BRCA2 rs11548268: Understanding Hereditary Cancer Risk Variants
The rs11548268 variant is a specific genetic alteration located within the BRCA2 gene. It is recognized in clinical databases as a pathogenic mutation associated with hereditary breast and ovarian cancer syndrome.
What each genotype means
Typical BRCA2 profile
This genotype represents the common, non-pathogenic sequence at this location in the BRCA2 gene. It is not associated with the increased risk of hereditary breast and ovarian cancer syndrome linked to the pathogenic variant. You should follow standard population-based cancer screening guidelines as recommended by your healthcare provider.
This is the most common genotype found in the general population across all ancestries.
Increased cancer risk carrier
This genotype indicates you carry one copy of the pathogenic variant associated with hereditary breast and ovarian cancer syndrome. Individuals with this variant have a significantly higher statistical risk of developing certain cancers, such as breast, ovarian, and pancreatic cancer, compared to the general population. Please consult with a genetic counselor or oncologist to discuss personalized screening and risk management strategies.
This genotype is rare, occurring in a very small fraction of the population.
High cancer risk profile
This genotype indicates you carry two copies of the pathogenic variant associated with hereditary breast and ovarian cancer syndrome. This status is linked to a substantially increased risk for hereditary cancer syndromes and, in some contexts, may be associated with recessive conditions like Fanconi Anemia. It is essential to discuss these findings with a medical geneticist or specialist to coordinate appropriate clinical surveillance and care.
This genotype is extremely rare in the general population.
What is the rs11548268 Variant?
The rs11548268 variant is a single nucleotide polymorphism (SNP) situated within the BRCA2 gene, which is located on chromosome 13. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. When researchers identify a variant like rs11548268, they analyze its position and potential impact on the protein produced by the gene. This specific variant is categorized as pathogenic, meaning it is associated with an increased risk of developing certain health conditions. Because it is located in a critical region of the BRCA2 gene, it is subject to ongoing study by clinical geneticists to understand how it disrupts normal cellular processes. Genetic variants are identified through high-throughput sequencing technologies, which allow scientists to map an individual's unique genetic code against a reference genome to pinpoint these specific differences.
The Role of the BRCA2 Gene
The BRCA2 gene provides instructions for making a protein that acts as a tumor suppressor. This protein plays a vital role in the repair of damaged DNA, specifically through a process called homologous recombination. By fixing double-strand breaks in DNA, the BRCA2 protein helps maintain the stability of a cell's genetic information. When the BRCA2 gene functions correctly, it prevents cells from growing and dividing too rapidly or in an uncontrolled way. However, when a pathogenic variant is present, the resulting protein may be truncated, unstable, or entirely absent. This loss of function impairs the cell's ability to repair its DNA effectively. Over time, the accumulation of unrepaired genetic damage can lead to the development of tumors. Because of its essential role in genome maintenance, BRCA2 is one of the most well-studied genes in the context of hereditary cancer predisposition.
Research and Clinical Associations
Scientific research has established a strong link between pathogenic BRCA2 variants and an increased lifetime risk for breast and ovarian cancers. Evidence for such variants is often gathered through large-scale clinical registries and studies of families with a history of hereditary breast and ovarian cancer syndrome. The evidence strength for a variant is determined by its presence in affected individuals, functional studies showing impaired protein activity, and computational predictions. For rs11548268, the classification as pathogenic is supported by clinical data indicating its role in disrupting the normal function of the BRCA2 protein. It is important to note that while the presence of a pathogenic variant increases risk, it does not guarantee that an individual will develop cancer. Many factors, including other genetic modifiers, environmental influences, and lifestyle, contribute to the overall risk profile of an individual.
Population Frequency and Distribution
The rs11548268 variant is considered rare in the general population. Genetic variants associated with hereditary cancer syndromes are typically not found at high frequencies across the global population, as they are often subject to selective pressures. Frequency data is derived from large-scale genomic databases like gnomAD, which aggregate sequencing data from diverse ancestral backgrounds. Because this variant is rare, it is not commonly encountered in the general public. Its distribution can also vary significantly between different ethnic groups due to founder effects, where a specific variant becomes more common in a population that originated from a small group of ancestors. Understanding the frequency of a variant helps researchers determine its clinical significance and the likelihood of encountering it in a clinical setting.
Navigating Genetic Information
If you have received information about a BRCA2 variant, it is essential to understand what this means for your health. Genetic information is complex, and the presence of a variant should be interpreted by a qualified healthcare professional, such as a genetic counselor or a medical geneticist. They can provide context based on your personal and family medical history, which is crucial for accurate risk assessment. You cannot diagnose yourself or determine your cancer risk based solely on a single variant report. If you are concerned about your genetic risk, consult with your doctor to discuss whether genetic testing or specialized screening is appropriate for you. Never make medical decisions, such as changes to your healthcare or preventative measures, without professional clinical guidance. Genetic testing provides data, but clinical expertise provides the necessary interpretation to guide your health decisions safely.
How common is this variant?
The rs11548268 variant is classified as rare, with its specific genotypes appearing at very low frequencies across most global ancestral populations.
Frequently asked questions
What does it mean if I have a BRCA2 variant?
A BRCA2 variant is a change in the DNA sequence of the BRCA2 gene. Depending on the specific variant, it may affect the gene's ability to repair DNA, which can influence the risk of developing certain cancers.
Is a BRCA2 mutation a cancer diagnosis?
No, having a BRCA2 mutation is not a cancer diagnosis. It indicates an increased susceptibility to certain cancers, but it does not mean that you currently have cancer or that you will definitely develop it in the future.
How can I find out if I have this variant?
This variant is typically identified through clinical genetic testing ordered by a healthcare provider. If you are concerned about your risk, you should speak with a genetic counselor or your primary care physician.
What should I do if I have a pathogenic BRCA2 variant?
If you have a pathogenic variant, you should discuss your results with a genetic counselor or a specialist. They can help you understand your specific risk and discuss appropriate screening or management options.
Sources & further reading
Educational information only, last refreshed 10/7/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Get my report — $29Related variants in BRCA2
This variant is a clinically significant allele in the BRCA2 gene associated with hereditary breast and ovarian cancer syndrome.
This variant (p.Lys3326Ter) is classified as a benign polymorphism and is not considered a primary driver of hereditary breast and ovarian cancer susceptibility.
A pathogenic variant in BRCA2 associated with hereditary breast and ovarian cancer syndrome.
A pathogenic variant in the BRCA2 gene associated with hereditary breast and ovarian cancer.
A rare pathogenic variant in the BRCA2 gene associated with hereditary breast and ovarian cancer syndrome.
Also known as Lys3326Ter (K3326X), this truncating variant in the C-terminus of BRCA2 confers moderate increased susceptibility to breast, ovarian, and lung cancers.