wijnen, JT van den Ouweland, A Easton, DF Peock, S Cook, M Oliver, CT Frost, D Luccarini, C Evans, DG Lalloo, F Eeles, R Pichert, G Cook, J Hodgson, S Morrison, PJ Douglas, F Godwin, AK Sinilnikova, OM Barjhoux, L Stoppa-Lyonnet, D Moncoutier, V Giraud, S Cassini, C Olivier-Faivre, L Revillion, F Peyrat, JP Muller, D Fricker, JP Lynch, HT John, EM Buys, S Daly, M Hopper, JL Terry, MB Miron, A Yassin, Y Goldgar, D Singer, CF Gschwantler-Kaulich, D Pfeiler, G Spiess, AC Hansen, TV Johannsson, OT Kirchhoff, T Offit, K Kosarin, K Piedmonte, M Rodriguez, GC Wakeley, K Boggess, JF Basil, J Schwartz, PE Blank, SV Toland, AE Montagna, M Casella, C Imyanitov, EN Allavena, A Schmutzler, RK Versmold, B Engel, C Meindl, A Ditsch, N Arnold, N Niederacher, D Deissler, H Fiebig, B Varon-Mateeva, R Schaefer, D Froster, UG Caldes, T de la Hoya, M McGuffog, L Antoniou, AC Nevanlinna, H Radice, P Benitez, J
author_role	author
author2	Milne, RL Pita, G Peterlongo, P Heikkinen, T Simard, J Chenevix-Trench, G Spurdle, AB Beesley, J Chen, X Healey, S Neuhausen, SL Ding, YC Couch, FJ Wang, X Lindor, N Manoukian, S Barile, M Viel, A Tizzoni, L Szabo, CI Foretova, L Zikan, M Claes, K Greene, MH Mai, P Rennert, G Lejbkowicz, F Barnett-Griness, O Andrulis, IL Ozcelik, H Weerasooriya, N Gerdes, AM Thomassen, M Cruger, DG Caligo, MA Friedman, E Kaufman, B Laitman, Y Cohen, S Kontorovich, T Gershoni-Baruch, R Dagan, E Jernstrom, H Askmalm, MS Arver, B Malmer, B Domchek, SM Nathanson, KL Brunet, J Cajal, TRY Yannoukakos, D Hamann, U Hogervorst, FBL Verhoef, S Garcia, EBG Wijnen, JT van den Ouweland, A Easton, DF Peock, S Cook, M Oliver, CT Frost, D Luccarini, C Evans, DG Lalloo, F Eeles, R Pichert, G Cook, J Hodgson, S Morrison, PJ Douglas, F Godwin, AK Sinilnikova, OM Barjhoux, L Stoppa-Lyonnet, D Moncoutier, V Giraud, S Cassini, C Olivier-Faivre, L Revillion, F Peyrat, JP Muller, D Fricker, JP Lynch, HT John, EM Buys, S Daly, M Hopper, JL Terry, MB Miron, A Yassin, Y Goldgar, D Singer, CF Gschwantler-Kaulich, D Pfeiler, G Spiess, AC Hansen, TV Johannsson, OT Kirchhoff, T Offit, K Kosarin, K Piedmonte, M Rodriguez, GC Wakeley, K Boggess, JF Basil, J Schwartz, PE Blank, SV Toland, AE Montagna, M Casella, C Imyanitov, EN Allavena, A Schmutzler, RK Versmold, B Engel, C Meindl, A Ditsch, N Arnold, N Niederacher, D Deissler, H Fiebig, B Varon-Mateeva, R Schaefer, D Froster, UG Caldes, T de la Hoya, M McGuffog, L Antoniou, AC Nevanlinna, H Radice, P Benitez, J
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.subject.none.fl_str_mv	BRCA1 BRCA2 ERCC4 breast cancer
topic	BRCA1 BRCA2 ERCC4 breast cancer
description	BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron I of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. METHODS: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. RESULTS: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers. CONCLUSION: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out. British Journal of Cancer (2009) 101, 2048-2054. doi: 10.1038/sj.bjc.6605416 www.bjcancer.com Published online 17 November 2009 (C) 2009 Cancer Research UK
publishDate	2009
dc.date.none.fl_str_mv	2009
dc.type.none.fl_str_mv	info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion
format	article
status_str	publishedVersion
dc.identifier.none.fl_str_mv	https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12929
url	https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12929
dc.language.none.fl_str_mv	Inglés
language_invalid_str_mv	Inglés
dc.rights.none.fl_str_mv	info:eu-repo/semantics/openAccess
eu_rights_str_mv	openAccess
dc.publisher.none.fl_str_mv	NATURE PUBLISHING GROUP
publisher.none.fl_str_mv	NATURE PUBLISHING GROUP
dc.source.none.fl_str_mv	BRITISH JOURNAL OF CANCER ISSN: 00070920 ISSNe: 15321827 reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
instname_str	Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
reponame_str	r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
collection	r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

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