What pharmacogenomic variants are known in BRCA1?

Key variants in BRCA1: rs121918506 (185delAG (frameshift)). These variants are associated with Hereditary breast cancer, Ovarian cancer, Prostate cancer.

Gene Database

BRCA1 — BRCA1 DNA Repair Associated

Q: What is the BRCA1 gene?

BRCA1 (BRCA1 DNA Repair Associated) is located on chromosome 17q21.31. Tumor suppressor essential for DNA double-strand break repair via homologous recombination. Loss of function leads to genomic instability and dramatically increased cancer risk.

Q: Can PepFold design peptides targeting BRCA1?

Yes. PepFold accepts rsIDs associated with BRCA1, maps them to the protein structure, and generates peptide candidates. BRCT domain-mimetic peptides restoring repair function, synthetic lethality-targeting peptide-drug conjugates for BRCA1-deficient tumors, and cell-penetrating peptides delivering repair machinery.

Chromosome 17q21.31

Tumor suppressor essential for DNA double-strand break repair via homologous recombination. Loss of function leads to genomic instability and dramatically increased cancer risk.

Pharmacogenomic Variants

rs121918506Pathogenic

185delAG (frameshift) — Hereditary breast and ovarian cancer

Peptide Therapeutic Approaches

BRCT domain-mimetic peptides restoring repair function, synthetic lethality-targeting peptide-drug conjugates for BRCA1-deficient tumors, and cell-penetrating peptides delivering repair machinery.

Related Therapeutics

Olaparib (PARP inhibitor)TalazoparibRucaparib

Associated Conditions

Hereditary Cancer Syndromes (BRCA1/BRCA2)

BRCA1 and BRCA2 mutations cause hereditary breast and ovarian cancer syndrome (HBOC). Lifetime breast cancer risk reaches 65-85% for BRCA1 carriers. PARP inhibitors exploit synthetic lethality in BRCA-deficient tumors.

Analyze BRCA1 variants with PepFold

Submit rs121918506 and get ranked peptide candidates in under 2 minutes.

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