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; Thomas V O Hansen; kConFab

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, Thomas V O Hansen, kConFab

14 Citations (Scopus)

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.

Original language	English
Journal	British Journal of Cancer
Volume	101
Issue number	12
Pages (from-to)	2048-54
Number of pages	7
ISSN	0007-0920
DOIs	https://doi.org/10.1038/sj.bjc.6605416
Publication status	Published - 15 Dec 2009
Externally published	Yes

Keywords

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

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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., ... kConFab (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), 2048-54. 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, 15.12.2009, p. 2048-54.

Research output: Contribution to journal › Journal article › Research › peer-review

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, A-M, 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, Hansen, TVO & kConFab 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. 2048-54. https://doi.org/10.1038/sj.bjc.6605416

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

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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 - Hansen, Thomas V O

AU - kConFab

PY - 2009/12/15

Y1 - 2009/12/15

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, 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.

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, 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.

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 - https://www.scopus.com/pages/publications/71649085141

U2 - 10.1038/sj.bjc.6605416

DO - 10.1038/sj.bjc.6605416

M3 - Journal article

C2 - 19920816

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

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