BRCA1 rs80358150: Understanding This Pathogenic Variant
The rs80358150 variant is a specific change within the BRCA1 gene that has been clinically reclassified as pathogenic. It is associated with an increased risk for 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 cancer risk linked to the pathogenic variant.
This is the most common genotype found in the general population across all ancestries.
Increased cancer risk
This genotype includes one copy of the pathogenic variant, which has been clinically classified as a risk factor for hereditary breast and ovarian cancer. Individuals with this result should consult with a genetic counselor or healthcare provider to discuss appropriate screening and management strategies.
This genotype is rare and is not typically found in the general population.
Increased cancer risk
This genotype includes two copies of the pathogenic variant, which is associated with a significantly elevated risk for hereditary breast and ovarian cancer. It is essential to discuss these findings with a medical professional or genetic specialist to understand the clinical implications and potential preventative care options.
This genotype is extremely rare in the general population.
What is rs80358150 and Where is it Located?
The variant rs80358150 is a single nucleotide polymorphism (SNP) located on chromosome 17 within the BRCA1 gene. In genetic databases, it is often identified by its specific genomic coordinates and its association with the BRCA1 locus. This variant represents a change in the DNA sequence that has been studied for its potential impact on protein function. Because it is located in a gene critical for DNA repair, researchers and clinicians monitor such variants closely to determine if they disrupt the normal production or function of the BRCA1 protein. The classification of this variant has evolved over time as more clinical data has become available, leading to its current designation as a pathogenic variant in the context of cancer risk assessment.
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 maintaining genomic stability by repairing damaged DNA, specifically through a process known as homologous recombination. When the BRCA1 gene functions correctly, it helps prevent cells from growing and dividing too rapidly or in an uncontrolled way. However, when a pathogenic variant is present, the resulting protein may be non-functional or absent, which can impair the cell's ability to repair DNA damage. This accumulation of genetic errors can increase the likelihood of cells developing into tumors. Understanding the function of BRCA1 is central to why certain variants in this gene are linked to hereditary cancer syndromes, as the loss of this protective mechanism is a key step in cancer development.
Research and Clinical Evidence
The evidence linking rs80358150 to disease risk is based on clinical reclassification studies. In the field of medical genetics, variants are periodically reviewed as more data is gathered from families and individuals with cancer histories. The rs80358150 variant has been identified in databases like ClinVar as pathogenic, meaning there is sufficient evidence to conclude that it contributes to an increased risk of developing certain cancers, such as hereditary breast and ovarian cancer. While the association is considered moderate to strong in clinical settings, it is important to note that the presence of a pathogenic variant does not guarantee that an individual will develop cancer. Instead, it indicates a higher statistical risk compared to the general population, which helps clinicians provide personalized screening and management recommendations for affected individuals.
Population Frequency and Prevalence
The rs80358150 variant is considered rare in the general population. Genetic variants that significantly increase cancer risk are often found at low frequencies because they are subject to natural selection or are specific to certain ancestral groups. In some cases, specific pathogenic variants are more common in particular populations due to a 'founder effect,' where a variant becomes more prevalent in a group that descended from a small number of ancestors. Because this variant is rare, it is not typically included in standard, broad-spectrum genetic screening panels unless specifically targeted. Individuals who are concerned about their personal or family history of cancer should consult with a genetic counselor to determine if testing for specific BRCA1 variants is appropriate for their situation.
Managing Genetic Information
If you have received information about this variant, it is essential to understand what you can and cannot do with it. Genetic information is complex and should always be interpreted by a qualified healthcare professional, such as a genetic counselor or an oncologist. You cannot use this information to diagnose yourself or to predict your future health with absolute certainty. Instead, this information is a tool for risk assessment. If you are a carrier of a pathogenic BRCA1 variant, your doctor may recommend earlier or more frequent cancer screenings, such as breast MRIs or mammograms, starting at a younger age. Always discuss your genetic results with your clinician to develop a personalized health management plan that is appropriate for your specific medical history and family background.
How common is this variant?
The rs80358150 variant is rare in the general population, though its frequency can vary significantly between different ancestral groups.
Frequently asked questions
What does it mean if a BRCA1 variant is pathogenic?
A pathogenic variant in the BRCA1 gene means that the genetic change is known to disrupt the normal function of the BRCA1 protein. This disruption increases the risk of developing certain types of cancer, such as breast and ovarian cancer, compared to the general population.
Does having a pathogenic BRCA1 variant mean I will get cancer?
No, having a pathogenic variant does not mean you will definitely develop cancer. It indicates an increased statistical risk, which allows you and your healthcare provider to take proactive steps, such as increased surveillance or early screening.
How can I find out if I have this variant?
Testing for specific BRCA1 variants is typically performed through clinical genetic testing ordered by a doctor or genetic counselor. You should discuss your family history of cancer with a professional to see if genetic testing is recommended for you.
Can I change my genetic risk for cancer?
You cannot change your genetic sequence, but you can manage your health risks. By working with a medical team, you can implement personalized screening and prevention strategies based on your specific genetic profile and family history.
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.