吸烟相关的前列腺癌中的遗传突变
Ahmed Elshafei1, Mohammed Al-Toubat1, Allison H Feibus1
1Department of Urology, University of Florida College of Medicine, Jacksonville, Florida, USA.
The Prostate
|July 17, 2023
概括
烟草吸烟显著增加前列腺癌 (PCa) 患者的基因突变频率,与较高的死亡率相关. 像PTEN这样的特定突变与生存率较低有关,无论吸烟状态如何.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 基因组学就是基因组学.
背景情况:
- 烟草吸烟是众所周知的各种癌症的风险因素,包括前列腺癌 (PCa).
- 遗传倾向可以影响癌症的发展和进展.
- 了解吸烟,基因突变和PCa结果之间的相互作用对于个性化医学至关重要.
研究的目的:
- 将吸烟者和非吸烟者之间的基因突变频率与PCa进行比较.
- 为了确定与吸烟和PCa相关的特定基因突变.
- 研究吸烟,基因突变和PCa患者的整体存活率之间的相关性.
主要方法:
- 美国癌症研究协会项目GENIE注册数据的分析.
- 包括1832名PCa患者,分为吸烟者和非吸烟者.
- 用下一代测序和逻辑回归分析对47个基因的突变频率 (点突变,副本数变异,结构变异) 的比较.
主要成果:
- 与非吸烟者相比,吸烟者表现出明显更高的突变频率 (47.6%) 和瘤突变负担 (41.3%).
- 像PREX2,PTEN,AGO2和KMT2C这样的特定基因在吸烟者中显示出更高的突变率,而非吸烟者中APC和KMT2A突变更频繁.
- 吸烟史,转移性疾病和PTEN体基因突变是PCa患者总死亡率增加的独立预测因素.
结论:
- 前列腺癌患者有吸烟史有更高的体质遗传突变的频率.
- PTEN体基因突变与PCa的整体死亡率增加有关,无论吸烟状态如何.
- 在吸烟者和非吸烟者中特征性地检测到特定的PTEN突变 (G129R和K267Rfs*9),为吸烟相关的PCa机制提供了洞察力.
相关概念视频
Cancer 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
Spontaneous and Induced Mutations
42
Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
42
Cancers Originate from Somatic Mutations in a Single Cell
12.1K
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...
12.1K
Mutagenicity and Carcinogenicity
1.3K
Mutagenicity and carcinogenicity refer to the ability of drugs to cause genetic defects and induce cancer, respectively. The International Agency for Research on Cancer (IARC) classifies agents into four groups based on their carcinogenic potential. Group 1 agents are known human carcinogens; group 2A agents are probably carcinogenic to humans; group 3 agents lack data to support their role in carcinogenesis; and group 4 includes agents for which data support that they are not likely to be...
1.3K
Mutations
83.8K
Overview
83.8K
Cancer-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


