BRCA1
BRCA1 DNA repair associated
Gene Number: 672
Location: 17q21.31
Key Functions: DNA damage response, tumor suppression, cell cycle control
BRCA1 encodes breast cancer type 1 susceptibility protein, a key regulator of DNA damage repair, checkpoint control, and chromatin remodeling. It acts as a tumor suppressor and is essential for maintaining genomic integrity.
Pathogenic BRCA1 mutations are linked to a high risk of breast and ovarian cancer, particularly early-onset cases. Carriers may also face increased risk for other cancers, such as pancreatic and fallopian tube cancer.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs1799950 | No matching variant or no valid DNA data | C | No interpretation available |
rs799917 | No matching variant or no valid DNA data | A | No interpretation available |
rs1799950
TT –Common genotype; typical BRCA1 function and baseline risk (R).
TC – Carries one C (Arg356) allele; associations with cancer risk are mixed/weak and generally not clinically actionable (R).
CC – Rare genotype; Very slightly higher breast cancer risk (R).
rs799917
GG – Common with baseline risk (R).
AG –Pro/Leu; inconsistent, small effects reported in some cohorts; not clearly pathogenic (R).
AA –Leu/Leu; usually considered benign; no consistent functional impairment shown (R).
Learn more about what you can do to mitigate risks, and other factors involved by becoming a member of GenesUnveiled today!