瘤突变特征揭示了具有EGFR或KRAS突变的肺腺癌的危险因素
Jialiang Wang1,2, Chang Guo1,2, Jiexiao Wang1,2
1School of Basic Medical Sciences, Anhui Medical University, Hefei, China.
瘤突变特征 (TMS) 分析显示,吸烟与具有KRAS突变的肺腺癌 (LUAD) 有关. 在LUAD中的EGFR突变与DNA修复缺陷和细胞因子去胺相关,特别是在亚洲患者中.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
背景情况:
- 肺腺癌 (LUAD) 经常携带EGFR和KRAS突变.
- 瘤突变特征 (TMS) 分析识别了与致病因素相关的体质突变模式.
- 了解这些因素对于LUAD的发病过程至关重要.
研究的目的:
- 通过使用TMS分析,研究带有EGFR和KRAS突变的LUAD的潜在病原性因素.
- 为了区分EGFR和KRAS突变LUAD之间的突变特征.
- 探索突变过程中的特定种群差异.
主要方法:
- 对LUAD数据集 (TCGA,OncoSG,MSK) 的回顾性分析.
- 使用生物信息学工具"突变模式"和"FitMS"确定TMS.
- 通过毛细管电泳分析,分析在选择的四核酸重复 (EMAST) 上升的微卫星变化.
主要成果:
- 与KRAS突变的LUAD显示了与吸烟相关的SBS4特征的丰富.
- 与EGFR L858R突变相关的LUAD在西方人群中显示SBS4丰富,但在亚洲人群中没有.
- 在LUAD中EGFR exon19删除 (19Del) 与SBS15签名 (缺陷DNA不匹配修复) 和EMAST不稳定性有关.
- 患有EGFR突变的亚洲LUAD患者表现出SBS1,SBS2和SBS13特征的丰富,这表明内源性细胞脱胺.
结论:
- 吸烟与KRAS突变的LUAD有关.
- 缺陷的DNA不匹配修复和内源性cytidine脱胺与EGFR突变的LUAD有关,特别是在19Del.
- 与西方患者相比,亚洲LUAD患者表现出更强烈的内源性突变过程.
更多相关视频
13:34A Combined 3D Tissue Engineered In Vitro/In Silico Lung Tumor Model for Predicting Drug Effectiveness in Specific Mutational Backgrounds
Published on: April 6, 2016
11:20Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology
Published on: March 21, 2018
相关概念视频
Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Cancer Prevention
Some...
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Cancers Originate from Somatic Mutations in a Single Cell
lncRNA - Long Non-coding RNAs
