头部和部状细胞癌的突变格局
Nicolas Stransky1, Ann Marie Egloff, Aaron D Tward
1The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
概括
这项研究分析了头部和部状细胞癌 (HNSCC) 突变,揭示了参与状细胞分化的关键基因. 研究结果表明,这些基因在HNSCC发育中的失调,为癌症机制提供了新的见解.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 头角状细胞癌 (HNSCC) 是癌症发病率和死亡率的重要原因.
- 了解HNSCC的遗传基础对于开发有效的治疗策略至关重要.
研究的目的:
- 综合分析HNSCC.的突变谱.
- 为了确定涉及HNSCC致癌的新基因和途径.
- 研究状分化基因在HNSCC发育中的作用.
主要方法:
- 74个瘤正常HNSCC对的全外体测序.
- 分析突变资料以确定遗传变异.
- 在瘤样本中检测人类乳头瘤病毒 (HPV) DNA.
主要成果:
- 确定了与烟草暴露和HPV感染相一致的突变特征.
- 在已知的HNSCC驱动基因 (例如TP53,CDKN2A,PTEN,PIK3CA,HRAS) 中确认了突变.
- 在至少30%的病例中发现了调节状分化基因 (例如,NOTCH1,IRF6,TP63) 的突变,这意味着它们在HNSCC中失调.
结论:
- 状分化通路的失调是HNSCC的主要驱动因素.
- 大规模测序是揭示基本癌症机制的强大工具.
- 这些发现为HNSCC研究和潜在的治疗干预提供了新的目标.
更多相关视频
相关概念视频
Cancers Originate from Somatic Mutations in a Single Cell
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...
Cancers Originate from Somatic Mutations in a Single Cell
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...
Mismatch Repair
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Cancer
Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.
Mutations
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Cancer-Critical Genes II: Tumor Suppressor Genes
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...


