Five polymorphisms and breast cancer risk: Results from the breast cancer association consortium Journal Article


Authors: Gaudet, M.; Milne, R. L.; Cox, A.; Camp, N. J.; Goode, E. L.; Humphreys, M. K.; Dunning, A. M.; Morrison, J.; Giles, G. G.; Severi, G.; Baglietto, L.; English, D. R.; Couch, F. J.; Olson, J. E.; Wang, X.; Chang-Claude, J.; Flesch-Janys, D.; Abbas, S.; Salazar, R.; Mannermaa, A.; Kataja, V.; Kosma, V. M.; Lindblom, A.; Margolin, S.; Heikkinen, T.; Kämpjärvi, K.; Aaltonen, K.; Nevanlinna, H.; Bogdanova, N.; Coinac, I.; Schürmann, P.; Dörk, T.; Bartram, C. R.; Schmutzler, R. K.; Tchatchou, S.; Burwinkel, B.; Brauch, H.; Torres, D.; Hamann, U.; Justenhoven, C.; Ribas, G.; Arias, J. I.; Benítez, J.; Bojesen, S. E.; Nordestgaard, B. G.; Flyger, H. L.; Peto, J.; Fletcher, O.; Johnson, N.; Silva, I. D. S.; Fasching, P. A.; Beckmann, M. W.; Strick, R.; Ekici, A. B.; Broeks, A.; Schmidt, M. K.; van Leeuwen, F. E.; Van't Veer, L. J.; Southey, M. C.; Hopper, J. L.; Apicella, C.; Haiman, C. A.; Henderson, B. E.; Le Marchand, L.; Kolonel, L. N.; Kristensen, V.; Alnæs, G. G.; Hunter, D. J.; Kraft, P.; Cox, D. G.; Hankinson, S. E.; Seynaeve, C.; Vreeswijk, M. P. G.; Tollenaar, R. A. E. M.; Devilee, P.; Chanock, S.; Lissowska, J.; Brinton, L.; Peplonska, B.; Czene, K.; Hall, P.; Li, Y.; Liu, J.; Balasubramanian, S.; Rafii, S.; Reed, M. W. R.; Pooley, K. A.; Conroy, D.; Baynes, C.; Kang, D.; Yoo, K. Y.; Noh, D. Y.; Ahn, S. H.; Shen, C. Y.; Wang, H. C.; Yu, J. C.; Wu, P. E.; Anton-Culver, H.; Ziogoas, A.; Egan, K.; Newcomb, P.; Titus-Ernstoff, L.; Trentham Dietz, A.; Sigurdson, A. J.; Alexander, B. H.; Bhatti, P.; Allen-Brady, K.; Cannon-Albright, L. A.; Wong, J.; Chenevis-Trench, G.; Spurdle, A. B.; Beesley, J.; Pharoah, P. D. P.; Easton, D. F.; Garcia-Closas, M.
Article Title: Five polymorphisms and breast cancer risk: Results from the breast cancer association consortium
Abstract: Previous studies have suggested that minor alleles for ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 may influence breast cancer risk, but the evidence is inconclusive due to their small sample size. These polymorphisms were genotyped in more than 30,000 breast cancer cases and 30,000 controls, primarily of European descent, from 30 studies in the Breast Cancer Association Consortium. We calculated odds ratios (OR) and 95% confidence intervals (95% CI) as a measure of association. We found that the minor alleles for these polymorphisms were not related to invasive breast cancer risk overall in women of European descent: ECCR4 per-allele OR (95% CI) = 0.99 (0.97-1.02), minor allele frequency = 27.5%; TNF 1.00 (0.95-1.06), 5.0%; CASP10 1.02 (0.98-1.07), 6.5%; PGR 1.02 (0.99-1.06), 15.3%; and BID 0.98 (0.86-1.12), 1.7%. However, we observed significant between-study heterogeneity for associations with risk for single-nucleotide polymorphisms (SNP) in CASP10, PGR, and BID. Estimates were imprecise for women of Asian and African descent due to small numbers and lower minor allele frequencies (with the exception of BID SNP). The ORs for each copy of the minor allele were not significantly different by estrogen or progesterone receptor status, nor were any significant interactions found between the polymorphisms and age or family history of breast cancer. In conclusion, our data provide persuasive evidence against an overall association between invasive breast cancer risk and ERCC4 rs744154, TNF rs361525, CASP10 rs13010627, PGR rs1042838, and BID rs8190315 genotypes among women of European descent. Copyright © 2009 American Association for Cancer Research.
Keywords: major clinical study; single nucleotide polymorphism; case control study; case-control studies; dna-binding proteins; polymorphism, single nucleotide; cancer risk; gene; genetic predisposition to disease; breast cancer; logistic models; genotype; alleles; gene frequency; breast neoplasms; risk; nuclear proteins; europe; tumor necrosis factor-alpha; intracellular signaling peptides and proteins; genetic risk; bid gene; casp10 gene; ercc4 gene; pgr gene; tnf gene; bh3 interacting domain death agonist protein; caspase 10
Journal Title: Cancer Epidemiology Biomarkers and Prevention
Volume: 18
Issue: 5
ISSN: 1055-9965
Publisher: American Association for Cancer Research  
Date Published: 2009-05-01
Start Page: 1610
End Page: 1616
Language: English
DOI: 10.1158/1055-9965.epi-08-0745
PUBMED: 19423537
PROVIDER: scopus
PMCID: PMC2737177
DOI/URL:
Notes: --- - "Cited By (since 1996): 4" - "Export Date: 30 November 2010" - "CODEN: CEBPE" - "Source: Scopus"
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  1. Mia Gaudet
    16 Gaudet