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相关概念视频

Relative Risk01:12

Relative Risk

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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...
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Polygenic Traits01:18

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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches01:23

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Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
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Hazard Ratio01:12

Hazard Ratio

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The hazard ratio (HR) is a widely used measure in clinical trials to compare the risk of events, such as death or disease recurrence, between two groups over time. It reflects the ratio of hazard rates—the instantaneous risk of the event occurring—between a treatment group and a control group. This measure provides valuable insights into the relative effectiveness of a treatment by assessing how the risk of an event differs between the two groups.
For example, in a clinical trial...
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Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT

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Calcium-Scoring CT ScanA calcium-scoring CT scan, also known as coronary artery calcium (CAC) scan, detects calcium deposits in the coronary arteries. This test assesses the risk of coronary artery disease (CAD), which can lead to cardiovascular events such as angina, heart failure, and sudden cardiac arrest.A calcium-scoring CT scan is generally recommended for individuals at intermediate risk of CAD without symptoms. It includes:Men aged 40-75 and women aged 50-75: Especially those with a...
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相关实验视频

Updated: Jul 27, 2025

An R-Based Landscape Validation of a Competing Risk Model
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An R-Based Landscape Validation of a Competing Risk Model

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多基因风险评分预测多基因风险中的修改风险.

Egija Berga-Švītiņa1,2, Jeļena Maksimenko2,3, Edvīns Miklaševičs2,4

  • 1Bioinformatics Lab, Rīga Stradiņš University, Dzirciema Street 16, LV-1007 Riga, Latvia.

Cancers
|June 10, 2023
PubMed
概括

多基因风险评分 (PRS) 可以预测BRCA1变异载体的乳腺癌 (BC) 风险. 然而,PRS在本研究中没有有效预测卵巢癌 (OC) 风险.

关键词:
携带BRCA1病原性变异的携带者乳腺癌 乳腺癌 乳腺癌卵巢癌是发生在卵巢的癌症.多基因风险评分 (PRS)

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Establishing a Competing Risk Regression Nomogram Model for Survival Data
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科学领域:

  • 遗传学和基因组学 遗传学和基因组学
  • 在瘤学瘤学.
  • 癌症风险评估 癌症风险评估

背景情况:

  • 在BRCA1中生殖系致病变体 (PVs) 会增加患乳腺癌 (BC) 和卵巢癌 (OC) 的风险.
  • 其他遗传因素可能会影响BRCA1PV载体的癌症发展.
  • 多基因风险评分 (PRS) 是估计遗传倾向的新兴工具.

研究的目的:

  • 评估PRS对特定BRCA1PVs (c.4035del或c.5266dup) 的女性BC和OC发育的预测能力.
  • 评估PRS是否可以识别超出BRCA1突变本身风险较高的个体.

主要方法:

  • 应用两种PRS模型 (BayesW和BayesRR-RC) 来自全基因组关联研究 (GWAS).
  • 分析包括406个具有BC或OC的BRCA1PV载体 (c.4035del或c.5266dup),与未受影响个体相比.
  • 使用二项逻辑回归来评估PRS与癌症风险之间的关联.

主要成果:

  • 贝叶斯W PRS 模型显示了对BC风险的显著预测能力 (OR = 1.37,AUC = 0.759,p = 0.02905).
  • 评估的PRS模型中没有一个是该队列中OC风险的有效预测.
  • 这些发现突显了PRS在改进BRCA1光伏载体中的BC风险评估方面的潜在实用性.

结论:

  • 贝叶斯W PRS模型可以帮助评估携带BRCA1c.4035del或c.5266dup变体的BC风险.
  • PRS可能会改善BC的患者分层,可能会增强治疗和预防策略.
  • 需要进行进一步的研究,以开发有效的PRS模型来预测该人群中的OC风险.