Biomarker and Phenotypic Risk Factors for Breast Cancer Lymphedema

 描述(申请人提供)：乳腺癌治疗后的淋巴水肿(LE)是工业化世界中最常见的继发性淋巴水肿。在乳腺癌治疗后，20%到87%的患者会发生这种情况，并导致严重的残疾。在 目前，将患者置于LE发生风险最高的表型、遗传型和表型预测因子尚不清楚。因此，这项研究的具体目的是在乳腺癌治疗后的患者样本中：使用候选基因方法确定LE的遗传预测因素，并评估与LE诊断相关的候选基因中的表观遗传学变化，如DNA甲基化和随后的基因表达。这项研究的次要目标是：评估具有不同表型预测因子的潜在类别的女性；评估患有和不患有LE的女性之间以及患有LE的潜在类别之间在症状、功能状态和生活质量结果方面的差异。这项研究的结果将为LE的潜在机制提供新的信息，并允许开发和测试新的方法来预防或减少LE的负面影响。

 DESCRIPTION (provided by applicant): Lymphedema (LE) following treatment for breast cancer is the most common form of secondary LE in the industrialized world. It occurs in 20% to 87% of patients following treatment for breast cancer and results in significant disability. At the present time, the definitive phenotypic, genotypic and epigenotypic predictors that place patients at highest risk for the development of LE are not known. Therefore, the specific aims of this study, in a sample of patients following treatment for breast cancer, are to: determine genetic predictors of LE using a candidate gene approach and evaluate for epigenetic changes, as measured by DNA methylation and subsequent gene expression, in candidate genes associated with the diagnosis of LE. The secondary aims of this study are to: evaluate for latent classes of women with distinct phenotypic predictors of LE; and evaluate for differences in symptoms, functional status, and QOL outcomes between women with and without LE and among the latent classes with LE. The results of this study will provide new information on the underlying mechanisms for LE and allow for the development and testing of novel approaches to prevent or reduce the negative effects of LE.