BRCA1 c.5266dupC (5382insC) — Aschkenazi-Mutation des jüdischen Gründers
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-BRCA1-ASHKENAZI-FOUNDER-5266DUPC |
|---|---|
| Art | Biomarker |
| Aliase | BRCA1 5266dupC-GründermutationBRCA1 5382 insCBRCA1 5385incBRCA1 c.5266dupC (5382insC) — засновницька мутація ашкеназіc.5266dupC.5266dupC |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Erkrankungen | None declared |
| Quellen | SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 |
Biomarker-Fakten
| Biomarker-Typ | gene_mutation |
|---|---|
| Angaben zur Mutation | {"exon": "20", "functional_impact": "loss_of_function", "gene": "BRCA1", "gene_hugo_id": "HGNC:1100", "hgvs_coding": "c.5266dupC", "hgvs_protein": "p.Gln1756ProfsTer74", "variant_type": "frameshift insertion (duplication)"} |
| Verwandte Biomarker | BIO-BRCA1-BRCA2-GERMLINE |
Anmerkungen
Second of three Ashkenazi Jewish founder mutations. Single-nucleotide duplication (cytosine) in exon 20 causing frameshift and premature termination — truncates BRCA1 within the BRCT2 domain, abolishing C-terminal protein-binding function critical for homologous-recombination repair coordination. Also called 5382insC in legacy nomenclature (offset by stop-codon counting convention shift). Recurrent founder effect in AJ populations (~0.8-1.0% carrier frequency in AJ vs <0.1% non-AJ); also reported as a recurrent variant in Polish, Russian, Belarusian populations (likely separate founder events or AJ admixture). Lifetime cancer risks consistent with BRCA1 average. NCCN 2025 endorses population-wide AJ founder-panel testing (3-mutation panel) regardless of family history. Same surveillance and risk-reduction protocols as other BRCA1 pathogenic variants. STUB pending two-Co-Lead signoff.
Verwendet von
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