PSCA rs2294008: What Your Genotype Means
The rs2294008 variant is a common genetic change located within the PSCA gene. Research has associated this variant with an altered risk for certain types of gastric and bladder cancers across various populations.
What each genotype means
Lower gastric cancer risk
This genotype is associated with a lower statistical risk of developing gastric and bladder cancers compared to those carrying the T allele. Research suggests this version of the gene maintains normal transcriptional activity, which may provide a protective effect against certain precancerous gastric lesions.
This genotype is common in European populations, where the C allele is frequently observed.
Increased cancer risk profile
Carrying one copy of the T allele is associated with an increased statistical risk for gastric and bladder cancers. This variant alters the start codon of the PSCA protein, which can affect gene expression and is linked to higher scores in gastric atrophy and inflammation assessments.
This heterozygous genotype is widely distributed across both European and East Asian populations.
Elevated cancer risk profile
This genotype is associated with the highest statistical risk for gastric and bladder cancers among the three possible combinations. The T allele is linked to reduced promoter activity and structural changes in the PSCA protein, which may contribute to increased susceptibility to gastric precancerous conditions.
This genotype is particularly common in East Asian populations, where the T allele frequency is approximately 0.60.
Understanding the rs2294008 Variant
The rs2294008 variant is a single nucleotide polymorphism (SNP) located in the PSCA gene, which sits on chromosome 8. In this specific location, the DNA sequence can feature either a cytosine (C) or a thymine (T). This change is classified as a missense variant, meaning it alters the genetic code in a way that can change the resulting protein. Specifically, the substitution of the C allele with the T allele in the first exon of the gene is predicted to create a novel translation start site. This alteration can extend the protein by nine amino acids, potentially impacting the normal function or regulation of the PSCA protein. Because this variant is located in a region that influences how the gene is read and expressed, it has been a primary focus for researchers studying genetic susceptibility to various cancers.
The Role of the PSCA Gene
The PSCA gene encodes the Prostate Stem Cell Antigen, a protein that is part of the Ly-6/Thy-1 family of cell surface proteins. Despite its name, PSCA is expressed in various tissues throughout the body, including the prostate, bladder, and stomach. The protein is thought to play a role in cell proliferation and differentiation. In the context of cancer, PSCA is often studied because its expression levels can be significantly altered in tumor tissues compared to healthy ones. Research suggests that the rs2294008 variant may influence the amount of PSCA mRNA produced in cells, which in turn could affect the biological behavior of tissues. By modifying the start codon or influencing promoter activity, the variant may change how much of this protein is available, potentially contributing to the development or progression of certain malignancies.
Research and Cancer Associations
Scientific studies have consistently identified an association between the rs2294008 variant and an increased risk of specific cancers. Genome-wide association studies (GWAS) have linked the T allele to a higher susceptibility to diffuse-type gastric cancer and bladder cancer. In gastric cancer research, the T allele has been associated with a higher prevalence of atrophic gastritis and intestinal metaplasia, which are considered preneoplastic lesions. While the evidence is strong in many studies, it is important to note that the strength of these associations can vary by ethnicity and tumor type. Some meta-analyses have confirmed these links, particularly in Asian and European populations, though results can sometimes be inconsistent across different study designs. This suggests that while rs2294008 is a significant marker, it likely interacts with other genetic and environmental factors to influence overall cancer risk.
Interpreting Your Genetic Information
It is important to understand that having a specific genotype for rs2294008 does not mean an individual will develop cancer. Genetic associations are statistical observations made across large populations, not diagnostic tools for individuals. Many factors, including lifestyle, environment, and other genetic variants, contribute to cancer risk. If you are concerned about your personal health or family history, this information should be discussed with a qualified healthcare provider or a genetic counselor. They can help place these findings into the context of your overall health profile. Never use genetic data to make medical decisions or change your health habits without professional guidance. This information is intended for educational purposes to help you understand the current state of genomic research regarding the PSCA gene.
How common is this variant?
The minor allele frequency for rs2294008 is approximately 0.45 in European populations and 0.60 in East Asian populations.
Frequently asked questions
Does having the rs2294008 T allele mean I will get cancer?
No. The rs2294008 variant is associated with a statistical increase in risk for certain cancers, but it is not a direct cause. Many people with the T allele never develop these conditions, and many people without it do.
Is rs2294008 only associated with prostate cancer?
Despite the name of the gene (Prostate Stem Cell Antigen), the primary research associations for this specific variant are with gastric and bladder cancers. It is not primarily used as a marker for prostate cancer risk.
Can I change my risk if I have the T allele?
Genetic risk factors are fixed, but you can manage your overall health through regular screenings and healthy lifestyle choices. Always consult with a physician to discuss appropriate cancer screening schedules based on your personal and family history.
Why do results for this variant differ between studies?
Genetic associations can vary due to differences in study populations, environmental factors, and the specific types of cancer being analyzed. This is common in genomic research and highlights the complexity of cancer development.
Sources & further reading
Educational information only, last refreshed 10/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs2294008?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29