GATA3 rs9383938: Associations and Interpretation
The genetic variant rs9383938 is a common single nucleotide polymorphism (SNP) located in a region associated with the GATA3 and ESR1 genes. Research suggests a statistical association between this variant and susceptibility to breast cancer, as well as variations in hormone receptor status.
What each genotype means
Baseline breast cancer risk
This genotype represents the common baseline state for this genetic location. Research indicates that individuals without the T allele at this position do not carry the specific increased risk association identified in studies of male and female breast cancer susceptibility.
This is the most common genotype observed in most global populations.
Increased breast cancer susceptibility
Carrying one copy of the T allele is statistically associated with a higher susceptibility to breast cancer in both men and women. This variant is considered a proxy for other genetic signals in the region, and while it shows a significant association in large-scale studies, it is only one of many factors that contribute to overall cancer risk.
The T allele is present at a minor allele frequency of approximately 9% to 11% in studied cohorts, making this heterozygous genotype relatively common.
Elevated breast cancer susceptibility
Individuals with two copies of the T allele may have a higher statistical association with breast cancer risk compared to those with the GG genotype. Because this variant is part of a complex genetic landscape, this result should be viewed as a small component of a broader polygenic risk profile rather than a diagnostic indicator.
This homozygous genotype is the least common of the three, occurring at a frequency consistent with the lower prevalence of the T allele in the general population.
Understanding the SNP and its Genomic Location
A single nucleotide polymorphism (SNP) is a variation at a single position in the DNA sequence. The variant rs9383938 is located on chromosome 6 in the 6q25.1 region. While sometimes cataloged with the GATA3 gene, it is often studied in proximity to the ESR1 (estrogen receptor 1) locus. This genomic area is significant in cancer genomics, housing genes crucial for regulating cell growth and hormonal pathways. As an intergenic or non-coding variant, rs9383938 does not alter protein structure directly. Instead, research explores its potential influence on the regulation of nearby genes, possibly affecting biological pathways that contribute to disease risk over time.
The Role of GATA3 and ESR1 Genes
Understanding the genes in this region provides context for rs9383938's study. GATA3 is a transcription factor essential for mammary gland development and maintaining luminal epithelial cells in the breast. ESR1 encodes the estrogen receptor-alpha, a key factor in many breast cancers. These genes operate within a cooperative network, meaning variations in their regulatory regions can impact how breast cells respond to hormones and maintain their identity. Disruptions in this network may contribute to the development of hormone-receptor-positive tumors, making this genomic neighborhood a focus for cancer research.
Research Associations and Evidence Strength
The link between rs9383938 and breast cancer susceptibility is classified as having 'moderate' evidence strength. Large genome-wide association studies (GWAS) have identified this SNP due to its higher frequency in individuals with certain types of breast cancer compared to the general population. It is crucial to understand that a statistical association does not imply causation; it indicates that the presence of a specific allele may slightly alter the statistical likelihood of developing the disease. Breast cancer is a complex condition influenced by numerous genetic and environmental factors, and this single variant represents only one small piece of the overall picture.
Population Frequency
The rs9383938 variant is considered common across human populations. While precise frequencies can differ based on ancestry, common SNPs like this are generally found in varying percentages across most global populations. Its commonality means it is considered part of normal human genetic variation. The majority of individuals carrying these alleles do not develop breast cancer, highlighting that genetic predisposition is only one aspect of disease risk.
Interpreting Your Genetic Information
Encountering rs9383938 in a personal genomic report requires careful interpretation. Genetic associations are statistical observations in populations and are not diagnostic for individuals. This information alone cannot determine personal breast cancer risk or guide medical decisions. Genomic risk reports often highlight associations observed in large groups but cannot account for individual family history, lifestyle, or other clinical factors used by healthcare providers. It is essential to consult with a qualified healthcare professional or genetic counselor to discuss your health history and appropriate screening protocols based on established clinical guidelines.
How common is this variant?
The rs9383938 variant is common in human populations, with frequencies varying by ancestry. As a common variant, it is found across most global populations.
Frequently asked questions
Does having a specific allele for rs9383938 mean I will get breast cancer?
No. Genetic associations from studies like GWAS are statistical and indicate potential predisposition, not certainty. Many individuals with this variant do not develop breast cancer.
Should I change my breast cancer screening based on this SNP?
No. Screening recommendations are based on established clinical risk factors such as age and family history. Always follow the guidance of your healthcare provider for screening schedules.
Is rs9383938 considered a harmful mutation?
The term 'variant' or 'SNP' is generally used for common variations like rs9383938. It represents natural human genetic diversity and is not typically classified as a harmful mutation.
Can lifestyle changes affect my genetic risk associated with rs9383938?
While general healthy lifestyle choices are always recommended, you cannot alter your inherited genotype. Lifestyle modifications should not be based solely on the result of a single SNP.
Sources & further reading
Educational information only, last refreshed 10/4/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs9383938?
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 — $29Related variants in GATA3
Intronic regulatory variant near GATA3 modulating Th2 differentiation and conferring risk of allergic rhinitis and asthma.
Associated with various traits in GWAS, including immune-related phenotypes and blood cell counts.
This variant is associated with immune-related traits and susceptibility to certain allergic conditions.
Variant in the GATA3 locus associated with allergic sensitization and allergic disease risk.
Regulatory variant in GATA3 associated with atopic dermatitis and IgE levels in large-scale GWAS.
An intergenic variant residing in a regulatory chromatin region significantly associated with risk of allergic rhinitis.