%0 Journal Article %1 Osorio.2009 %A Osorio, A. %A Milne, R. L. %A Pita, G. %A Peterlongo, P. %A Heikkinen, T. %A Simard, J. %A Chenevix-Trench, G. %A Spurdle, A. B. %A Beesley, J. %A Chen, X. %A Healey, S. %A Neuhausen, S. L. %A Ding, Y. C. %A Couch, F. J. %A Wang, X. %A Lindor, N. %A Manoukian, S. %A Barile, M. %A Viel, A. %A Tizzoni, L. %A Szabo, C. I. %A Foretova, L. %A Zikan, M. %A Claes, K. %A Greene, M. H. %A Mai, P. %A Rennert, G. %A Lejbkowicz, F. %A Barnett-Griness, O. %A Andrulis, I. L. %A Ozcelik, H. %A Weerasooriya, N. %A Gerdes, A-M %A Thomassen, M. %A Cruger, D. G. %A Caligo, M. A. %A Friedman, E. %A Kaufman, B. %A Laitman, Y. %A Cohen, S. %A Kontorovich, T. %A Gershoni-Baruch, R. %A Dagan, E. %A Jernström, H. %A Askmalm, M. S. %A Arver, B. %A Malmer, B. %A Domchek, S. M. %A Nathanson, K. L. %A Brunet, J. %A Ramón Y Cajal, T, %A Yannoukakos, D. %A Hamann, U. %A Hogervorst, F B L, %A Verhoef, S. %A Gómez García, E B, %A Wijnen, J. T. %A van den Ouweland, A, %A Easton, D. F. %A Peock, S. %A Cook, M. %A Oliver, C. T. %A Frost, D. %A Luccarini, C. %A Evans, D. G. %A Lalloo, F. %A Eeles, R. %A Pichert, G. %A Cook, J. %A Hodgson, S. %A Morrison, P. J. %A Douglas, F. %A Godwin, A. K. %A Sinilnikova, O. M. %A Barjhoux, L. %A Stoppa-Lyonnet, D. %A Moncoutier, V. %A Giraud, S. %A Cassini, C. %A Olivier-Faivre, L. %A Révillion, F. %A Peyrat, J-P %A Muller, D. %A Fricker, J-P %A Lynch, H. T. %A John, E. M. %A Buys, S. %A Daly, M. %A Hopper, J. L. %A Terry, M. B. %A Miron, A. %A Yassin, Y. %A Goldgar, D. %A Singer, C. F. %A Gschwantler-Kaulich, D. %A Pfeiler, G. %A Spiess, A-C %A Hansen, Thomas V O, %A Johannsson, O. T. %A Kirchhoff, T. %A Offit, K. %A Kosarin, K. %A Piedmonte, M. %A Rodriguez, G. C. %A Wakeley, K. %A Boggess, J. F. %A Basil, J. %A Schwartz, P. E. %A Blank, S. V. %A Toland, A. E. %A Montagna, M. %A Casella, C. %A Imyanitov, E. N. %A Allavena, A. %A Schmutzler, R. K. %A Versmold, B. %A Engel, Christoph %A Meindl, A. %A Ditsch, N. %A Arnold, N. %A Niederacher, D. %A Deissler, H. %A Fiebig, B. %A Varon-Mateeva, R. %A Schaefer, D. %A Froster, U. G. %A Caldes, T. %A de la Hoya, M, %A McGuffog, L. %A Antoniou, A. C. %A Nevanlinna, H. %A Radice, P. %A Benítez, J. %D 2009 %J British journal of cancer %K IMISE-Publikationen %N 12 %P 2048–2054 %T 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) %V 101 %X BACKGROUND\r\nIn 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.\r\nMETHODS\r\nWe 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.\r\nRESULTS\r\nWe 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.\r\nCONCLUSION\r\nThis SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.

@article{Osorio.2009, abstract = {BACKGROUND\r\nIn 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.\r\nMETHODS\r\nWe 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.\r\nRESULTS\r\nWe 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.\r\nCONCLUSION\r\nThis SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.}, added-at = {2014-10-15T15:04:14.000+0200}, 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, H. and Askmalm, M. S. and Arver, B. and Malmer, B. and Domchek, S. M. and Nathanson, K. L. and Brunet, J. and {Ramón Y Cajal, T} and Yannoukakos, D. and Hamann, U. and {Hogervorst, F B L} and Verhoef, S. and {Gómez García, 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 Révillion, 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, Christoph 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 Benítez, J.}, biburl = {https://www.bibsonomy.org/bibtex/27d8b341c58eeca5e46c339a4f06de4c2/drtester}, interhash = {9dcec98621cf79f5862491951f8c65d1}, intrahash = {7d8b341c58eeca5e46c339a4f06de4c2}, journal = {British journal of cancer}, keywords = {IMISE-Publikationen}, number = 12, pages = {2048–2054}, timestamp = {2014-12-02T23:59:57.000+0100}, 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)}, volume = 101, year = 2009 }