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Published on: March 1, 2024
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Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood
Sigurgeir Olafsson1, Kristjan F Alexandersson1, Johann G K Gizurarson1
1deCODE genetics/AMGEN, Reykjavik, Iceland.
Summary
Genome-wide association studies reveal genetic factors influencing tumor biomarker levels. Adjusting for these genetic effects may enhance cancer detection and treatment monitoring accuracy.
Area of Science:
- Genetics
- Biomarkers
- Cancer Research
Background:
- Commonly used tumor biomarkers like alpha-fetoprotein (AFP) and carcinoembryonic antigen (CEA) have limited sensitivity and specificity for cancer detection.
- Non-malignant factors, including genetic variations, influence serum levels of these biomarkers.
- Current utility of these biomarkers in cancer management is debated due to these limitations.
Purpose of the Study:
- To investigate the genetic underpinnings of serum levels for six key tumor biomarkers.
- To identify genetic variants associated with variations in biomarker concentrations.
- To explore the potential for genetic correction to improve biomarker utility.
Main Methods:
- Conducted large-scale genome-wide association studies (GWAS) on serum levels of AFP, CEA, cancer antigens 15.3, 19.9, 125, and alkaline phosphatase (ALP).
- Utilized data from extensive cohorts, including N=162,774 for ALP.
- Correlated biomarker levels with cancer presence using nationwide cancer registry data.
Main Results:
- Identified 84 significant associations between 79 sequence variants and the six biomarkers.
- These variants explained a substantial portion of phenotypic variance (2.3%–42.3%).
- Characterized variants by location, frequency, coding potential, and association with gene expression.
Conclusions:
- Genetic factors significantly contribute to the variability observed in tumor biomarker concentrations.
- These findings offer insights into the biological basis of biomarker level diversity.
- Genetic adjustment of biomarker values holds promise for improving cancer prediction and clinical decision-making.
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