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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)
Spanish Natl Canc Res Ctr, Human Genet Grp, Madrid, Spain.
Spanish Natl Canc Res Ctr, Genet and Mol Epidemiol Grp, Madrid, Spain.
Spanish Natl Canc Res Ctr, Human Canc Genet Programme, Genotyping Unit, Madrid, Spain.
Fdn IRCCS Ist Nazl Tumori, Milan, Italy.
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2009 (English)In: British Journal of Cancer, ISSN 0007-0920, E-ISSN 1532-1827, Vol. 101, no 12, 2048-2054 p.Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron I 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.

Place, publisher, year, edition, pages
2009. Vol. 101, no 12, 2048-2054 p.
Keyword [en]
BRCA1; BRCA2; ERCC4; breast cancer
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:liu:diva-52912DOI: 10.1038/sj.bjc.6605416OAI: oai:DiVA.org:liu-52912DiVA: diva2:285720
Available from: 2010-01-12 Created: 2010-01-12 Last updated: 2017-12-12

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Stenmark Askmalm, Marie

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OncologyFaculty of Health SciencesDepartment of Clinical Pathology and Clinical Genetics
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