BRCA1 rs80358047: Understanding This Pathogenic Variant
The rs80358047 variant is a specific genetic change located within the BRCA1 gene. It is clinically classified as a pathogenic variant and is associated with an increased risk for hereditary breast and ovarian cancer syndrome.
What each genotype means
Typical BRCA1 genotype
This genotype represents the common, non-variant form of the BRCA1 gene at this specific location. It is not associated with the increased cancer risks linked to the pathogenic variant.
This is the most common genotype found in the general population.
Increased breast cancer risk
This genotype includes one copy of the pathogenic variant, also known as c.547+2T>A. Carriers of this variant have an established increased risk for hereditary breast and ovarian cancer syndrome, and should consult with a genetic counselor or healthcare provider regarding appropriate screening and risk management.
This genotype is rare in the general population.
High breast cancer risk
This genotype includes two copies of the pathogenic variant, also known as c.547+2T>A. This is clinically classified as pathogenic and is associated with a significantly increased risk for breast and ovarian cancer; individuals with this result should discuss clinical implications and surveillance options with a medical professional.
This genotype is extremely rare in the general population.
What is rs80358047?
The variant rs80358047 is a single-nucleotide polymorphism (SNP) located on chromosome 17 within the BRCA1 gene. In scientific literature, it is also referred to by its HGVS nomenclature as c.547+2T>A. This specific change involves the substitution of a thymine (T) base for an adenine (A) base. Because it occurs in a critical region of the gene, it is categorized as a pathogenic variant. Genetic variants are essentially variations in the DNA sequence that can occur naturally across human populations. While many variants are benign and have no impact on health, others, like rs80358047, are identified by clinical laboratories as having a significant impact on gene function, which in turn can influence an individual's susceptibility to certain health conditions.
The Role of the BRCA1 Gene
The BRCA1 gene provides instructions for making a protein that acts as a tumor suppressor. This protein is essential for repairing damaged DNA, which helps maintain the stability of a cell's genetic information. When the BRCA1 protein functions correctly, it prevents cells from growing and dividing too rapidly or in an uncontrolled way. However, when a pathogenic variant is present, the production or function of this protein may be impaired. This reduction in DNA repair capacity can lead to the accumulation of genetic damage within cells, potentially increasing the risk of developing certain types of cancer, most notably breast and ovarian cancer. The BRCA1 gene is a well-studied component of hereditary cancer predisposition, and its function is vital for cellular health.
Research and Clinical Significance
Research into rs80358047 has led to its classification as a pathogenic variant by clinical databases. This classification is based on evidence suggesting that the variant disrupts normal BRCA1 function, thereby contributing to hereditary breast and ovarian cancer syndrome. Clinical significance is determined by evaluating data from patient pedigrees, functional studies, and population databases. Because this variant is considered pathogenic, it is recognized by medical professionals as a factor that may increase cancer risk. It is important to note that the presence of a pathogenic variant does not guarantee that an individual will develop cancer; rather, it indicates a higher statistical probability compared to the general population. Clinical guidelines emphasize that such findings should be interpreted within the context of an individual's personal and family medical history.
Understanding Your Results
If you have received information about your status regarding rs80358047, it is essential to understand what this means in a practical sense. This information is a tool for risk assessment, not a medical diagnosis. You cannot change your genetic sequence, but knowing your status can help you and your healthcare provider make informed decisions about screening and preventative health strategies. It is highly recommended that you discuss these results with a certified genetic counselor or a physician who specializes in oncology or medical genetics. They can provide context based on your specific family history and guide you through appropriate clinical follow-up. Avoid making medical decisions based solely on raw genetic data; always rely on the expertise of qualified clinicians to interpret how this information applies to your unique health profile.
How common is this variant?
The rs80358047 variant is considered rare in the general population. Its frequency is low across most ancestral groups, which is typical for pathogenic variants that are monitored for their clinical impact.
Frequently asked questions
What does it mean if a variant is classified as pathogenic?
A pathogenic classification means that scientific and clinical evidence indicates the variant is associated with an increased risk of a specific disease or condition. In the case of BRCA1, it suggests the variant impairs the gene's ability to suppress tumor growth.
Does having this variant mean I will definitely get cancer?
No, having a pathogenic variant does not mean you will definitely develop cancer. It indicates an increased susceptibility or risk, which is one of many factors that contribute to an individual's overall health profile.
Should I be worried if I have this variant?
While it is natural to be concerned, it is best to channel that energy into proactive healthcare. Consult with a genetic counselor to understand your specific risk and to discuss appropriate screening or management options.
Can I change my BRCA1 genotype?
No, your genetic sequence is inherited and cannot be changed. However, knowing your genetic status allows you and your medical team to implement personalized health monitoring and preventative strategies.
Sources & further reading
Educational information only, last refreshed 9/18/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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