What you carry at this position in your DNA and what research says about it.
Hereditary Cancer Risk: 9/10 evidence, 6 publications.
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Sample genotype (not yours): G/G
Typical Cancer Risk
Two normal copies of the BRCA2 gene are present. This genotype is not associated with the hereditary cancer risks linked to this specific variant.
What this genotype means: Typical risk of breast and ovarian cancers; Typical risk of prostate and pancreatic cancers.
Sample genotype (not yours): G/GA
Highly Increased Cancer Risk
One copy of the pathogenic GA insertion is present. This significantly increases the lifetime risk of developing breast, ovarian, prostate, and pancreatic cancers.
What this genotype means: Up to 80 percent lifetime risk of breast cancer; Significantly elevated risk of ovarian, prostate, and pancreatic cancers.
Sample genotype (not yours): GA/GA
Extremely High Cancer Risk and Fanconi Anemia
Two copies of the pathogenic GA insertion are present. This extremely rare genotype causes Fanconi anemia in childhood and carries a very high risk of early-onset cancers.
What this genotype means: Causes Fanconi anemia subtype D1; Extremely high risk of early-onset childhood and adult cancers.
Gene function and biological role
Gene Function: The BRCA2 gene encodes a protein that plays a critical role in maintaining genomic stability by repairing damaged DNA. It specifically operates in the homologous recombination pathway to repair double-strand DNA breaks. When functioning normally, the BRCA2 protein acts as a tumor suppressor, preventing cells from growing and dividing too rapidly or in an uncontrolled way. Inherited mutations in this gene significantly increase the risk of developing several types of cancer, particularly breast and ovarian cancers [1]. Additionally, biallelic mutations in BRCA2 can lead to Fanconi anemia, a rare and severe genetic disorder characterized by bone marrow failure and developmental abnormalities.
Variant Impact: A single nucleotide duplication in exon 11 of the BRCA2 gene, specifically designated as c.2957dupA, defines rs80359365. This insertion shifts the reading frame of the genetic code, creating a premature stop signal shortly after codon 986. As a result, the cell produces a truncated, non-functional BRCA2 protein that cannot effectively repair DNA damage [2]. The lack of functional BRCA2 protein leads to an accumulation of genetic mutations, dramatically increasing the likelihood of cancerous transformation [3]. This specific frameshift alteration is widely recognized as a high-confidence pathogenic variant.
Key Insight: A single copy of this variant increases the lifetime risk of breast cancer up to 80 percent, while carrying two copies is extremely rare and causes a severe childhood DNA-repair disorder called Fanconi anemia.
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 G/G genotype
Cancer & Oncology
Breast Cancer
Breast Cancer. Evidence: 9/10. Source: PMID 24156927. Typical Risk.
Gynecological Cancers
Ovarian Cancer. Evidence: 9/10. Source: PMID 26219728. Typical Risk.
Prostate Cancer
Prostate Cancer. Evidence: 9/10. Source: PMID 36623239. Typical Risk.
Gastrointestinal Cancers
Pancreatic Cancer. Evidence: 9/10. Source: PMID 32918181. Typical Risk.
Showing effects for G/GA genotype
Breast Cancer. Evidence: 9/10. Source: PMID 24156927. Highly Increased Risk.
Ovarian Cancer. Evidence: 9/10. Source: PMID 26219728. Highly Increased Risk.
Prostate Cancer. Evidence: 9/10. Source: PMID 36623239. Highly Increased Risk.
Pancreatic Cancer. Evidence: 9/10. Source: PMID 32918181. Highly Increased Risk.
Showing effects for GA/GA genotype
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Production of fully functional BRCA2 proteins occurs normally when two standard copies of the gene are present [1]. This genetic status does not carry the elevated risks for breast, ovarian, prostate, or pancreatic cancers associated with the pathogenic insertion [2]. While this is the most common and optimal genotype, it does not make a person immune to cancer, as other genetic and environmental factors still play a role.
Typical risk of breast and ovarian cancers; Typical risk of prostate and pancreatic cancers.
Sample genotype: GGA (Heterozygous)
Presence of a single copy of this pathogenic frameshift variant means that about half of the produced BRCA2 proteins are non-functional, compromising the cell's ability to repair DNA double-strand breaks [1]. This heterozygous state is strongly linked to hereditary breast and ovarian cancer syndrome, dramatically raising lifetime risks [2]. For women, the lifetime risk of breast cancer can rise up to 80%, and ovarian cancer risk increases significantly [3]. Men with this genetic profile also face elevated risks of breast and prostate cancers [4]. Additionally, families with this variant show a higher prevalence of pancreaticobiliary malignancies [5].
Up to 80 percent lifetime risk of breast cancer; Significantly elevated risk of ovarian, prostate, and pancreatic cancers.
Sample genotype: GAGA (Homozygous)
Biallelic inheritance of this pathogenic BRCA2 variant results in a complete absence of functional BRCA2 protein, which is essential for DNA repair [1]. This state causes a severe, rare genetic disorder known as Fanconi anemia subtype D1 [2]. Affected individuals typically experience progressive bone marrow failure, physical abnormalities, and an extremely high susceptibility to early-onset childhood cancers, such as leukemia and brain tumors [3]. If adulthood is reached, the risk of developing epithelial cancers, including breast and ovarian cancers, is exceptionally high [4].
Causes Fanconi anemia subtype D1; Extremely high risk of early-onset childhood and adult cancers.
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
Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.
Internet-Based Germline Genetic Testing for Men With Metastatic Prostate Cancer.
Prevalence of pancreaticobiliary cancers in Irish families with pathogenic BRCA1 and BRCA2 variants.
Content updated August 2026.
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