主要黑色素瘤亚型的全基因组景观
Nicholas K Hayward1,2, James S Wilmott1,3, Nicola Waddell2,4
1Melanoma Institute Australia, The University of Sydney, North Sydney, Sydney, New South Wales 2065, Australia.
Nature
|May 4, 2017
概括
全基因组测序揭示了黑色素瘤的各种原因,包括皮肤癌的紫外线辐射以及粘膜和状黑色素瘤的未知因素. 非编码DNA突变在黑色素瘤的发展中起着重要作用.
科学领域:
- 基因组学
- 癌症学
- 皮肤病学
背景情况:
- 黑色素瘤亚型 (皮肤,,粘膜) 的总发病率不同.
- 了解各种黑色素瘤亚型的遗传基础对于向治疗至关重要.
研究的目的:
- 分析皮肤,膜和粘膜黑色素瘤的全基因组序列.
- 在黑色素瘤亚型中识别新的突变特征和受影响的基因.
- 探索非编码突变在黑色素瘤发病过程中的作用.
主要方法:
- 全基因组测序黑色素瘤亚型
- 对编码和非编码突变的分析.
- 鉴定突变特征和显著突变的基因.
主要成果:
- 皮肤黑色素瘤显示紫外线驱动的突变; 状和粘膜黑色素瘤显示结构变化和未知的突变特征.
- 非编码和编码突变影响的基因数量相似.
- 关键的突变基因包括BRAF,CDKN2A,NRAS,TP53,NF1和SF3B1; TERT促进体突变最常见.
- 大多数黑色素瘤在MAPK和PI3K等信号通路中存在可操作的突变.
结论:
- 黑色素瘤是由各种致癌过程引起的,
- 非编码基因组对黑色素瘤的发展有重要影响.
- 基因组分析揭示了亚型特定的突变格局和潜在的治疗点.
相关概念视频
Cancer-Critical Genes II: Tumor Suppressor Genes
9.9K
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...
9.9K
Skin Cancer
6.4K
Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
6.4K
Cancers Originate from Somatic Mutations in a Single Cell
15.2K
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...
15.2K


