Epidemiology and Genomics of Health Disparities

在拉丁裔乳腺癌研究中，我们与Neuhausen和Ziv博士合作，对拉丁裔乳腺癌组织病例和对照进行了全基因组测序(WES)。本研究确定了常见的拷贝数扩增基因和常见的缺失基因。进一步的分析正在进行中，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)。 在波多黎各人的早发性结直肠癌研究中，我们与Cruz-Correa博士合作，对来自拉丁美洲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。调控基因表达的基因组区域的变化可能预示着早发性癌症的发生。(摘要发表在《胃肠病学2019》上)。 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节网络在与临床结果的相关性方面表现出种族特异性的差异。这表明生物标记物及其下游调控将阐明导致乳腺癌存活率种族差异的内在机制。(手稿在2019年《临床癌症研究》上)。

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).