BRCA2
BRCA2 DNA repair associated
Gene Number: 675
Location: 13q13.1
Key Functions: DNA repair, homologous recombination, tumor suppression
BRCA2 encodes breast cancer type 2 susceptibility protein, a tumor suppressor involved in the repair of double-strand DNA breaks via homologous recombination. It plays a crucial role in preserving genomic stability.
Inherited mutations in BRCA2 significantly increase the lifetime risk of breast, ovarian, prostate, and pancreatic cancer. Genetic screening is recommended for individuals with a family history of these cancers.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs11571833 | No matching variant or no valid DNA data | T | No interpretation available |
rs144848 | No matching variant or no valid DNA data | C,G | No interpretation available |
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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