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; Simard, J. ; Chenevix-Trench, G. ; Spurdle, A. B.
; Beesley, J.
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; Thomassen, M. ; Cruger, D. G. ; Caligo, M. A.
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; Brunet, J.
; Ramón y Cajal, T. ; Yannoukakos, D.
; Hamann, U. ; Hogervorst, F. B. L. ; Verhoef, S. ; García, E.B. Gómez ; Wijnen, J. T. ; van den Ouweland, A. ; Easton, D. F. ; Peock, S. ; Cook, M. ; Oliver, C. T. ; Frost, D. ; Luccarini, C. ; Evans, D. G.
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; Benítez, J. | Dokumentenart: | Artikel | ||||
|---|---|---|---|---|---|
| Titel eines Journals oder einer Zeitschrift: | British Journal of Cancer | ||||
| Verlag: | NATURE PUBLISHING GROUP | ||||
| Ort der Veröffentlichung: | LONDON | ||||
| Band: | 101 | ||||
| Nummer des Zeitschriftenheftes oder des Kapitels: | 12 | ||||
| Seitenbereich: | S. 2048-2054 | ||||
| Datum: | 2009 | ||||
| Institutionen: | Medizin > Lehrstuhl für Humangenetik | ||||
| Identifikationsnummer: |
| ||||
| Stichwörter / Keywords: | EXCISION-REPAIR; OVARIAN-CANCER; POLYMORPHISMS; GENES; NUCLEOTIDE; BRCA1; BRCA2; ERCC4; breast cancer | ||||
| Dewey-Dezimal-Klassifikation: | 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin | ||||
| Status: | Veröffentlicht | ||||
| Begutachtet: | Ja, diese Version wurde begutachtet | ||||
| An der Universität Regensburg entstanden: | Ja | ||||
| Dokumenten-ID: | 66675 |
Zusammenfassung
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 ...

Zusammenfassung
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. British Journal of Cancer (2009) 101, 2048-2054. doi: 10.1038/sj.bjc.6605416 www.bjcancer.com Published online 17 November 2009 (C) 2009 Cancer Research UK
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