棺材-西里斯综合征和癌症易感性
Nicholas A Borja1, Samantha A Schrier Vergano2,3, Mustafa Tekin1,4
1Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL.
Genetics in medicine open
|December 13, 2024
概括
棺材-西里斯综合征 (CSS) 患者,特别是那些患有ARID1A基因变异的患者,表现出肝细胞瘤的风险增加. 建议在ARID1A-CSS患者中对这种罕见的癌症进行进一步监测.
科学领域:
- 遗传学和基因组学 在
- 发展生物学 发展生物学
- 在瘤学瘤学.
背景情况:
- 棺材-西里斯综合征 (CSS) 是一种罕见的神经发育障碍,由BAF复合基因中的病原变异引起.
- BAF复合体基因的瘤抑制功能引发了关于CSS患者癌症风险的问题.
- 现有的关于CSS癌症发病率的数据有限,需要进一步调查.
研究的目的:
- 为了研究被诊断患有棺材-西里斯综合征的患者的癌症风险.
- 在CSS患者中确定特定恶性瘤的患病率,特别是肝细胞母细胞瘤.
- 评估CSS中特定基因变异 (例如ARID1A) 和癌症发展之间的关联.
主要方法:
- 对癌症测序数据集的分析.
- 对患有恶性瘤的CSS患者进行了全面的文献综述.
- 来自CSS注册表的376名患者队列的检查.
主要成果:
- 文献审查在CSS患者中发现了恶性瘤,ARID1A变异最常与肝细胞瘤 (3例) 相关.
- 在CSS注册队列中没有报告恶性瘤,尽管ARID1A-CSS亚组很小 (26名患者).
- 综合数据估计,ARID1A-CSS中的肝母细胞瘤患病率为3.6%,超过1%的风险值.
结论:
- 患有ARID1A相关的Coffin-Siris综合征的患者可能患有肝细胞瘤的风险较高,需要进行监测.
- 目前的证据不支持CSS中其他基因与癌症的关联.
- 进一步的系统性研究对于阐明棺材-西里斯综合征中基因与癌症的联系至关重要.
相关概念视频
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
7.3K
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...
7.3K
01:12Loss of Tumor Suppressor Gene Functions
4.7K
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.
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...
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...
4.7K
01:03Rous Sarcoma Virus (RSV) and Cancer
5.0K
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
5.0K
02:59Cancer Prevention
6.1K
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...
6.1K
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
01:33Cancer-Critical Genes I: Proto-oncogenes
8.7K
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...
8.7K