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

13 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	British Journal of Cancer
Vol/bind	101
Udgave nummer	12
Sider (fra-til)	2048-54
Antal sider	7
ISSN	0007-0920
DOI	https://doi.org/10.1038/sj.bjc.6605416
Status	Udgivet - 15 dec. 2009
Udgivet eksternt	Ja

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10.1038/sj.bjc.6605416

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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.
I: British Journal of Cancer, Bind 101, Nr. 12, 15.12.2009, s. 2048-54.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › 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, bind 101, nr. 12, s. 2048-54. https://doi.org/10.1038/sj.bjc.6605416

@article{15a4e6fdac0d408abfe06f19a2dc3e56,

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.",

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 A-M Gerdes 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 Hansen, {Thomas V O} and kConFab",

year = "2009",

month = dec,

day = "15",

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

language = "English",

volume = "101",

pages = "2048--54",

journal = "British Journal of Cancer",

issn = "0007-0920",

publisher = "Nature Publishing Group",

number = "12",

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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 - 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

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

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