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)

评估ERCC4基因中与乳腺癌相关的候选SNP作为BRCA1和BRCA2突变携带者风险修饰因子的作用。来自BRCA1/BRCA2修饰因子研究联盟（CIMBA）的研究结果

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作者：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
期刊：British Journal of Cancer影响因子：6.800
时间：2009起止号：2009 Dec 15;101(12):2048-54
doi：10.1038/sj.bjc.6605416靶点： BRCA1、BRCA2
研究方向： 肿瘤疾病类型： 乳腺癌

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.

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