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

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 MannermaaVesa 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, Peter A. Fasching, Matthias W. Beckmann, Reiner Strick, Arif B. Ekici, Annegien Broeks, Marjanka K. Schmidt, Flora E. Van Leeuwen, Laura J. Van't Veer, Melissa C. Southey, John L. Hopper, Carmel Apicella, Christopher A. Haiman, Brian E. Henderson, Loic Le Marchand, Laurence N. Kolonel, Vessela Kristensen, Grethe Grenaker Alnæs, David J. Hunter, Peter Kraft, David G. Cox, Susan E. Hankinson, Caroline Seynaeve, Maaike P.G. Vreeswijk, Rob A.E.M. Tollenaar, Peter Devilee, Stephen Chanock, Jolanta Lissowska, Louise Brinton, Beata Peplonska, Kamila Czene, Per Hall, Yuqing Li, Jianjun Liu, Sabapathy Balasubramanian, Saeed Rafii, Malcolm W.R. Reed, Karen A. Pooley, Don Conroy, Caroline Baynes, Daehee Kang, Keun Young Yoo, Dong Young Noh, Sei Hyun Ahn, Chen Yang Shen, Hui Chun Wang, Jyh Cherng Yu, Pei Ei Wu, Hoda Anton-Culver, Argyrios Ziogoas, Kathleen Egan, Polly Newcomb, Linda Titus-Ernstoff, Amy Trentham Dietz, Alice J. Sigurdson, Bruce H. Alexander, Parveen Bhatti, Kristina Allen-Brady, Lisa A. Cannon-Albright, Jathine Wong, Georgia Chenevix-Trench, Amanda B. Spurdle, Jonathan Beesley, Paul D.P. Pharoah, Doug F. Easton, Montserrat Garcia-Closas

Research output: Contribution to journalArticlepeer-review


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 (US)
Pages (from-to)1610-1616
Number of pages7
JournalCancer Epidemiology Biomarkers and Prevention
Issue number5
StatePublished - May 2009
Externally publishedYes

ASJC Scopus subject areas

  • Epidemiology
  • Oncology


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