Abstract PR03: Somatic mutations and ancestry markers in Hispanic lung cancer patients

W. Cress, Nicholas T. Gimbrone, Bhaswati Sarcar, E. Gordián, J. Rivera, C. López, J. Teer, E. Welsh, A. Chiappori, M. Schabath, G. Reuther, Pedro G Santiago-Cardona
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Abstract

Introduction: Hispanics are projected to constitute 23% of the U.S. population by 2050. However, large-scale sequencing projects, such as The Cancer Genome Atlas (TCGA), provide little information on this ethnic population. In fact, only seven out of over 500 lung adenocarcinoma tumors sequenced in the TCGA database are reported to be Hispanic. To address the lack of genomic data from Hispanic/Latino patients with lung cancer, the Latino Lung Cancer Registry was established to collect patient data and biospecimens from these patients. Methods: This retrospective observational study examined lung cancer tumor samples from 163 Hispanic/Latino patients, and tumor-derived DNA was subjected to targeted-exome sequencing (>1000 genes, including EGFR, KRAS, STK11, and TP53) and ancestry analysis. Mutation frequencies in this Hispanic/Latino cohort were compared with those in a similar cohort of non-Hispanic white (NHW) patients. Novel mutations in EGFR were functionally characterized, and mutation rates were correlated with ancestry, patient sex, smoking status, and tumor histology. Results: Among adenocarcinomas (n=120) in the Hispanic/Latino cohort, 31% had EGFR mutations versus 17% in the NHW control group (p Conclusions: Driver mutations in Hispanic/Latino lung adenocarcinoma patients differ in frequency from those in NHWs associated with their Indigenous American ancestry. The spectrum of driver mutations needs to be further assessed in the Hispanic/Latino population. Citation Format: William D. Cress, Nicholas T. Gimbrone, Bhaswati Sarcar, Edna Gordian, Jason I. Rivera, Christian Lopez, Jamie K. Teer, Eric A. Welsh, Alberto A. Chiappori, Matthew B. Schabath, Gary W. Reuther, Pedro G. Santiago-Cardona. Somatic mutations and ancestry markers in Hispanic lung cancer patients [abstract]. In: Proceedings of the Tenth AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2017 Sep 25-28; Atlanta, GA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2018;27(7 Suppl):Abstract nr PR03.
PR03:西班牙裔肺癌患者的体细胞突变和血统标记
到2050年,西班牙裔预计将占美国人口的23%。然而,大规模的测序项目,如癌症基因组图谱(TCGA),提供的信息很少。事实上,据报道,TCGA数据库中超过500例肺腺癌肿瘤中只有7例是西班牙裔。为了解决缺乏西班牙裔/拉丁裔肺癌患者基因组数据的问题,建立了拉丁裔肺癌登记处,以收集这些患者的患者数据和生物标本。方法:这项回顾性观察性研究检查了163名西班牙裔/拉丁裔患者的肺癌肿瘤样本,对肿瘤来源的DNA进行了靶向外显子组测序(超过1000个基因,包括EGFR、KRAS、STK11和TP53)和祖先分析。将该西班牙裔/拉丁裔队列中的突变频率与类似的非西班牙裔白人(NHW)患者队列中的突变频率进行比较。EGFR的新突变具有功能特征,突变率与祖先、患者性别、吸烟状况和肿瘤组织学相关。结果:在西班牙裔/拉丁裔队列的腺癌(n=120)中,31%的患者发生EGFR突变,而NHW对照组为17% (p结论:西班牙裔/拉丁裔肺腺癌患者的驱动突变频率与与美洲原住民血统相关的NHW患者不同。驱动突变谱需要在西班牙裔/拉丁裔人群中进一步评估。引文格式:William D. Cress, Nicholas T. Gimbrone, Bhaswati Sarcar, Edna Gordian, Jason I. Rivera, Christian Lopez, Jamie K. Teer, Eric A. Welsh, Alberto A. Chiappori, Matthew B. Schabath, Gary W. Reuther, Pedro G. Santiago-Cardona。西班牙裔肺癌患者的体细胞突变和血统标记[摘要]。见:第十届AACR会议论文集:种族/少数民族和医疗服务不足人群的癌症健康差异科学;2017年9月25-28日;亚特兰大,乔治亚州。费城(PA): AACR;Cancer epidemiology Biomarkers pre2018;27(7增刊):摘要nr PR03。
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