Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.
Cancer Res. 2011 Oct 1;71(19):6240-9. doi: 10.1158/0008-5472.CAN-11-1266. Epub 2011 Aug 15.
Triple-negative breast cancers are an aggressive subtype of breast cancer with poor survival, but there remains little known about the etiologic factors that promote its initiation and development. Commonly inherited breast cancer risk factors identified through genome-wide association studies display heterogeneity of effect among breast cancer subtypes as defined by the status of estrogen and progesterone receptors. In the Triple Negative Breast Cancer Consortium (TNBCC), 22 common breast cancer susceptibility variants were investigated in 2,980 Caucasian women with triple-negative breast cancer and 4,978 healthy controls. We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.1), and rs8100241 (19p13.1), significantly associated with the risk of triple-negative breast cancer. Together, our results provide convincing evidence of genetic susceptibility for triple-negative breast cancer.
三阴性乳腺癌是一种侵袭性乳腺癌亚型，生存预后较差，但对于促进其发生和发展的病因因素知之甚少。通过全基因组关联研究确定的常见遗传性乳腺癌风险因素在根据雌激素和孕激素受体状态定义的乳腺癌亚型中显示出效应异质性。在三阴性乳腺癌联盟（TNBCC）中，在 2,980 名患有三阴性乳腺癌的白种女性和 4,978 名健康对照中研究了 22 个常见的乳腺癌易感性变异。我们确定了六个单核苷酸多态性，包括 rs2046210（ESR1）、rs12662670（ESR1）、rs3803662（TOX3）、rs999737（RAD51L1）、rs8170（19p13.1）和 rs8100241（19p13.1），与三阴性乳腺癌的风险显著相关。总之，我们的结果提供了三阴性乳腺癌遗传易感性的令人信服的证据。
