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)

A. Osorio; R. L. Milne; G. Pita; P. Peterlongo; T. Heikkinen; J. Simard; G. Chenevix-Trench; A. B. Spurdle; J. Beesley; X. Chen; S. Healey; S. L. Neuhausen; Y. C. Ding; F. J. Couch; X. Wang; N. Lindor; S. Manoukian; M. Barile; A. Viel; L. Tizzoni; C. I. Szabo; L. Foretova; M. Zikan; K. Claes; M. H. Greene; P. Mai; G. Rennert; F. Lejbkowicz; O. Barnett-Griness; I. L. Andrulis; H. Ozcelik; N. Weerasooriya; A. M. Gerdes; M. Thomassen; D. G. Cruger; M. A. Caligo; E. Friedman; B. Kaufman; Y. Laitman; S. Cohen; T. Kontorovich; R. Gershoni-Baruch; E. Dagan; H. Jernström; M. S. Askmalm; B. Arver; B. Malmer; S. M. Domchek; K. L. Nathanson; J. Brunet; T. Ramón Y Cajal; D. Yannoukakos; U. Hamann; F. B.L. Hogervorst; S. Verhoef; E. B.Gómez Garcíla; J. T. Wijnen; A. Van Den Ouweland; D. F. Easton; S. Peock; M. Cook; C. T. Oliver; D. Frost; C. Luccarini; D. G. Evans; F. Lalloo; R. Eeles; G. Pichert; J. Cook; S. Hodgson; P. J. Morrison; F. Douglas; A. K. Godwin; O. M. Sinilnikova; L. Barjhoux; D. Stoppa-Lyonnet; V. Moncoutier; S. Giraud; C. Cassini; L. Olivier-Faivre; F. Révillion; J. P. Peyrat; D. Muller; J. P. Fricker; H. T. Lynch; E. M. John; S. Buys; M. Daly; J. L. Hopper; M. B. Terry; A. Miron; Y. Yassin; D. Goldgar; C. F. Singer; D. Gschwantler-Kaulich; G. Pfeiler; A. C. Spiess; Thomas V.O. Hansen; O. T. Johannsson; T. Kirchhoff; K. Offit; K. Kosarin; M. Piedmonte; G. C. Rodriguez; K. Wakeley; J. F. Boggess; J. Basil; P. E. Schwartz; S. V. Blank; A. E. Toland; M. Montagna; C. Casella; E. N. Imyanitov; A. Allavena; R. K. Schmutzler; B. Versmold; C. Engel; A. Meindl; N. Ditsch; N. Arnold; D. Niederacher; H. Deiler; B. Fiebig; R. Varon-Mateeva; D. Schaefer; U. G. Froster; T. Caldes; M. De La Hoya; L. McGuffog; A. C. Antoniou; H. Nevanlinna; P. Radice; J. Benítez

doi:10.1038/sj.bjc.6605416

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)

A. Osorio, R. L. Milne, G. Pita, P. Peterlongo, T. Heikkinen, J. Simard, G. Chenevix-Trench, A. B. Spurdle, J. Beesley, X. Chen, S. Healey, S. L. Neuhausen, Y. C. Ding, F. J. Couch, X. Wang, N. Lindor, S. Manoukian, M. Barile, A. Viel, L. TizzoniC. I. Szabo, L. Foretova, M. Zikan, K. Claes, M. H. Greene, P. Mai, G. Rennert, F. Lejbkowicz, O. Barnett-Griness, I. L. Andrulis, H. Ozcelik, N. Weerasooriya, A. M. Gerdes, M. Thomassen, D. G. Cruger, M. A. Caligo, E. Friedman, B. Kaufman, Y. Laitman, S. Cohen, T. Kontorovich, R. Gershoni-Baruch, E. Dagan, H. Jernström, M. S. Askmalm, B. Arver, B. Malmer, S. M. Domchek, K. L. Nathanson, J. Brunet, T. Ramón Y Cajal, D. Yannoukakos, U. Hamann, F. B.L. Hogervorst, S. Verhoef, E. B.Gómez Garcíla, J. T. Wijnen, A. Van Den Ouweland, D. F. Easton, S. Peock, M. Cook, C. T. Oliver, D. Frost, C. Luccarini, D. G. Evans, F. Lalloo, R. Eeles, G. Pichert, J. Cook, S. Hodgson, P. J. Morrison, F. Douglas, A. K. Godwin, O. M. Sinilnikova, L. Barjhoux, D. Stoppa-Lyonnet, V. Moncoutier, S. Giraud, C. Cassini, L. Olivier-Faivre, F. Révillion, J. P. Peyrat, D. Muller, J. P. Fricker, H. T. Lynch, E. M. John, S. Buys, M. Daly, J. L. Hopper, M. B. Terry, A. Miron, Y. Yassin, D. Goldgar, C. F. Singer, D. Gschwantler-Kaulich, G. Pfeiler, A. C. Spiess, Thomas V.O. Hansen, O. T. Johannsson, T. Kirchhoff, K. Offit, K. Kosarin, M. Piedmonte, G. C. Rodriguez, K. Wakeley, J. F. Boggess, J. Basil, P. E. Schwartz, S. V. Blank, A. E. Toland, M. Montagna, C. Casella, E. N. Imyanitov, A. Allavena, R. K. Schmutzler, B. Versmold, C. Engel, A. Meindl, N. Ditsch, N. Arnold, D. Niederacher, H. Deiler, B. Fiebig, R. Varon-Mateeva, D. Schaefer, U. G. Froster, T. Caldes, M. De La Hoya, L. McGuffog, A. C. Antoniou, H. Nevanlinna, P. Radice, J. Benítez

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

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, P0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P0.5) mutation carriers. Conclusion: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.

Original language	English
Pages (from-to)	2048-2054
Number of pages	7
Journal	British Journal of Cancer
Volume	101
Issue number	12
DOIs	https://doi.org/10.1038/sj.bjc.6605416
State	Published - Nov 15 2009

Keywords

Cohort Studies
DNA-Binding Proteins/genetics
Female
Genes, BRCA1
Genes, BRCA2
Heterozygote
Humans
Mutation
Polymorphism, Single Nucleotide
Retrospective Studies

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1038/sj.bjc.6605416

Cite this

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., ... Benítez, J. (2009). 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). British Journal of Cancer, 101(12), 2048-2054. https://doi.org/10.1038/sj.bjc.6605416

@article{2cf61470f7064809bbbc4994cb456d60,

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)",

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, P0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P0.5) mutation carriers. Conclusion: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.",

keywords = "Cohort Studies, DNA-Binding Proteins/genetics, Female, Genes, BRCA1, Genes, BRCA2, Heterozygote, Humans, Mutation, Polymorphism, Single Nucleotide, Retrospective Studies",

author = "A. Osorio and Milne, {R. L.} and G. Pita and P. Peterlongo and T. Heikkinen and J. Simard and G. Chenevix-Trench and Spurdle, {A. B.} and J. Beesley and X. Chen and S. Healey and Neuhausen, {S. L.} and Ding, {Y. C.} and Couch, {F. J.} and X. Wang and N. Lindor and S. Manoukian and M. Barile and A. Viel and L. Tizzoni and Szabo, {C. I.} and L. Foretova and M. Zikan and K. Claes and Greene, {M. H.} and P. Mai and G. Rennert and F. Lejbkowicz and O. Barnett-Griness and Andrulis, {I. L.} and H. Ozcelik and N. Weerasooriya and Gerdes, {A. M.} and M. Thomassen and Cruger, {D. G.} and Caligo, {M. A.} and E. Friedman and B. Kaufman and Y. Laitman and S. Cohen and T. Kontorovich and R. Gershoni-Baruch and E. Dagan and H. Jernstr{\"o}m and Askmalm, {M. S.} and B. Arver and B. Malmer and Domchek, {S. M.} and Nathanson, {K. L.} and J. Brunet and {Ram{\'o}n Y Cajal}, T. and D. Yannoukakos and U. Hamann and Hogervorst, {F. B.L.} and S. Verhoef and Garc{\'i}la, {E. B.G{\'o}mez} and Wijnen, {J. T.} and {Van Den Ouweland}, A. and Easton, {D. F.} and S. Peock and M. Cook and Oliver, {C. T.} and D. Frost and C. Luccarini and Evans, {D. G.} and F. Lalloo and R. Eeles and G. Pichert and J. Cook and S. Hodgson and Morrison, {P. J.} and F. Douglas and Godwin, {A. K.} and Sinilnikova, {O. M.} and L. Barjhoux and D. Stoppa-Lyonnet and V. Moncoutier and S. Giraud and C. Cassini and L. Olivier-Faivre and F. R{\'e}villion and Peyrat, {J. P.} and D. Muller and Fricker, {J. P.} and Lynch, {H. T.} and John, {E. M.} and S. Buys and M. Daly and Hopper, {J. L.} and Terry, {M. B.} and A. Miron and Y. Yassin and D. Goldgar and Singer, {C. F.} and D. Gschwantler-Kaulich and G. Pfeiler and Spiess, {A. C.} and Hansen, {Thomas V.O.} and Johannsson, {O. T.} and T. Kirchhoff and K. Offit and K. Kosarin and M. Piedmonte and Rodriguez, {G. C.} and K. Wakeley and Boggess, {J. F.} and J. Basil and Schwartz, {P. E.} and Blank, {S. V.} and Toland, {A. E.} and M. Montagna and C. Casella and Imyanitov, {E. N.} and A. Allavena and Schmutzler, {R. K.} and B. Versmold and C. Engel and A. Meindl and N. Ditsch and N. Arnold and D. Niederacher and H. Deiler and B. Fiebig and R. Varon-Mateeva and D. Schaefer and Froster, {U. G.} and T. Caldes and {De La Hoya}, M. and L. McGuffog and Antoniou, {A. C.} and H. Nevanlinna and P. Radice and J. Ben{\'i}tez",

year = "2009",

month = nov,

day = "15",

doi = "10.1038/sj.bjc.6605416",

language = "English",

volume = "101",

pages = "2048--2054",

journal = "British Journal of Cancer",

issn = "0007-0920",

publisher = "Nature Publishing Group",

number = "12",

}

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, Jernström, H, Askmalm, MS, Arver, B, Malmer, B, Domchek, SM, Nathanson, KL, Brunet, J, Ramón Y Cajal, T, Yannoukakos, D, Hamann, U, Hogervorst, FBL, Verhoef, S, Garcíla, 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, Révillion, 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, TVO, 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, Deiler, H, Fiebig, B, Varon-Mateeva, R, Schaefer, D, Froster, UG, Caldes, T, De La Hoya, M, McGuffog, L, Antoniou, AC, Nevanlinna, H, Radice, P & Benítez, J 2009, '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)', British Journal of Cancer, vol. 101, no. 12, pp. 2048-2054. https://doi.org/10.1038/sj.bjc.6605416

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. et al.
In: British Journal of Cancer, Vol. 101, No. 12, 15.11.2009, p. 2048-2054.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - 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)

AU - Osorio, A.

AU - Milne, R. L.

AU - Pita, G.

AU - Peterlongo, P.

AU - Heikkinen, T.

AU - Simard, J.

AU - Chenevix-Trench, G.

AU - Spurdle, A. B.

AU - Beesley, J.

AU - Chen, X.

AU - Healey, S.

AU - Neuhausen, S. L.

AU - Ding, Y. C.

AU - Couch, F. J.

AU - Wang, X.

AU - Lindor, N.

AU - Manoukian, S.

AU - Barile, M.

AU - Viel, A.

AU - Tizzoni, L.

AU - Szabo, C. I.

AU - Foretova, L.

AU - Zikan, M.

AU - Claes, K.

AU - Greene, M. H.

AU - Mai, P.

AU - Rennert, G.

AU - Lejbkowicz, F.

AU - Barnett-Griness, O.

AU - Andrulis, I. L.

AU - Ozcelik, H.

AU - Weerasooriya, N.

AU - Gerdes, A. M.

AU - Thomassen, M.

AU - Cruger, D. G.

AU - Caligo, M. A.

AU - Friedman, E.

AU - Kaufman, B.

AU - Laitman, Y.

AU - Cohen, S.

AU - Kontorovich, T.

AU - Gershoni-Baruch, R.

AU - Dagan, E.

AU - Jernström, H.

AU - Askmalm, M. S.

AU - Arver, B.

AU - Malmer, B.

AU - Domchek, S. M.

AU - Nathanson, K. L.

AU - Brunet, J.

AU - Ramón Y Cajal, T.

AU - Yannoukakos, D.

AU - Hamann, U.

AU - Hogervorst, F. B.L.

AU - Verhoef, S.

AU - Garcíla, E. B.Gómez

AU - Wijnen, J. T.

AU - Van Den Ouweland, A.

AU - Easton, D. F.

AU - Peock, S.

AU - Cook, M.

AU - Oliver, C. T.

AU - Frost, D.

AU - Luccarini, C.

AU - Evans, D. G.

AU - Lalloo, F.

AU - Eeles, R.

AU - Pichert, G.

AU - Cook, J.

AU - Hodgson, S.

AU - Morrison, P. J.

AU - Douglas, F.

AU - Godwin, A. K.

AU - Sinilnikova, O. M.

AU - Barjhoux, L.

AU - Stoppa-Lyonnet, D.

AU - Moncoutier, V.

AU - Giraud, S.

AU - Cassini, C.

AU - Olivier-Faivre, L.

AU - Révillion, F.

AU - Peyrat, J. P.

AU - Muller, D.

AU - Fricker, J. P.

AU - Lynch, H. T.

AU - John, E. M.

AU - Buys, S.

AU - Daly, M.

AU - Hopper, J. L.

AU - Terry, M. B.

AU - Miron, A.

AU - Yassin, Y.

AU - Goldgar, D.

AU - Singer, C. F.

AU - Gschwantler-Kaulich, D.

AU - Pfeiler, G.

AU - Spiess, A. C.

AU - Hansen, Thomas V.O.

AU - Johannsson, O. T.

AU - Kirchhoff, T.

AU - Offit, K.

AU - Kosarin, K.

AU - Piedmonte, M.

AU - Rodriguez, G. C.

AU - Wakeley, K.

AU - Boggess, J. F.

AU - Basil, J.

AU - Schwartz, P. E.

AU - Blank, S. V.

AU - Toland, A. E.

AU - Montagna, M.

AU - Casella, C.

AU - Imyanitov, E. N.

AU - Allavena, A.

AU - Schmutzler, R. K.

AU - Versmold, B.

AU - Engel, C.

AU - Meindl, A.

AU - Ditsch, N.

AU - Arnold, N.

AU - Niederacher, D.

AU - Deiler, H.

AU - Fiebig, B.

AU - Varon-Mateeva, R.

AU - Schaefer, D.

AU - Froster, U. G.

AU - Caldes, T.

AU - De La Hoya, M.

AU - McGuffog, L.

AU - Antoniou, A. C.

AU - Nevanlinna, H.

AU - Radice, P.

AU - Benítez, J.

PY - 2009/11/15

Y1 - 2009/11/15

N2 - 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, P0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P0.5) mutation carriers. Conclusion: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.

AB - 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, P0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P0.5) mutation carriers. Conclusion: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.

KW - Cohort Studies

KW - DNA-Binding Proteins/genetics

KW - Female

KW - Genes, BRCA1

KW - Genes, BRCA2

KW - Heterozygote

KW - Humans

KW - Mutation

KW - Polymorphism, Single Nucleotide

KW - Retrospective Studies

UR - http://www.scopus.com/inward/record.url?scp=71649085141&partnerID=8YFLogxK

U2 - 10.1038/sj.bjc.6605416

DO - 10.1038/sj.bjc.6605416

M3 - Article

C2 - 19920816

AN - SCOPUS:71649085141

SN - 0007-0920

VL - 101

SP - 2048

EP - 2054

JO - British Journal of Cancer

JF - British Journal of Cancer

IS - 12

ER -

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)

Abstract

Keywords

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this