FGFR2 rs2981575: What Your Genotype Means
The rs2981575 variant is a common genetic change located within the FGFR2 gene. Research has identified this variant as a modifier that can influence the level of breast cancer risk in individuals who already carry BRCA2 mutations.
What each genotype means
Baseline breast cancer risk
This genotype represents the baseline state for this specific variant in the FGFR2 gene. Research indicates that this variant acts as a modifier of breast cancer risk, particularly in individuals who also carry BRCA2 mutations.
This genotype is common in many global populations, though exact frequencies vary by ancestry.
Modified breast cancer risk
Carrying one copy of the G allele at this position has been associated with altered susceptibility to breast cancer in scientific studies. This variant is recognized as a modifier of risk for individuals who carry BRCA2 mutations, though it does not act as a primary cause of the disease.
This heterozygous genotype is frequently observed across diverse populations.
Increased breast cancer risk
Individuals with two copies of the G allele may have a different statistical risk profile for breast cancer compared to those with the A allele. This variant is known to influence risk specifically in the context of BRCA2 mutation carriers, and its effect is considered a modifier rather than a standalone diagnostic factor.
This genotype is found at varying frequencies globally and is considered a common variant.
Understanding the Variant
The rs2981575 variant is a single nucleotide polymorphism (SNP) situated in an intronic region of the FGFR2 gene. Introns are non-coding segments of DNA that reside between the exons, which are the parts of the gene that provide instructions for making proteins. While intronic variants do not change the amino acid sequence of the resulting protein directly, they can play a significant role in regulating how genes are expressed or how much protein is produced. In the case of rs2981575, its location within the FGFR2 gene has made it a subject of intense study in cancer genomics. Scientists use these markers to understand the complex architecture of inherited disease risk, as they often serve as signposts for functional changes that may influence cellular behavior and susceptibility to various health conditions.
The Role of the FGFR2 Gene
The FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2. This protein is a member of a family of receptors that play critical roles in cell signaling, growth, division, and maturation. By binding to specific growth factors, the FGFR2 protein helps transmit signals from the outside of the cell to the inside, influencing how cells respond to their environment. Because of its central role in regulating cell proliferation, the FGFR2 gene is highly relevant in oncology. When the signaling pathways controlled by FGFR2 are disrupted or overactive, it can contribute to the uncontrolled cell growth characteristic of cancer. Understanding how variants like rs2981575 affect the regulation of this gene is a key area of research, as it helps clarify how subtle genetic differences can contribute to the development or progression of tumors.
Research and Evidence Strength
The association between rs2981575 and breast cancer risk is supported by moderate evidence, particularly in the context of BRCA2 mutation carriers. Genome-wide association studies (GWAS) have consistently identified this locus as a modifier of breast cancer risk. Specifically, research has shown that for individuals who carry a pathogenic BRCA2 mutation, the presence of the rs2981575 variant can modify the penetrance—or the likelihood that the cancer will develop—of that mutation. While the variant itself is not a primary cause of cancer, it acts as a secondary factor that can shift the risk profile. It is important to note that these findings are based on statistical associations observed in large populations. These studies provide valuable insights into the polygenic nature of cancer, where multiple genetic factors work in concert to influence an individual's overall risk profile.
Interpreting Your Information
It is essential to understand that genetic variants like rs2981575 are common and do not function as diagnostic tools. Having a specific genotype at this location does not mean an individual will or will not develop cancer. The information provided by such variants is intended for educational purposes and to help researchers understand the biological mechanisms of disease. If you have concerns about your personal or family history of cancer, or if you are interested in genetic testing, you should consult with a qualified healthcare professional or a genetic counselor. They can provide context based on your full medical history and help you understand the clinical relevance of any genetic information. Never use genetic data to make medical decisions or change your health habits without professional guidance, as clinical risk assessment requires a comprehensive evaluation of many factors beyond a single SNP.
How common is this variant?
The rs2981575 variant is a common genetic marker found across diverse human populations, with its specific allele frequencies varying by ancestry.
Frequently asked questions
Does having the rs2981575 variant mean I will get breast cancer?
No. This variant is a common genetic marker associated with a slight modification in risk, not a direct cause of cancer. Many people carry this variant without ever developing the disease.
How does rs2981575 interact with BRCA2?
Research indicates that this variant can act as a modifier for individuals who already carry a BRCA2 mutation. It may influence the penetrance of the BRCA2 mutation, potentially altering the level of breast cancer risk.
Should I get tested for this SNP?
Genetic testing for common variants like rs2981575 is generally not recommended for clinical decision-making. You should discuss any concerns about cancer risk with a doctor or genetic counselor who can evaluate your entire health profile.
Where can I find more information on FGFR2?
You can find reliable, medically reviewed information about the FGFR2 gene and its functions on the MedlinePlus Genetics website. It provides comprehensive overviews of genes and their roles in human health.
Sources & further reading
Educational information only, last refreshed 10/9/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs2981575?
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 FGFR2
This SNP is associated with an increased susceptibility to breast cancer.
This variant is associated with an increased risk of breast cancer in various populations.
One of the strongest common genetic risk factors for breast cancer.
This variant is strongly correlated with prostate cancer aggressiveness and serum PSA levels.
Correlated genetic marker in the FGFR2 locus associated with altered prostate-specific antigen (PSA) levels and prostate cancer risk.
This intronic variant in the FGFR2 gene is part of a haplotype associated with an increased risk of developing breast cancer.