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Recent investigations have suggested that common genetic polymorphisms in BRCA1-associated C-terminal helicase 1 (BACH1) are important in the development of breast cancer. However, individually published studies and previous meta-analyses have demonstrated inconclusive results. The aim of this meta-analysis was to derive a more precise estimation of the correlation between a common polymorphism [proline (Pro) 919 serine (Ser); rs4986764 C&gt;T] in the BACH1 gene and susceptibility to breast cancer. A literature search of PubMed, Embase, Web of Science and Chinese BioMedicine (CBM) databases was conducted on articles published prior to March 1, 2013. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Eleven case-control studies were included with a total of 6,903 breast cancer cases and 8,154 healthy controls. The meta-analysis results revealed that the BACH1 919Ser polymorphism may be correlated with a decreased risk of breast cancer among Caucasian populations (Ser allele versus Pro allele: OR=0.90, 95% CI=0.86-0.95; Pro/Ser + Ser/Ser versus Pro/Pro: OR=0.90, 95% CI=0.84-0.98; Ser/Ser versus Pro/Pro + Pro/Ser: OR=0.84, 95% CI=0.76-0.92; Ser/Ser versus Pro/Pro: OR=0.81, 95% CI=0.73-0.91; Ser/Ser versus Pro/Ser: OR=0.86, 95% CI=0.78-0.95), although not among Asian populations. Further subgroup analyses indicated that there were significant correlations between the BACH1 919Ser polymorphism and a decreased risk of breast cancer in postmenopausal females, females with a family history of breast cancer and females without BRCA1/2 mutations. Univariate and multivariate meta-regression analyses revealed that none of the factors explained the heterogeneity (all P&gt;0.05). The present meta-analysis suggested that the BACH1 919Ser polymorphism may decrease the risk of breast cancer among Caucasian populations, particularly in postmenopausal females with a family history of breast cancer and without BRCA1/2 mutations.

Correlation of the BACH1 Pro919Ser polymorphism with breast cancer risk: A literature-based meta-analysis and meta-regression analysis