Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium.
Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium.
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五种多态性和乳腺癌风险：乳腺癌协会联盟的结果。
DOI：
10.1158/1055-9965.epi-08-0745
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发表时间：
2009-05
期刊：
影响因子：
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通讯作者：
Breast Cancer Association Consortium
中科院分区：
文献类型：
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作者：
Gaudet MM;Milne RL;Cox A;Camp NJ;Goode EL;Humphreys MK;Dunning AM;Morrison J;Giles GG;Severi G;Baglietto L;English DR;Couch FJ;Olson JE;Wang X;Chang-Claude J;Flesch-Janys D;Abbas S;Salazar R;Mannermaa A;Kataja V;Kosma VM;Lindblom A;Margolin S;Heikkinen T;Kämpjärvi K;Aaltonen K;Nevanlinna H;Bogdanova N;Coinac I;Schürmann P;Dörk T;Bartram CR;Schmutzler RK;Tchatchou S;Burwinkel B;Brauch H;Torres D;Hamann U;Justenhoven C;Ribas G;Arias JI;Benitez J;Bojesen SE;Nordestgaard BG;Flyger HL;Peto J;Fletcher O;Johnson N;Dos Santos Silva I;Fasching PA;Beckmann MW;Strick R;Ekici AB;Broeks A;Schmidt MK;van Leeuwen FE;Van't Veer LJ;Southey MC;Hopper JL;Apicella C;Haiman CA;Henderson BE;Le Marchand L;Kolonel LN;Kristensen V;Grenaker Alnaes G;Hunter DJ;Kraft P;Cox DG;Hankinson SE;Seynaeve C;Vreeswijk MP;Tollenaar RA;Devilee P;Chanock S;Lissowska J;Brinton L;Peplonska B;Czene K;Hall P;Li Y;Liu J;Balasubramanian S;Rafii S;Reed MW;Pooley KA;Conroy D;Baynes C;Kang D;Yoo KY;Noh DY;Ahn SH;Shen CY;Wang HC;Yu JC;Wu PE;Anton-Culver H;Ziogoas A;Egan K;Newcomb P;Titus-Ernstoff L;Trentham Dietz A;Sigurdson AJ;Alexander BH;Bhatti P;Allen-Brady K;Cannon-Albright LA;Wong J;Australian Ovarian Cancer Study Group;Chenevix-Trench G;Spurdle AB;Beesley J;Pharoah PD;Easton DF;Garcia-Closas M;Breast Cancer Association Consortium
先前的研究表明，ERCC 4 rs744154、TNF rs361525、CASP 10 rs 13010627、PGR rs 1042838和BID rs 8190315的次要等位基因可能影响乳腺癌风险，但由于样本量小，证据不确定。这些多态性在超过30，000例乳腺癌病例和30，000例对照中进行了基因分型，主要是欧洲血统，来自乳腺癌协会联盟的30项研究。我们计算了比值比（OR）和95%置信区间（95%CI）作为相关性的指标。我们发现，这些多态性的次要等位基因与欧洲血统女性总体浸润性乳腺癌风险无关：ECCR 4每等位基因OR（95%CI）= 0.99（0.97-1.02），次要等位基因频率= 27.5%; TNF 1.00（0.95-1.06），5.0%; CASP 10 1.02（0.98-1.07），6.5%; PGR 1.02（0.99-1.06），15.3%; BID 0.98（0.86-1.12），1.7%。然而，我们观察到CASP 10、PGR和BID中单核苷酸多态性（SNP）与风险相关的显著研究间异质性。亚洲和非洲裔女性的估计值不精确，因为数量少，次要等位基因频率较低（BID SNP除外）。每个拷贝的次要等位基因的OR值在雌激素或孕激素受体状态下没有显著差异，多态性与年龄或乳腺癌家族史之间也没有任何显著的相互作用。总之，我们的数据提供了有说服力的证据，反对欧洲血统女性中浸润性乳腺癌风险与ERCC 4 rs744154，TNF rs361525，CASP 10 rs 13010627，PGR rs 1042838和BID rs 8190315基因型之间的总体关联。
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.