患有BRCA1和BRCA2致病变体的人群中黑色素瘤的风险:系统性审查和元分析
Nicole M Frontera1, Muhammad Danyal Ahsan2, Isabelle R Chandler2
1Weill Cornell Medical College of Weill Cornell Medicine, New York, NY, USA.
Gynecologic oncology
|September 12, 2025
概括
患有黑色素瘤的人更有可能携带BRCA1/2致病基因变体 (PGV). 然而,BRCA1 PGV携带者患黑色素瘤的风险增加似乎很低,需要进一步研究.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 皮肤病学 皮肤病学
背景情况:
- BRCA1/2致病基因变体 (PGVs) 与乳腺,卵巢,胰腺和前列腺癌的风险增加有关.
- 新出现的证据表明,BRCA1/2 PGVs与黑色素瘤风险之间存在潜在的关联.
研究的目的:
- 系统地审查和元分析黑色素瘤和生殖系BRCA1/2PGVs之间的关联.
- 为BRCA1/2 PGVs患者提供癌症风险管理指南.
主要方法:
- 按照PRISMA指南进行系统审查和元分析.
- 在关键电子数据库中搜索有关黑色素瘤和BRCA1/2 PGV状态的研究.
- 从符合条件的研究中汇集数据来计算流行率和赔率比率.
主要成果:
- 分析了39项涉及7142名黑色素瘤患者的研究.
- 在黑色素瘤患者中发现BRCA1/2 PGVs的总流行率为1.7%.
- 与对照组相比,黑色素瘤患者携带BRCA1 / 2PGV的概率比率为2.8.
结论:
- 患有黑色素瘤的个体携带BRCA1/2PGVs的几率显著更高.
- 有限的数据表明,BRCA1 PGV 携带者的黑色素瘤风险没有显著增加.
- 需要进一步的研究来澄清BRCA1/2PGV载体中黑色素瘤风险的程度.
更多相关视频
08:53Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
Published on: February 17, 2011
15.0K
13:04In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose
Published on: October 14, 2015
13.8K
相关概念视频
Skin Cancer
5.7K
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...
5.7K
Cancer Prevention
7.7K
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...
7.7K
Relative Risk
2.0K
Relative risk (RR) is a statistical measure commonly used in epidemiology to compare the likelihood of a particular event occurring between two groups. This metric is important for evaluating the relationship between exposure to a specific risk factor and the probability of a particular outcome. It plays a crucial role in medical research, public health studies, and risk assessment. Relative risk quantifies how much more (or less) likely an event is to occur in an exposed group compared to an...
2.0K
Mutagenicity and Carcinogenicity
1.9K
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...
1.9K
Mismatch Repair
6.3K
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...
6.3K
Cancer Survival Analysis
650
Cancer survival analysis focuses on quantifying and interpreting the time from a key starting point, such as diagnosis or the initiation of treatment, to a specific endpoint, such as remission or death. This analysis provides critical insights into treatment effectiveness and factors that influence patient outcomes, helping to shape clinical decisions and guide prognostic evaluations. A cornerstone of oncology research, survival analysis tackles the challenges of skewed, non-normally...
650
