To determine whether recent genome-wide association studies that reported 45 susceptibility loci in European women are also risk factors for
breast cancer in Chinese women. We selected and genotyped 40 single nucleotide polymorphisms (SNPs) using the Sequenom
iPlex platform in a female Chinese cohort of 2,901
breast cancer cases and 2,789 healthy controls. We evaluated these SNPs with the risk of
breast cancer and further by
estrogen receptor (ER) status,
progestin (PR) status, human
epidermal growth factor receptor-2 (HER-2) status, and four
breast cancer subtypes (
Luminal A type,
Luminal B type, HER-2 overexpression type and Basal-like type). We first confirmed that the SNP rs9693444 on 8p12 was associated with
breast cancer in Chinese women (P = 6.44 × 10(-4)). Furthermore, we identified four susceptibility loci that were associated with specific
tumor subtypes. Statistically significant differences were detected with the association of rs6828523 (4q34.1/ADAM29) with ER-positive
breast cancer (P = 1.27 × 10(-3)) and the association of rs4849887 (2q14.2) with PR-positive
breast cancer (P = 1.29 × 10(-3)). Of the four
breast cancer subtypes, the associations of rs12493607 (3p24.1/
TGFBR2) with HER-2 overexpression in
breast cancer (P = 1.09 × 10(-3)) and rs11075995 (16q12.2/FTO) with basal-like
breast cancer (P = 1.64 × 10(-4)) were statistically significant. This study is the first to show that these 5 susceptibility loci (8p12, 4q34.1/ADAM29, 2q14.2, 3p24.1/
TGFBR2, and 16q12.2/FTO) correlate with
breast cancer (overall and specific subtypes) in Chinese women, which has improved our understanding of the genetic basis of specific
breast cancer subtypes.