rs2823093: what the research says
This variant at the 21q21 locus is associated with an increased risk of estrogen receptor-positive breast cancer.
What each genotype means
Baseline risk profile
This genotype represents the common, non-risk version of this genetic variant. Research indicates that individuals with this profile do not carry the specific genetic association linked to increased susceptibility for estrogen receptor-positive breast cancer at this locus.
This is the most common genotype in most global populations.
Slightly increased risk
Carrying one copy of the risk allele is associated with a statistically higher likelihood of developing estrogen receptor-positive breast cancer compared to those without the variant. This association is based on population-level data and does not determine individual health outcomes, as breast cancer risk is influenced by many genetic and environmental factors.
This genotype is found in a significant portion of the population, consistent with the reported minor allele frequency of 0.11 to 0.41.
Increased risk profile
Carrying two copies of the risk allele is associated with a higher statistical risk for estrogen receptor-positive breast cancer compared to individuals with the AA or AG genotypes. This finding is based on large-scale genome-wide association studies, though it is important to remember that genetic risk is only one component of overall breast cancer susceptibility.
This genotype is less common than the heterozygous state but is present across various ancestral groups.
Minor allele frequency of 0.11 to 0.41
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