仅在患有出生缺陷和并发性恶性瘤的儿童中发现的基因组变异会导致癌症发展
Yichuan Liu1, Hui-Qi Qu2, Xiao Chang2
1Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, 3615 Civic Center Blvd Abramson Building, Philadelphia, PA, 19104, USA. liuy5@email.chop.edu.
Molecular cancer
|August 5, 2023
概括
患有出生缺陷 (BD) 的儿童的遗传变异与癌症发展有关. 这项全基因组测序研究确定了蛋白质编码和非编码RNA的独家复发变异,为BD患者的儿科癌症风险提供了洞察力.
科学领域:
- 遗传学 遗传学 是一个
- 儿科瘤学 儿科瘤学
- 基因组医学是基因组医学.
背景情况:
- 患有出生缺陷 (BD) 的儿童患癌症的风险增加.
- 了解BD患者癌症的遗传基础对于制定预防策略至关重要.
研究的目的:
- 识别和分析出生缺陷儿童的独家复发基因变异,区分患有癌症和没有癌症的儿童.
- 探索这些变异在BD患者儿科癌症发展中的作用.
主要方法:
- 全基因组测序 (WGS) 在来自1566个个体的DNA样本上进行:454名患有癌症的BD试验者,767名无癌症的BD试验者和345名健康对照者.
- 分析的重点是识别蛋白质编码和非编码RNA (ncRNA) 区域的排他性反复变异,包括外子,内子和未翻译区域 (UTR).
主要成果:
- 专属变异的统计学上显著的重叠在外子,内子,ncRNA和3'UTR区域内的蛋白质编码/ncRNA基因中被发现.
- 独家的外基变异,特别是同名变异,在BD癌症儿童中得到了丰富.
- 具有5' UTR变异的基因显示了BD癌症和BD单独表型之间的近乎相互排他性.
结论:
- 这项研究是首次对具有或没有癌症的BD独有的变异进行基因组调查.
- 丰富特定的蛋白质编码/ncRNAs在表型之间差异表达表明不同的遗传因素有助于儿童BD癌症.
- 研究结果强调了针对这一群体的基因查和预防措施的潜力.
相关概念视频
02:59Cancer Prevention
6.2K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.2K
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
7.5K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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...
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...
7.5K
02:21Cancers Originate from Somatic Mutations in a Single Cell
12.0K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
12.0K
01:33Cancer-Critical Genes I: Proto-oncogenes
9.0K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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...
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...
9.0K
01:20The Retinoblastoma Gene
4.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
01:06Induced Pluripotent Stem Cells
4.2K
Stem cells are undifferentiated cells that divide and produce different cell types. Ordinarily, cells that have differentiated into a specific cell type are terminally differentiated; however, scientists have found a way to reprogram these mature cells so that they dedifferentiate and return to an unspecialized, proliferative state. These cells are pluripotent like embryonic stem cells—able to produce all cell types—and are called induced pluripotent stem cells (iPSCs).
Somatic...
Somatic...
4.2K