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)

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)

kConFab

Human Genetics Group, Spanish National Cancer Research Centre, C/Melchor Fernández Almagro 3, 28029 Madrid, Spain. [email protected]

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

13 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
Pages (from-to)	2048-54
Number of pages	7
Journal	British Journal of Cancer
Volume	101
Issue number	12
DOIs	https://doi.org/10.1038/sj.bjc.6605416
Publication status	Published - 15 Dec 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)

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10.1038/sj.bjc.6605416

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@article{99dbc84a8d304728acbbc206e337fcaf,

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 = "kConFab and 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 Evans, {D G} and J Cook and S Hodgson and Morrison, {P J} and F Douglas and D Muller and Singer, {C F} and Hansen, {Thomas V O} and D Schaefer",

year = "2009",

month = dec,

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

language = "English",

volume = "101",

pages = "2048--54",

journal = "British Journal of Cancer",

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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 - kConFab

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 - Evans, D G

AU - Cook, J

AU - Hodgson, S

AU - Morrison, P J

AU - Douglas, F

AU - Muller, D

AU - Singer, C F

AU - Hansen, Thomas V O

AU - Schaefer, D

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 - 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

UN SDGs

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