Epidemiology and Genomics of Health Disparities

在拉丁裔乳腺癌研究中，我们与。Neuhausen和Ziv对拉丁裔乳腺癌组织病例和对照进行了全基因组测序（WES）。本研究鉴定了常见拷贝数扩增基因和常见缺失基因。正在进行进一步的分析，以从这些样本中确定重要的基因突变（AACR癌症健康差异接受摘要2019）。

For the Latina Breast Cancer Study, we collaborated with Drs. Neuhausen and Ziv to conduct whole genome sequencing (WES) of breast cancer tissue cases and controls from Latinas. This study identified common copy number amplified genes and commonly deleted genes. Further analyses are in progress to identify significant gene mutations from these samples (AACR Cancer Health Disparities accepted abstract 2019). In the Early Onset Colorectal Cancer Study among Puerto Ricans study , we collaborated with Drs. Cruz-Correa to conduct WES of colorectal cancer tissue cases and controls from Latinos. This study found that many mutations that were identified, were not located in exons. Variations in genomics regions that regulate gene expression may suggest to early-onset carcinogenesis. (Abstract published in Gastroenterology 2019). Another study among diverse breast cancer patients, demonstrated that regulatory networks that drive mammary luminal differentiation exhibit race-specific differences in their associations with clinical outcome. It suggests that the biomarkers and their downstream regulons will elucidate the intrinsic mechanisms that drive racial disparities in breast cancer survival. (Manuscript is in press in Clinical Cancer Research, 2019).