BRCA2 rs80359550: What Your Genotype Means
The rs80359550 variant is a specific genetic alteration located within the BRCA2 gene. It is recognized as a clinically significant founder mutation associated with an increased risk for hereditary breast and ovarian cancer syndrome.
What each genotype means
Typical risk profile
You have two intact functional copies of the BRCA2 gene at this position and do not carry the pathogenic c.5946delT alteration. Your statistical risk for breast, ovarian, and related hereditary cancers is not elevated by this specific variant, although background population and familial risks may still apply.
Carried by more than 99.9% of individuals globally, and approximately 98.8% of individuals of Ashkenazi Jewish ancestry.
Markedly increased cancer risk
You carry one copy of the pathogenic frameshift variant historically termed 6174delT (c.5946delT). This alteration leads to a truncated BRCA2 protein and is associated with substantial lifetime risks for female breast cancer (approximately 43% to 55%), ovarian cancer (approximately 20% to 37%), as well as elevated risks of male breast and prostate cancers. Clinical guidelines recommend specialized oncologic surveillance and risk-reduction strategies for carriers of this variant.
Found in approximately 1 in 80 (1.2%) individuals of Ashkenazi Jewish ancestry, but is extremely rare in most other global populations (gnomAD MAF < 0.00005).
Understanding the Variant
The variant rs80359550 is a specific change in the DNA sequence of the BRCA2 gene. In genetic literature, this variant is also historically referred to as 6174delT. It is classified as a truncating variant, meaning it alters the genetic code in a way that typically prevents the cell from producing a functional BRCA2 protein. Because the protein is either absent or severely disrupted, the cell loses a critical tool for maintaining genomic stability. This specific variant is well-documented in clinical databases as a pathogenic allele, meaning it is strongly linked to the development of certain hereditary cancer syndromes. It is important to note that genetic variants are simply markers in our DNA; their presence does not guarantee the development of disease, but rather indicates a higher statistical risk that warrants clinical attention.
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 repairing damaged DNA, specifically through a process called homologous recombination. When DNA strands break—a common occurrence during normal cell division—the BRCA2 protein helps coordinate the repair process to ensure the genetic information remains intact. When a person carries a pathogenic variant like rs80359550, the body may not produce enough functional BRCA2 protein to keep up with these repairs. Over time, this accumulation of unrepaired DNA damage can lead to the uncontrolled cell growth characteristic of cancer. Because BRCA2 is essential for maintaining the integrity of the genome, mutations in this gene are specifically associated with an increased susceptibility to breast, ovarian, and other related cancers.
Research and Clinical Significance
Research has established rs80359550 as a founder mutation, particularly within the Ashkenazi Jewish population. A founder mutation is a genetic variant that appears at a higher frequency in a specific group because the population originated from a small number of ancestors. Numerous studies have identified this variant in individuals diagnosed with BRCA2-associated cancers, confirming its clinical relevance. Because it is a loss-of-function mutation, it is categorized as pathogenic in clinical settings. The evidence supporting its association with cancer risk is robust, leading to its inclusion in standard genetic screening panels for hereditary cancer syndromes. While the association is well-supported by clinical data, the actual risk for any individual can be influenced by other genetic and environmental factors. Clinical guidelines emphasize that individuals who test positive for this variant should consult with a genetic counselor or oncologist to discuss personalized screening and management strategies.
Population Frequency
The rs80359550 variant is considered very rare in the general global population. However, its frequency is notably higher within the Ashkenazi Jewish population, where it is recognized as a founder mutation. Data from large-scale population studies, such as gnomAD, show that the variant is observed at a low frequency in control cohorts, which is consistent with its status as a rare, pathogenic allele rather than a common polymorphism found throughout the general public.
What This Information Means for You
If you have received information about this variant, it is essential to understand that this is not a medical diagnosis. Genetic testing results should always be interpreted by a qualified healthcare professional, such as a genetic counselor or a physician specializing in oncology. They can help you understand what this result means in the context of your personal and family medical history. You cannot use this information to diagnose yourself or to make independent medical decisions. If you are concerned about your risk for hereditary cancer, speak with your doctor about whether genetic testing is appropriate for you. They can provide guidance on surveillance, risk-reduction strategies, and the potential implications for your family members. Always rely on clinical experts to translate genetic findings into actionable health plans.
How common is this variant?
The variant is very rare in the general population but is a well-established founder mutation within the Ashkenazi Jewish community.
Frequently asked questions
Is rs80359550 the same as 6174delT?
Yes, 6174delT is a historical name used in scientific literature to describe the rs80359550 variant. Both terms refer to the same specific genetic change in the BRCA2 gene.
Does having this variant mean I will get cancer?
No, having this variant does not mean you will definitely develop cancer. It indicates an increased statistical risk, which is why clinical consultation is recommended to discuss appropriate screening and management.
Should I get tested for this variant?
Genetic testing is a personal decision that should be made in consultation with a healthcare provider or genetic counselor. They can assess your family history and determine if testing for BRCA2 variants is clinically indicated for you.
Where can I find more information about BRCA2?
MedlinePlus Genetics provides comprehensive, reliable information about the BRCA2 gene and its role in health. You can also consult resources from the National Cancer Institute for information on hereditary cancer syndromes.
Sources & further reading
Educational information only, last refreshed 10/15/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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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.
Protein-truncating variant (K3326X) in BRCA2 associated with a modest increase in risk for breast and other cancers.