BRCA2 c.5946delT (6174delT) — Aschkenazi Jüdische Gründermutation
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-BRCA2-ASHKENAZI-FOUNDER-6174DELT |
|---|---|
| Art | Biomarker |
| Aliase | BRCA2 6174delTBRCA2 6174delT-GründermutationBRCA2 c.5946delTBRCA2 c.5946delT (6174delT) — засновницька мутація ашкеназіc.5946del |
| 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": "11", "functional_impact": "loss_of_function", "gene": "BRCA2", "gene_hugo_id": "HGNC:1101", "hgvs_coding": "c.5946delT", "hgvs_protein": "p.Ser1982ArgfsTer22", "variant_type": "frameshift deletion"} |
| Verwandte Biomarker | BIO-BRCA1-BRCA2-GERMLINE |
Anmerkungen
Third of three Ashkenazi Jewish founder mutations (combined carrier frequency ~2.5% in AJ; ~1.5% for this BRCA2 variant alone in some cohorts). Single-T deletion in exon 11 causing frameshift and premature termination in the DNA-binding domain region — abolishes RAD51-mediated homologous-recombination repair. Modern HGVS notation c.5946delT; legacy notation 6174delT (older mRNA-numbering convention). Lifetime cancer risks consistent with BRCA2 average: breast ~50-60%, ovarian ~15-20%, male breast ~6-8%, pancreas ~5-7%, prostate ~20-25%. Higher pancreas risk than BRCA1 — CAPS-Consortium pancreatic surveillance (annual MRI/MRCP or EUS from age 50 or 10 years before youngest PDAC in family) applies to BRCA2 carriers with PDAC family history. Same breast/ovarian surveillance and risk-reduction protocols as other BRCA2 pathogenic variants (annual MRI from 25-30, RRSO 40-45). NCCN 2025 endorses population-wide AJ founder-panel testing. STUB pending two-Co-Lead signoff.
Verwendet von
Keine Rückverweise im YAML-Korpus gefunden.