TY - JOUR
T1 - Commonly studied single-nucleotide polymorphisms and breast cancer
T2 - Results from the Breast Cancer Association Consortium
AU - Australian Breast Cancer Family Study
AU - British Breast Cancer Study
AU - Copenhagen Breast Cancer Study
AU - GENICA
AU - Hannover Bilateral Breast Cancer Study
AU - Genetic Epidemiologic Study of Breast Cancer by Age 50
AU - Helsinki Breast Cancer Study
AU - International Agency for Research on Cancer Breast Cancer Study in Thailand
AU - Kuopio Breast Cancer Project
AU - Mayo Clinic Breast Cancer Study
AU - National Cancer Institute Breast Cancer Study in Poland
AU - US Three-State Breast Cancer Study
AU - Studies of Epidemiology and Risk Factors in Cancer Heredity
AU - Seoul Breast Cancer Study
AU - Sei Hyun Ahn, Ulsan University. Sheffi eld Breast Cancer Study
AU - Spanish National Cancer Centre Breast Cancer Study
AU - US Radiologic Technologists Study
AU - Pharoah, Paul
AU - Georgia, C. T.
AU - Spurdle, Amanda B.
AU - Xiaoqing, C.
AU - Hopper, John L.
AU - Olivia, Fletcher
AU - Nichola, Johnson
AU - Claire, Palles
AU - Julian, Peto
AU - dos Santos Silva, Isabel
AU - Bojesen, Stig E.
AU - Nordestgaard, Børge G.
AU - Axelsson, Christen K.
AU - Ute, Hamann
AU - Rashid, Muhammad U.
AU - Christina, Justenhoven
AU - Hiltrud, Brauch
AU - Yon, Ko
AU - Beate, Pesch
AU - Thilo, Dörk
AU - Sandra, Beussel
AU - Katrin, Gerriets
AU - Michael, Bremer
AU - Jenny, Chang Claude
AU - Shan, Wang Gohrke
AU - Heli, Nevanlinna
AU - Johanna, Tommiska
AU - Rainer, Fagerholm
AU - Carl, Blomqvist
AU - Hughes, David J.
AU - Fabrice, Odefrey
AU - Valerie, Gaborieau
AU - Paul, Brennan
AU - Suleeporn, Sangrajrang
AU - Arto, Mannermaa
AU - Vesa, Kataja
AU - Kosma, Veli Matti
AU - Couch, Fergus J.
AU - Goode, Ellen L.
AU - Janet, Olson
AU - Sellers, Thomas A.
AU - Montserrat, Garcia Closas
AU - Jolanta, Lissowska
AU - Sklodowska-Curie, M.
AU - Stephen, Chanock
AU - Beata, Peplonska
AU - Montserrat, Garcia Closas
AU - Egan, Kathleen M.
AU - Newcomb, Polly A.
AU - Linda, Titus Ernstoff
PY - 2006/10/4
Y1 - 2006/10/4
N2 - Background: The Breast Cancer Association Consortium (BCAC) is an international collaboration that was established to provide large sample sizes for examining genetic associations. We conducted combined analyses on all single-nucleotide polymorphisms (SNPs) whose associations with breast cancer have been investigated by at least three participating groups. Methods: Data from up to 12 studies were pooled for each SNP (ADH1C I350V, AURKA F31I, BRCA2 N372H, CASP8 D302H, ERCC2 D312N, IGFBP3 -202 c>a, LIG4 D501D, PGR V660L, SOD2 V16A, TGFB1 L10P, TP53 R72P, XRCC1 R399Q, XRCC2 R188H, XRCC3 T241M, XRCC3 5′ UTR, and XRCC3 IVS7-14). Genotype frequencies in case and control subjects were compared, and genotype-specific odds ratios for the risk of breast cancer in heterozygotes and homozygotes for the rare allele compared with homozygotes for the common allele were estimated with logistic regression. Statistical tests were two-sided. Results: The total number of subjects for analysis of each SNP ranged from 12 013 to 31 595. For five SNPs - CASP8 D302H, IGFBP3 -202 c>a, PGR V660L, SOD2 V16A, and TGFB1 L10P - the associations with breast cancer were of borderline statistical significance (P = .016, .060, .047, .056, and .0088 respectively). The remaining 11 SNPs were not associated with breast cancer risk; genotype-specific odds ratios were close to unity. There was some evidence for between-study heterogeneity (P<.05) for four of the 11 SNPs (ADH1C I350V, ERCC2 D312N, XRCC1 R399Q, and XRCC3 IVS5-14). Conclusion: Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer. In the future, consortia such as the BCAC will be important in the analysis of rare polymorphisms and gene × gene or gene × environment interactions, for which individual studies have low power to identify associations, and in the validation of associations identified from genome-wide association studies.
AB - Background: The Breast Cancer Association Consortium (BCAC) is an international collaboration that was established to provide large sample sizes for examining genetic associations. We conducted combined analyses on all single-nucleotide polymorphisms (SNPs) whose associations with breast cancer have been investigated by at least three participating groups. Methods: Data from up to 12 studies were pooled for each SNP (ADH1C I350V, AURKA F31I, BRCA2 N372H, CASP8 D302H, ERCC2 D312N, IGFBP3 -202 c>a, LIG4 D501D, PGR V660L, SOD2 V16A, TGFB1 L10P, TP53 R72P, XRCC1 R399Q, XRCC2 R188H, XRCC3 T241M, XRCC3 5′ UTR, and XRCC3 IVS7-14). Genotype frequencies in case and control subjects were compared, and genotype-specific odds ratios for the risk of breast cancer in heterozygotes and homozygotes for the rare allele compared with homozygotes for the common allele were estimated with logistic regression. Statistical tests were two-sided. Results: The total number of subjects for analysis of each SNP ranged from 12 013 to 31 595. For five SNPs - CASP8 D302H, IGFBP3 -202 c>a, PGR V660L, SOD2 V16A, and TGFB1 L10P - the associations with breast cancer were of borderline statistical significance (P = .016, .060, .047, .056, and .0088 respectively). The remaining 11 SNPs were not associated with breast cancer risk; genotype-specific odds ratios were close to unity. There was some evidence for between-study heterogeneity (P<.05) for four of the 11 SNPs (ADH1C I350V, ERCC2 D312N, XRCC1 R399Q, and XRCC3 IVS5-14). Conclusion: Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer. In the future, consortia such as the BCAC will be important in the analysis of rare polymorphisms and gene × gene or gene × environment interactions, for which individual studies have low power to identify associations, and in the validation of associations identified from genome-wide association studies.
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U2 - 10.1093/jnci/djj374
DO - 10.1093/jnci/djj374
M3 - Article
C2 - 17018785
AN - SCOPUS:33749571327
SN - 0027-8874
VL - 98
SP - 1382
EP - 1396
JO - Journal of the National Cancer Institute
JF - Journal of the National Cancer Institute
IS - 19
ER -