Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

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Mia M Gaudet, Roger L Milne, Angela Cox, Nicola J Camp, Ellen L Goode, Manjeet K Humphreys, Alison M Dunning, Jonathan Morrison, Graham G Giles, Gianluca Severi, Laura Baglietto, Dallas R English, Fergus J Couch, Janet E Olson, Xianshu Wang, Jenny Chang-Claude, Dieter Flesch-Janys, Sascha Abbas, Ramona Salazar, Arto Mannermaa & 32 others Vesa Kataja, Veli-Matti Kosma, Annika Lindblom, Sara Margolin, Tuomas Heikkinen, Kati Kämpjärvi, Kirsimari Aaltonen, Heli Nevanlinna, Natalia Bogdanova, Irina Coinac, Peter Schürmann, Thilo Dörk, Claus R Bartram, Rita K Schmutzler, Sandrine Tchatchou, Barbara Burwinkel, Hiltrud Brauch, Diana Torres, Ute Hamann, Christina Justenhoven, Gloria Ribas, José I Arias, Javier Benitez, Stig E Bojesen, Børge G Nordestgaard, Henrik L Flyger, Julian Peto, Olivia Fletcher, Nichola Johnson, Isabel Dos Santos Silva, Australian Ovarian Cancer Study Group, Breast Cancer Association Consortium

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.
Original languageEnglish
JournalCancer Epidemiology, Biomarkers & Prevention
Volume18
Issue number5
Pages (from-to)1610-6
Number of pages7
ISSN1055-9965
DOIs
Publication statusPublished - 2009

Bibliographical note

Keywords: Alleles; BH3 Interacting Domain Death Agonist Protein; Breast Neoplasms; Case-Control Studies; Caspase 10; DNA-Binding Proteins; Europe; Female; Genetic Predisposition to Disease; Genotype; Humans; Intracellular Signaling Peptides and Proteins; Logistic Models; Nuclear Proteins; Polymorphism, Single Nucleotide; Risk; Tumor Necrosis Factor-alpha

ID: 20543645