Department of General Surgery, Affiliated Union Hospital of Fujian Medical University, Union Clinical School, Fujian Medical University, Fuzhou, PR China.
Tohoku J Exp Med. 2012 Mar;226(3):221-9. doi: 10.1620/tjem.226.221.
Fibroblast growth factor receptor 2 (FGFR2) plays an important role in tumor cell growth, invasiveness, motility, and angiogenesis. Several single-nucleotide polymorphisms (SNPs) in the second intron of the FGFR2 gene are associated with the risk of breast cancer. In this study, we determined whether these SNPs of the FGFR2 gene are associated with early onset of non-familial breast cancer in a Chinese Han population. Recruited were 118 female breast cancer patients who were less than or equal to 35 years of age and without a family history of breast cancer, and 104 age-matched healthy controls. Six SNPs of the second intron of the FGFR2 gene, including rs2981428C/A (i.e., a change at this particular site from nucleotide C to A), rs11200014G/A, rs2981579C/T, rs1219648A/G, rs2420946C/T, and rs2981582C/T, were detected using matrix-assisted laser desorption/ionization mass spectrometry. The data showed that the homozygotes at each minor allele, rs11200014 (AA), rs1219648 (GG), rs2420946 (TT), and rs2981582 (TT), were significantly associated with an increased risk of early-onset non-familial breast cancer. The haplotype containing rs11200014A, rs1219648G, rs2420946T and rs2981582T also exhibited a significantly higher distribution in patients compared to controls (OR=1.784, 95% CI=1.161-2.744). In stratified analyses, each of the above four SNPs conferred a significantly greater risk of estrogen receptor-positive breast cancer, compared to estrogen receptor-negative breast cancer that is more resistant to treatment. Our data demonstrate that these four SNPs of the FGFR2 gene are associated with the risk of breast cancer at a young age in Chinese Han women.
成纤维细胞生长因子受体 2（FGFR2）在肿瘤细胞生长、侵袭、运动和血管生成中发挥重要作用。FGFR2 基因第二内含子中的几个单核苷酸多态性（SNP）与乳腺癌风险相关。在这项研究中，我们确定了 FGFR2 基因中的这些 SNP 是否与中国汉族人群中非家族性乳腺癌的早发有关。招募了 118 名年龄不超过 35 岁且无乳腺癌家族史的女性乳腺癌患者和 104 名年龄匹配的健康对照者。使用基质辅助激光解吸/电离质谱法检测了 FGFR2 基因第二内含子中的 6 个 SNP，包括 rs2981428C/A（即该特定位点的核苷酸从 C 变为 A）、rs11200014G/A、rs2981579C/T、rs1219648A/G、rs2420946C/T 和 rs2981582C/T。数据显示，每个次要等位基因 rs11200014（AA）、rs1219648（GG）、rs2420946（TT）和 rs2981582（TT）的纯合子与早发性非家族性乳腺癌的风险增加显著相关。包含 rs11200014A、rs1219648G、rs2420946T 和 rs2981582T 的单倍型在患者中的分布也显著高于对照组（OR=1.784，95%CI=1.161-2.744）。在分层分析中，与雌激素受体阴性乳腺癌（对治疗更具抵抗力）相比，上述四个 SNP 中的每一个都与雌激素受体阳性乳腺癌的风险显著增加相关。我们的数据表明，FGFR2 基因中的这四个 SNP 与中国汉族女性年轻时患乳腺癌的风险相关。
