rs121918506 — BRCA1 185delAG (frameshift)
Pathogenic · ~1% Ashkenazi Jewish population
rs121918506 (185delAG) is one of three Ashkenazi Jewish founder mutations in BRCA1. It causes a frameshift producing a truncated, non-functional BRCA1 protein, increasing lifetime breast cancer risk to 65-85% and ovarian cancer risk to 39-46%.
Molecular Mechanism
The 2-nucleotide deletion in exon 2 creates a premature stop codon, eliminating the BRCT domains essential for DNA double-strand break repair via homologous recombination. Loss of BRCA1 function leads to genomic instability and cancer predisposition.
Peptide Therapeutic Relevance
BRCA1-mimetic peptides restoring BRCT domain function and peptide-drug conjugates targeting BRCA1-deficient cells (synthetic lethality) are research frontiers. PepFold generates candidates informed by the specific truncation site.
Gene: BRCA1 (BRCA1 DNA Repair Associated)
Tumor suppressor essential for DNA double-strand break repair via homologous recombination. Loss of function leads to genomic instability and dramatically increased cancer risk.
Chromosome 17q21.31
Condition: 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.
Prevalence: 1 in 400 general population; 1 in 40 Ashkenazi Jewish individuals carry a BRCA founder mutation
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