Related Experiment Video
Updated: Dec 20, 2025
09:52
Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
Published on: April 19, 2013
24.7K
[Polygenic scores and cancer risk]
1UMR 7268 ADÉS, Aix-Marseille, Université /EFS/CNRS ; CoReBio PACA, case 901, Parc scientifique de Luminy, 13288 Marseille Cedex 09, France.
Medecine Sciences : M/S
|May 27, 2020
Summary
Calculating a polygenic risk score (PRS) using a small number of single nucleotide polymorphisms (SNPs) from genome-wide association studies (GWAS) enables accurate cancer risk assessment for moderately heritable cancers, demonstrating clear clinical utility.
Area of Science:
- Genetics
- Oncology
- Bioinformatics
Background:
- Cancer heritability plays a role in risk assessment.
- Genome-Wide Association Studies (GWAS) identify genetic variants associated with diseases.
- Polygenic Risk Scores (PRS) aggregate the effects of many genetic variants.
Purpose of the Study:
- To evaluate the accuracy of PRS for cancer risk assessment.
- To determine the clinical utility of PRS in moderately heritable cancers.
- To assess the impact of a small number of SNPs on PRS accuracy.
Main Methods:
- Utilized data from Genome-Wide Association Studies (GWAS).
- Selected a limited set of single nucleotide polymorphisms (SNPs).
- Calculated Polygenic Risk Scores (PRS) based on selected SNPs.
Main Results:
- PRS demonstrated accurate risk assessment for cancers with moderate heritability.
- A small number of SNPs were sufficient for accurate PRS calculation.
- The PRS showed definite clinical utility.
Conclusions:
- PRS derived from a limited SNP set is effective for cancer risk assessment.
- This approach is clinically valuable for managing moderately heritable cancers.
- Genetic risk assessment for cancer can be streamlined using PRS.
More Related Videos
Related Concept Videos
02:59Cancer Prevention
7.5K
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...
7.5K
01:18Polygenic Traits
68.6K
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...
68.6K
01:33Cancer-Critical Genes I: Proto-oncogenes
11.0K
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...
11.0K
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
9.3K
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...
9.3K
01:21Cancer Survival Analysis
578
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...
578
02:21Cancers Originate from Somatic Mutations in a Single Cell
14.4K
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...
14.4K