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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)

Osorio, A.; Milne, R. L.; Pita, G.; Peterlongo, P.; Heikkinen, T.; Simard, J.; Chenevix-Trench, G.; Spurdle, A. B.; Beesley, J. and Chen, X., et al. (2009) In British Journal of Cancer 101(12). p.2048-2054
Abstract
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.... (More)
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. Published online 17 November 2009 (C) 2009 Cancer Research UK (Less)
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published
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keywords
breast cancer, ERCC4, BRCA1, BRCA2
in
British Journal of Cancer
volume
101
issue
12
pages
2048 - 2054
publisher
Nature Publishing Group
external identifiers
  • wos:000272557800015
  • scopus:71649085141
ISSN
1532-1827
DOI
10.1038/sj.bjc.6605416
language
English
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yes
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1a268f12-9cd8-4f7c-968f-9e4105c25f70 (old id 1532780)
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2010-01-29 09:50:07
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2017-01-01 04:51:40
@article{1a268f12-9cd8-4f7c-968f-9e4105c25f70,
  abstract     = {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. Published online 17 November 2009 (C) 2009 Cancer Research UK},
  author       = {Osorio, A. and Milne, R. L. and Pita, G. and Peterlongo, P. and Heikkinen, T. and Simard, J. and Chenevix-Trench, G. and Spurdle, A. B. and Beesley, J. and Chen, X. and Healey, S. and Neuhausen, S. L. and Ding, Y. C. and Couch, F. J. and Wang, X. and Lindor, N. and Manoukian, S. and Barile, M. and Viel, A. and Tizzoni, L. and Szabo, C. I. and Foretova, L. and Zikan, M. and Claes, K. and Greene, M. H. and Mai, P. and Rennert, G. and Lejbkowicz, F. and Barnett-Griness, O. and Andrulis, I. L. and Ozcelik, H. and Weerasooriya, N. and Gerdes, A-M and Thomassen, M. and Cruger, D. G. and Caligo, M. A. and Friedman, E. and Kaufman, B. and Laitman, Y. and Cohen, S. and Kontorovich, T. and Gershoni-Baruch, R. and Dagan, E. and Jernström, Helena and Askmalm, M. S. and Arver, B. and Malmer, B. and Domchek, S. M. and Nathanson, K. L. and Brunet, J. and Ramon y Cajal, T. and Yannoukakos, D. and Hamann, U. and Hogervorst, F. B. L. and Verhoef, S. and Gomez Garcia, E. B. and Wijnen, J. T. and van den Ouweland, A. and Easton, D. F. and Peock, S. and Cook, M. and Oliver, C. T. and Frost, D. and Luccarini, C. and Evans, D. G. and Lalloo, F. and Eeles, R. and Pichert, G. and Cook, J. and Hodgson, S. and Morrison, P. J. and Douglas, F. and Godwin, A. K. and Sinilnikova, O. M. and Barjhoux, L. and Stoppa-Lyonnet, D. and Moncoutier, V. and Giraud, S. and Cassini, C. and Olivier-Faivre, L. and Revillion, F. and Peyrat, J-P and Muller, D. and Fricker, J-P and Lynch, H. T. and John, E. M. and Buys, S. and Daly, M. and Hopper, J. L. and Terry, M. B. and Miron, A. and Yassin, Y. and Goldgar, D. and Singer, C. F. and Gschwantler-Kaulich, D. and Pfeiler, G. and Spiess, A-C and Hansen, Thomas v. O. and Johannsson, O. T. and Kirchhoff, T. and Offit, K. and Kosarin, K. and Piedmonte, M. and Rodriguez, G. C. and Wakeley, K. and Boggess, J. F. and Basil, J. and Schwartz, P. E. and Blank, S. V. and Toland, A. E. and Montagna, M. and Casella, C. and Imyanitov, E. N. and Allavena, A. and Schmutzler, R. K. and Versmold, B. and Engel, C. and Meindl, A. and Ditsch, N. and Arnold, N. and Niederacher, D. and Deissler, H. and Fiebig, B. and Varon-Mateeva, R. and Schaefer, D. and Froster, U. G. and Caldes, T. and de la Hoya, M. and McGuffog, L. and Antoniou, A. C. and Nevanlinna, H. and Radice, P. and Benitez, J.},
  issn         = {1532-1827},
  keyword      = {breast cancer,ERCC4,BRCA1,BRCA2},
  language     = {eng},
  number       = {12},
  pages        = {2048--2054},
  publisher    = {Nature Publishing Group},
  series       = {British Journal of Cancer},
  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)},
  url          = {http://dx.doi.org/10.1038/sj.bjc.6605416},
  volume       = {101},
  year         = {2009},
}