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).
Br J Cancer
; 101(12): 2048-54, 2009 Dec 15.
Article
in En
| MEDLINE
| ID: mdl-19920816
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genes, BRCA1
/
Polymorphism, Single Nucleotide
/
Genes, BRCA2
/
DNA-Binding Proteins
/
Heterozygote
/
Mutation
Type of study:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
Language:
En
Journal:
Br J Cancer
Year:
2009
Document type:
Article