What you carry at this position in your DNA and what research says about it.
Hereditary Cancer Risk: 9/10 evidence, 4 publications.
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Sample genotype (not yours): C/C
Typical Breast and Ovarian Cancer Risk
No copies of the pathogenic BRCA2 duplication were detected. This means your genetic risk for hereditary breast and ovarian cancers is typical.
What this genotype means: Typical baseline risk for breast and ovarian cancers; No copies of the pathogenic c.6129dup mutation.
Sample genotype (not yours): C/CA
Significantly Higher Breast and Ovarian Cancer Risk
One copy of the pathogenic BRCA2 duplication was detected. This significantly increases the lifetime risk of developing breast, ovarian, and other cancers.
What this genotype means: Significantly increased lifetime risk of breast and ovarian cancers; Elevated risk of pancreatic and prostate cancers.
Sample genotype (not yours): CA/CA
Extremely High Cancer Risk and Severe Genetic Condition
Two copies of the pathogenic BRCA2 duplication were detected. This extremely rare genotype is associated with profound DNA repair deficiency and severe health risks.
What this genotype means: Extremely high risk of early-onset cancers; Associated with Fanconi anemia type D1.
Gene function and biological role
Gene Function: The BRCA2 gene encodes a critical tumor suppressor protein that is essential for repairing damaged DNA [1]. By helping to mend double-strand DNA breaks, the BRCA2 protein plays a vital role in maintaining genomic stability and preventing abnormal cell growth [1]. When the gene is mutated, cells cannot repair DNA damage effectively, which allows genetic errors to accumulate and can lead to cancer [1]. These mutations are strongly associated with hereditary breast and ovarian cancer syndrome [2]. Additionally, individuals carrying pathogenic variants in this gene face elevated risks for other malignancies, such as pancreatic and prostate cancers [1].
Variant Impact: A single-nucleotide duplication in the BRCA2 gene, often designated as c.6129dup or p.Gly2044fs, defines rs80359561 [1]. The insertion of an extra adenine nucleotide shifts the genetic reading frame, introducing a premature stop codon [1]. This frameshift prevents the cell from producing a full-length, functional BRCA2 protein, leading to a loss of tumor suppressor activity [1]. Clinical evidence has firmly established this variant as pathogenic for hereditary breast and ovarian cancer syndrome [2]. Individuals carrying this mutation have a significantly increased lifetime risk of developing breast, ovarian, and other associated cancers [2].
Key Insight: A single extra nucleotide in this gene completely disrupts the cell's primary DNA repair machinery, drastically increasing cancer susceptibility.
Location: BRCA2. Chromosome 13 · 13q13.1 · 32.3 Mb
Estimated prevalence by population
No frequency data available
This variant is not present in the gnomAD database.
Showing effects for C/C genotype
Cancer & Oncology
Breast Cancer
Breast Cancer. Evidence: 9/10. Source: PMID 11896095. Typical Risk.
Gynecological Cancers
Ovarian Cancer. Evidence: 9/10. Source: PMID 30322717. Typical Risk.
Gastrointestinal Cancers
Pancreatic Cancer. Evidence: 9/10. Source: PMID 11896095. Typical Risk.
Showing effects for C/CA genotype
Breast Cancer. Evidence: 9/10. Source: PMID 11896095. Significantly Higher.
Ovarian Cancer. Evidence: 9/10. Source: PMID 30322717. Significantly Higher.
Pancreatic Cancer. Evidence: 9/10. Source: PMID 11896095. Elevated Risk.
Showing effects for CA/CA genotype
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Possessing two normal copies of the BRCA2 gene means you do not carry this specific high-risk pathogenic variant [1]. Your risk of developing breast, ovarian, or pancreatic cancer remains at the general population baseline [2]. While this is a reassuring result, it is important to remember that most breast and ovarian cancers are not hereditary and can be influenced by other lifestyle, environmental, and genetic factors [1].
Typical baseline risk for breast and ovarian cancers; No copies of the pathogenic c.6129dup mutation.
Sample genotype: CCA (Heterozygous)
Inheriting one copy of this pathogenic frameshift variant means your cells produce less functional BRCA2 protein, which impairs their ability to repair DNA damage [1]. This genetic change is strongly linked to hereditary breast and ovarian cancer syndrome [2]. Women with this variant face a substantially elevated lifetime risk of breast and ovarian cancers, often occurring at an earlier age [2]. Men with this variant also have an increased risk of breast and prostate cancers [1]. Additionally, there is an elevated risk for pancreatic cancer for both men and women carrying this mutation [1].
Significantly increased lifetime risk of breast and ovarian cancers; Elevated risk of pancreatic and prostate cancers.
Sample genotype: CACA (Homozygous)
Inheriting two copies of a pathogenic BRCA2 mutation is an extremely rare event that leads to a complete lack of functional BRCA2 protein [1]. In addition to an exceptionally high risk of early-onset cancers, carrying two copies of this variant causes Fanconi anemia type D1, a severe genetic disorder characterized by bone marrow failure, physical abnormalities, and a high susceptibility to childhood leukemia [2].
Extremely high risk of early-onset cancers; Associated with Fanconi anemia type D1.
Variants with shared genetic architecture
rs11571818 · BRCA2 Gene · Chr 13 · Lung Cancer Risk
rs11571833 · BRCA2 Gene · Chr 13 · Cancer Risk
rs4942486 · BRCA2 Gene · Chr 13 · Cholesterol Levels
Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
Content updated August 2026.
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