BRCA2
BRCA2 DNA repair associated
Gene Number: 675
Location: 13q13.1
Key Functions: DNA repair via homologous recombination, tumor suppression, genomic stability maintenance
The BRCA2 (breast cancer type 2 susceptibility) gene is a central guardian of genomic integrity, closely allied with BRCA1, yet functionally distinct in its molecular execution of DNA double-strand break repair. It encodes a large nuclear protein that serves as a mediator and stabilizer of the homologous recombination (HR) process—a precise repair mechanism vital for the correction of replication-associated DNA damage.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs11571833 | Analyze your DNA to see your genotype | T | Analyze your DNA to see a personalized result. |
rs144848 | Analyze your DNA to see your genotype | C,G | Analyze your DNA to see a personalized result. |
rs11571833
AA – Reference (no early stop); normal BRCA2 function in DNA repair (R).
AT – Heterozygous; mild truncation leading to loss of the C-terminal 93 amino acids. Associated with a 47% increased risk of urinary tract cancers (R).
TT – Homozygous truncation; rare. Functional impact suggests further impaired homologous recombination—risk estimates are less characterized (R).
Functional effect: The T allele introduces a premature stop codon, truncating the final BRCA2 domain critical for interacting with RAD51 and completing DNA repair. This can subtly increase cancer risk, particularly in tissues like the urinary tract (R).
rs144848
AA – Typical BRCA2 function; baseline cancer risk (R).
AC – Slightly elevated risk of breast cancer, depending on haplotype and background (R).
CC – Associated with about a 1.31× increased breast cancer risk (R).
Functional effect: The C allele may alter the structure of BRCA2 in the DNA-binding region, resulting in modest impairment in homologous recombination and contributing to a slightly higher lifetime risk of breast cancer (R).
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