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).

2.50
Hdl Handle:
http://hdl.handle.net/2336/89134
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).
Authors:
Osorio, A; Milne, R L; Pita, G; Peterlongo, P; Heikkinen, T; Simard, J; Chenevix-Trench, G; Spurdle, A B; Beesley, J; Chen, X; Healey, S; Neuhausen, S L; Ding, Y C; Couch, F J; Wang, X; Lindor, N; Manoukian, S; Barile, M; Viel, A; Tizzoni, L; Szabo, C I; Foretova, L; Zikan, M; Claes, K; Greene, M H; Mai, P; Rennert, G; Lejbkowicz, F; Barnett-Griness, O; Andrulis, I L; Ozcelik, H; Weerasooriya, N; Gerdes, A-M; Thomassen, M; Cruger, D G; Caligo, M A; Friedman, E; Kaufman, B; Laitman, Y; Cohen, S; Kontorovich, T; Gershoni-Baruch, R; Dagan, E; Jernström, H; Askmalm, M S; Arver, B; Malmer, B; Domchek, S M; Nathanson, K L; Brunet, J; Ramón Y Cajal, T; Yannoukakos, D; Hamann, U; Hogervorst, F B L; Verhoef, S; Gómez García, E B; Wijnen, J T; van den Ouweland, A; Easton, D F; Peock, S; Cook, M; Oliver, C T; Frost, D; Luccarini, C; Evans, D G; Lalloo, F; Eeles, R; Pichert, G; Cook, J; Hodgson, S; Morrison, P J; Douglas, F; Godwin, A K; Sinilnikova, O M; Barjhoux, L; Stoppa-Lyonnet, D; Moncoutier, V; Giraud, S; Cassini, C; Olivier-Faivre, L; Révillion, F; Peyrat, J-P; Muller, D; Fricker, J-P; Lynch, H T; John, E M; Buys, S; Daly, M; Hopper, J L; Terry, M B; Miron, A; Yassin, Y; Goldgar, D; Singer, C F; Gschwantler-Kaulich, D; Pfeiler, G; Spiess, A-C; Hansen, Thomas V O; Johannsson, O T; Kirchhoff, T; Offit, K; Kosarin, K; Piedmonte, M; Rodriguez, G C; Wakeley, K; Boggess, J F; Basil, J; Schwartz, P E; Blank, S V; Toland, A E; Montagna, M; Casella, C; Imyanitov, E N; Allavena, A; Schmutzler, R K; Versmold, B; Engel, C; Meindl, A; Ditsch, N; Arnold, N; Niederacher, D; Deissler, H; Fiebig, B; Varon-Mateeva, R; Schaefer, D; Froster, U G; Caldes, T; de la Hoya, M; McGuffog, L; Antoniou, A C; Nevanlinna, H; Radice, P; Benítez, J
Citation:
Br. J. Cancer 2009, 101(12):2048-54
Issue Date:
15-Dec-2009
Abstract:
BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron 1 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.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1038/sj.bjc.6605416

Full metadata record

DC FieldValue Language
dc.contributor.authorOsorio, Aen
dc.contributor.authorMilne, R Len
dc.contributor.authorPita, Gen
dc.contributor.authorPeterlongo, Pen
dc.contributor.authorHeikkinen, Ten
dc.contributor.authorSimard, Jen
dc.contributor.authorChenevix-Trench, Gen
dc.contributor.authorSpurdle, A Ben
dc.contributor.authorBeesley, Jen
dc.contributor.authorChen, Xen
dc.contributor.authorHealey, Sen
dc.contributor.authorNeuhausen, S Len
dc.contributor.authorDing, Y Cen
dc.contributor.authorCouch, F Jen
dc.contributor.authorWang, Xen
dc.contributor.authorLindor, Nen
dc.contributor.authorManoukian, Sen
dc.contributor.authorBarile, Men
dc.contributor.authorViel, Aen
dc.contributor.authorTizzoni, Len
dc.contributor.authorSzabo, C Ien
dc.contributor.authorForetova, Len
dc.contributor.authorZikan, Men
dc.contributor.authorClaes, Ken
dc.contributor.authorGreene, M Hen
dc.contributor.authorMai, Pen
dc.contributor.authorRennert, Gen
dc.contributor.authorLejbkowicz, Fen
dc.contributor.authorBarnett-Griness, Oen
dc.contributor.authorAndrulis, I Len
dc.contributor.authorOzcelik, Hen
dc.contributor.authorWeerasooriya, Nen
dc.contributor.authorGerdes, A-Men
dc.contributor.authorThomassen, Men
dc.contributor.authorCruger, D Gen
dc.contributor.authorCaligo, M Aen
dc.contributor.authorFriedman, Een
dc.contributor.authorKaufman, Ben
dc.contributor.authorLaitman, Yen
dc.contributor.authorCohen, Sen
dc.contributor.authorKontorovich, Ten
dc.contributor.authorGershoni-Baruch, Ren
dc.contributor.authorDagan, Een
dc.contributor.authorJernström, Hen
dc.contributor.authorAskmalm, M Sen
dc.contributor.authorArver, Ben
dc.contributor.authorMalmer, Ben
dc.contributor.authorDomchek, S Men
dc.contributor.authorNathanson, K Len
dc.contributor.authorBrunet, Jen
dc.contributor.authorRamón Y Cajal, Ten
dc.contributor.authorYannoukakos, Den
dc.contributor.authorHamann, Uen
dc.contributor.authorHogervorst, F B Len
dc.contributor.authorVerhoef, Sen
dc.contributor.authorGómez García, E Ben
dc.contributor.authorWijnen, J Ten
dc.contributor.authorvan den Ouweland, Aen
dc.contributor.authorEaston, D Fen
dc.contributor.authorPeock, Sen
dc.contributor.authorCook, Men
dc.contributor.authorOliver, C Ten
dc.contributor.authorFrost, Den
dc.contributor.authorLuccarini, Cen
dc.contributor.authorEvans, D Gen
dc.contributor.authorLalloo, Fen
dc.contributor.authorEeles, Ren
dc.contributor.authorPichert, Gen
dc.contributor.authorCook, Jen
dc.contributor.authorHodgson, Sen
dc.contributor.authorMorrison, P Jen
dc.contributor.authorDouglas, Fen
dc.contributor.authorGodwin, A Ken
dc.contributor.authorSinilnikova, O Men
dc.contributor.authorBarjhoux, Len
dc.contributor.authorStoppa-Lyonnet, Den
dc.contributor.authorMoncoutier, Ven
dc.contributor.authorGiraud, Sen
dc.contributor.authorCassini, Cen
dc.contributor.authorOlivier-Faivre, Len
dc.contributor.authorRévillion, Fen
dc.contributor.authorPeyrat, J-Pen
dc.contributor.authorMuller, Den
dc.contributor.authorFricker, J-Pen
dc.contributor.authorLynch, H Ten
dc.contributor.authorJohn, E Men
dc.contributor.authorBuys, Sen
dc.contributor.authorDaly, Men
dc.contributor.authorHopper, J Len
dc.contributor.authorTerry, M Ben
dc.contributor.authorMiron, Aen
dc.contributor.authorYassin, Yen
dc.contributor.authorGoldgar, Den
dc.contributor.authorSinger, C Fen
dc.contributor.authorGschwantler-Kaulich, Den
dc.contributor.authorPfeiler, Gen
dc.contributor.authorSpiess, A-Cen
dc.contributor.authorHansen, Thomas V Oen
dc.contributor.authorJohannsson, O Ten
dc.contributor.authorKirchhoff, Ten
dc.contributor.authorOffit, Ken
dc.contributor.authorKosarin, Ken
dc.contributor.authorPiedmonte, Men
dc.contributor.authorRodriguez, G Cen
dc.contributor.authorWakeley, Ken
dc.contributor.authorBoggess, J Fen
dc.contributor.authorBasil, Jen
dc.contributor.authorSchwartz, P Een
dc.contributor.authorBlank, S Ven
dc.contributor.authorToland, A Een
dc.contributor.authorMontagna, Men
dc.contributor.authorCasella, Cen
dc.contributor.authorImyanitov, E Nen
dc.contributor.authorAllavena, Aen
dc.contributor.authorSchmutzler, R Ken
dc.contributor.authorVersmold, Ben
dc.contributor.authorEngel, Cen
dc.contributor.authorMeindl, Aen
dc.contributor.authorDitsch, Nen
dc.contributor.authorArnold, Nen
dc.contributor.authorNiederacher, Den
dc.contributor.authorDeissler, Hen
dc.contributor.authorFiebig, Ben
dc.contributor.authorVaron-Mateeva, Ren
dc.contributor.authorSchaefer, Den
dc.contributor.authorFroster, U Gen
dc.contributor.authorCaldes, Ten
dc.contributor.authorde la Hoya, Men
dc.contributor.authorMcGuffog, Len
dc.contributor.authorAntoniou, A Cen
dc.contributor.authorNevanlinna, Hen
dc.contributor.authorRadice, Pen
dc.contributor.authorBenítez, Jen
dc.date.accessioned2010-01-11T13:35:38Z-
dc.date.available2010-01-11T13:35:38Z-
dc.date.issued2009-12-15-
dc.date.submitted2010-01-11-
dc.identifier.citationBr. J. Cancer 2009, 101(12):2048-54en
dc.identifier.issn1532-1827-
dc.identifier.pmid19920816-
dc.identifier.doi10.1038/sj.bjc.6605416-
dc.identifier.urihttp://hdl.handle.net/2336/89134-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractBACKGROUND: In this study we aimed to evaluate the role of a SNP in intron 1 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.en
dc.language.isoenen
dc.publisherNature Publishing Group on behalf of Cancer Research UKen
dc.relation.urlhttp://dx.doi.org/10.1038/sj.bjc.6605416en
dc.subject.meshCohort Studiesen
dc.subject.meshDNA-Binding Proteinsen
dc.subject.meshFemaleen
dc.subject.meshGenes, BRCA1en
dc.subject.meshGenes, BRCA2en
dc.subject.meshHeterozygoteen
dc.subject.meshHumansen
dc.subject.meshMutationen
dc.subject.meshPolymorphism, Single Nucleotideen
dc.subject.meshRetrospective Studiesen
dc.titleEvaluation 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).en
dc.typeArticleen
dc.contributor.departmentHuman Genetics Group, Spanish National Cancer Research Centre, C/Melchor Fernández Almagro 3, 28029 Madrid, Spain. aosorio@cnio.esen
dc.identifier.journalBritish journal of canceren

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