Epidemiology and Genomics of Health Disparities

对于拉丁裔乳腺癌研究，我们与诺伊豪森博士和Ziv博士合作，对拉丁裔乳腺癌组织病例和对照进行全基因组测序（WES）。 这项研究确定了常见的拷贝数扩增基因和常见的缺失基因。正在进行进一步分析，以确定这些样本中的显著基因突变（AACR Cancer Health Disparities accepted abstract 2019）。 在波多黎各人早发性结直肠癌研究中，我们与Cruz-Correa博士合作，对拉丁美洲人的结直肠癌组织病例和对照进行了WES。这项研究发现，许多已鉴定的突变并不位于外显子中。 调控基因表达的基因组学区域的变异可能提示早发性癌变。（摘要发表在Gastroenterology 2019）。 另一项针对不同乳腺癌患者的研究表明，驱动乳腺腔分化的调控网络在与临床结局的相关性方面表现出种族特异性差异。这表明生物标志物及其下游调节子将阐明导致乳腺癌生存种族差异的内在机制。（Mandarin pt在临床癌症研究中出版，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).