Abstract
BackgroundA recent genome-wide association study (GWAS) has identified three new breast cancer susceptibility loci at 12p11, 12q24 and 21q21 in populations of European descent. However, because of the genetic heterogeneity, it is largely unknown for the role of these loci in the breast cancer susceptibility in the populations of non-European descent.Methodology/Principal FindingsHere, we genotyped three variants (rs10771399 at 12p11, rs1292011 at 12q24 and rs2823093 at 21q21) in an independent case–control study with a total of 1792 breast cancer cases and 1867 cancer-free controls in a Chinese population. We found that rs10771399 and rs1292011 were significantly associated with risk of breast cancer with per-allele odds ratios (ORs) of 0.85 (95% confidence interval (CI): 0.76–0.96; P = 0.010) and 0.84 (95% CI: 0.76–0.95; P = 4.50×10−3), respectively, which was consistent with those reported in populations of European descent. Similar effects were observed between ER/PR positive and negative breast cancer for both loci. However, we did not found significant association between rs2823093 and breast cancer risk (OR = 0.97, 95%CI = 0.76–1.24; P = 0.795).Conclusions/SignificanceOur results indicate that genetic variants at 12p11 and 12q24 may also play an important role in breast cancer development in Chinese women.
Highlights
Breast cancer is the most frequently diagnosed cancer and the leading cause of cancer death among women around the world, accounting for 23% of the new cancer cases and 14% of the cancer deaths in 2008 [1]
The G allele of rs10771399 and the G allele of rs1292011 were associated with a decreased risk of breast cancer, which are consistent with those reported by Maya et al.[16]
We evaluated the associations of genetic variants at 12p11, 12q24 and 21q21 with breast cancer susceptibility in an independent case–control study with 1792 breast cancer cases and 1867 controls in a Chinese population
Summary
Breast cancer is the most frequently diagnosed cancer and the leading cause of cancer death among women around the world, accounting for 23% of the new cancer cases and 14% of the cancer deaths in 2008 [1]. Over the last 5 years, as a powerful method to investigate the genetic determinants of complex diseases, genome-wide association studies (GWAS) have successfully identified more than 20 common susceptibility loci of breast cancer [4,5,6,7,8,9,10,11,12,13,14,15]. A recent genome-wide association study (GWAS) has identified three new breast cancer susceptibility loci at 12p11, 12q24 and 21q21 in populations of European descent. Because of the genetic heterogeneity, it is largely unknown for the role of these loci in the breast cancer susceptibility in the populations of non-European descent
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