BRCA1 rs80358027: What Your Genotype Means
The rs80358027 variant is a specific genetic change located within the BRCA1 gene. It is classified as a pathogenic mutation associated with an increased risk of developing hereditary breast and ovarian cancer syndrome.
What each genotype means
Typical BRCA1 profile
This genotype represents the common, non-pathogenic sequence at this specific location in the BRCA1 gene. It is not associated with the increased hereditary cancer risks linked to the pathogenic variant of this gene.
This is the most common genotype found in the general population across all ancestries.
Pathogenic variant carrier
This genotype indicates the presence of a pathogenic BRCA1 mutation, which is associated with an increased risk of hereditary breast and ovarian cancer. Individuals with this result should consult with a genetic counselor or healthcare provider to discuss clinical screening and risk management options.
This genotype is rare and is not commonly found in the general population.
Pathogenic variant carrier
This genotype indicates the presence of two copies of a pathogenic BRCA1 mutation, which is associated with an increased risk of hereditary breast and ovarian cancer. Individuals with this result should consult with a genetic counselor or healthcare provider to discuss clinical screening and risk management options.
This genotype is extremely rare in the general population.
Understanding the Variant
The rs80358027 variant is a single nucleotide polymorphism (SNP) located on chromosome 17. In the context of human genetics, this variant is recognized as a specific alteration within the DNA sequence of the BRCA1 gene. Genetic variants like rs80358027 are identified by their unique reference SNP ID (rsID) assigned by the dbSNP database, which helps researchers and clinicians track specific locations in the genome. Because this variant is located in a critical region of the BRCA1 gene, it is subject to significant clinical scrutiny. It is categorized as a pathogenic variant, meaning that its presence is linked to a higher likelihood of certain health conditions, specifically those related to hereditary cancer susceptibility. Understanding where this variant sits in the genome is the first step in evaluating its potential impact on biological function and individual health outcomes.
The Role of the BRCA1 Gene
The BRCA1 gene, which stands for Breast Cancer Gene 1, plays a vital role in the body as a tumor suppressor. Under normal conditions, the protein produced by this gene helps repair damaged DNA, ensuring that cells grow and divide in a controlled manner. When the BRCA1 gene functions correctly, it helps maintain genomic stability and prevents the accumulation of mutations that could lead to cancer. However, when a pathogenic variant like rs80358027 is present, the gene's ability to perform these essential repair functions may be compromised. This loss of function can lead to an increased risk of developing various cancers, most notably breast and ovarian cancer. Because BRCA1 is inherited in an autosomal dominant manner, an individual only needs to inherit the variant from one parent to have an increased susceptibility to these conditions, though the actual development of cancer is not guaranteed.
Research and Clinical Evidence
Scientific research has established a strong association between pathogenic BRCA1 variants and hereditary breast and ovarian cancer (HBOC) syndrome. The evidence for rs80358027 being pathogenic is supported by clinical databases such as ClinVar, where it is documented as a marker for familial breast and ovarian cancer. While the association is well-documented, it is important to note that the penetrance—the likelihood that an individual with the variant will actually develop cancer—is less than 100%. This means that while the variant increases risk, it does not act as a definitive diagnosis of cancer. Current research emphasizes that clinical management for carriers of such variants often involves increased surveillance, such as more frequent screenings or specialized medical consultations. The strength of the evidence for this specific variant is considered moderate to high in clinical settings, guiding medical professionals in providing personalized risk assessments for patients and their families.
What You Can Do With This Information
If you have received information regarding your status for the rs80358027 variant, it is essential to approach this data with the guidance of a qualified healthcare professional. Genetic information can be complex, and a genetic counselor or physician can help interpret what these results mean for your specific health history and family background. You cannot use this information to diagnose yourself or to make independent medical decisions. Instead, use it as a tool to facilitate a conversation with your doctor about appropriate screening schedules or risk-reduction strategies. It is also important to remember that genetic testing results may have implications for your biological relatives, who may also carry the same variant. Always prioritize professional medical advice over self-interpretation, as clinical management is highly individualized and depends on a variety of factors beyond just a single genetic marker.
How common is this variant?
The rs80358027 variant is considered rare in the general population. Its frequency can vary significantly depending on specific ancestral backgrounds and the presence of founder effects in certain communities.
Frequently asked questions
Does having the rs80358027 variant mean I will get cancer?
No, having this variant does not mean you will definitely develop cancer. It indicates an increased susceptibility, but many factors, including lifestyle and other genetic influences, contribute to cancer risk.
Should I get tested for BRCA1 variants?
Genetic testing is a personal decision that should be made in consultation with a healthcare provider or a genetic counselor. They can help determine if testing is appropriate based on your personal and family medical history.
What is the difference between a pathogenic variant and a mutation?
In clinical genetics, the term 'pathogenic variant' is often used to describe a mutation that is known to increase the risk of a disease. Both terms refer to a change in the DNA sequence compared to the reference genome.
Can I change my risk if I have this variant?
While you cannot change your genetics, you can work with your doctor to manage your risk. This may include increased cancer screening, lifestyle adjustments, or other medical interventions tailored to your specific risk profile.
Sources & further reading
Educational information only, last refreshed 9/17/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This rare variant has been recently annotated in clinical databases as a potential contributor to hereditary breast and ovarian cancer risk.
Variant identified in polygenic risk scores for breast cancer susceptibility.
A rare variant located in the BRCA1 gene, relevant to reproductive genetic counseling and the assessment of hereditary cancer risk.
This variant is a rare genetic alteration in the BRCA1 gene, which is critical for DNA repair and associated with hereditary breast and ovarian cancer syndromes impacting reproductive health.
A very rare variant identified in recent genomic studies, currently being investigated for potential associations with reproductive phenotypes.
This BRCA1 variant (p.Pro871Leu) is a common polymorphism often evaluated in breast cancer risk studies, though it is generally considered to have no clinical significance for hereditary breast and ovarian cancer syndrome.